Mutagenetix > Incidental Mutation

Incidental Mutation 'R9014:Dsp'

685862

Institutional Source

Beutler Lab

Gene Symbol

Dsp

Ensembl Gene

ENSMUSG00000054889

Gene Name

desmoplakin

Synonyms

5730453H04Rik, DP, 2300002E22Rik

MMRRC Submission

068844-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9014 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38151294-38198577 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38192724 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1495 (I1495T)

Ref Sequence

ENSEMBL: ENSMUSP00000115062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124830] [ENSMUST00000127906]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124830
AA Change: I1495T

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115062
Gene: ENSMUSG00000054889
AA Change: I1495T

Domain	Start	End	E-Value	Type
Blast:SPEC	193	282	2e-51	BLAST
SPEC	285	385	6.03e-2	SMART
Blast:SPEC	391	557	1e-96	BLAST
Blast:SPEC	783	894	4e-34	BLAST
SPEC	901	1030	1.39e0	SMART
coiled coil region	1033	1370	N/A	INTRINSIC
coiled coil region	1394	1956	N/A	INTRINSIC
low complexity region	1997	2011	N/A	INTRINSIC
PLEC	2021	2057	3.33e-1	SMART
PLEC	2058	2095	3.76e-9	SMART
PLEC	2096	2133	4.09e-10	SMART
PLEC	2134	2171	2.09e-7	SMART
PLEC	2175	2209	4.83e1	SMART
PLEC	2210	2245	5.67e1	SMART
PLEC	2263	2300	1.22e-8	SMART
PLEC	2301	2338	1.16e-9	SMART
PLEC	2339	2376	1.12e-7	SMART
PLEC	2377	2414	1.56e-6	SMART
PLEC	2418	2452	1.42e0	SMART
PLEC	2468	2505	3.7e-8	SMART
low complexity region	2507	2517	N/A	INTRINSIC
PLEC	2519	2556	3.73e-4	SMART
low complexity region	2577	2593	N/A	INTRINSIC
PLEC	2622	2659	1.46e-6	SMART
PLEC	2660	2697	6.69e-15	SMART
PLEC	2698	2735	1.98e2	SMART
PLEC	2736	2773	2.35e-10	SMART
PLEC	2774	2811	1.39e-3	SMART
low complexity region	2835	2860	N/A	INTRINSIC
low complexity region	2867	2879	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127906

SMART Domains

Protein: ENSMUSP00000117252
Gene: ENSMUSG00000054889

Domain	Start	End	E-Value	Type
Blast:SPEC	193	282	2e-51	BLAST
SPEC	285	385	6.03e-2	SMART
Blast:SPEC	391	557	1e-95	BLAST
Blast:SPEC	783	894	3e-34	BLAST
SPEC	901	1030	1.39e0	SMART
coiled coil region	1033	1357	N/A	INTRINSIC
low complexity region	1398	1412	N/A	INTRINSIC
PLEC	1422	1458	3.33e-1	SMART
PLEC	1459	1496	3.76e-9	SMART
PLEC	1497	1534	4.09e-10	SMART
PLEC	1535	1572	2.09e-7	SMART
PLEC	1576	1610	4.83e1	SMART
PLEC	1611	1646	5.67e1	SMART
PLEC	1664	1701	1.22e-8	SMART
PLEC	1702	1739	1.16e-9	SMART
PLEC	1740	1777	1.12e-7	SMART
PLEC	1778	1815	1.56e-6	SMART
PLEC	1819	1853	1.42e0	SMART
PLEC	1869	1906	3.7e-8	SMART
low complexity region	1908	1918	N/A	INTRINSIC
PLEC	1920	1957	3.73e-4	SMART
low complexity region	1978	1994	N/A	INTRINSIC
PLEC	2023	2060	1.46e-6	SMART
PLEC	2061	2098	6.69e-15	SMART
PLEC	2099	2136	1.98e2	SMART
PLEC	2137	2174	2.35e-10	SMART
PLEC	2175	2212	1.39e-3	SMART
low complexity region	2236	2261	N/A	INTRINSIC
low complexity region	2268	2280	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous targeted null mutants die by embryonic day E6.5 due to instability of desmosomes and tissue integrity; rescue by aggregation with wild-type tetraploid morulae increase embyronic survival with noted major defects in heart muscle, neuroepithelium and epidermis; conditional knockouts that are epidermal-specific have compositionally altered epidermal desmosomes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,269,662 (GRCm38)	L649P	possibly damaging	Het
9530053A07Rik	A	G	7: 28,155,451 (GRCm38)	E1834G	probably damaging	Het
Aco2	A	G	15: 81,914,656 (GRCm38)	N746S	probably benign	Het
Ahnak2	T	C	12: 112,773,736 (GRCm38)	T1301A	possibly damaging	Het
Akap6	T	A	12: 53,139,620 (GRCm38)	N1272K	possibly damaging	Het
Apc	G	T	18: 34,221,021 (GRCm38)		probably benign	Het
Arap1	A	G	7: 101,404,333 (GRCm38)	S1290G	probably damaging	Het
Arhgef25	T	C	10: 127,183,738 (GRCm38)	Y483C	probably damaging	Het
Arpp21	G	T	9: 112,177,728 (GRCm38)	Q138K	probably damaging	Het
Bahcc1	T	C	11: 120,282,222 (GRCm38)	S1557P	probably benign	Het
Bahcc1	C	T	11: 120,272,889 (GRCm38)	A671V	probably benign	Het
Brca2	C	A	5: 150,541,754 (GRCm38)	T1661K	probably benign	Het
Casq1	T	A	1: 172,210,497 (GRCm38)	S356C	probably damaging	Het
Catsperg1	T	C	7: 29,206,641 (GRCm38)	Y171C	probably damaging	Het
Ccdc88c	G	C	12: 100,913,064 (GRCm38)	Q1926E	probably benign	Het
Cdc42bpg	T	A	19: 6,322,259 (GRCm38)	M1425K	possibly damaging	Het
Chac2	C	T	11: 30,986,158 (GRCm38)	R30Q	probably damaging	Het
Clca3a1	T	C	3: 144,736,970 (GRCm38)	D771G	probably benign	Het
Cyp26c1	T	C	19: 37,687,396 (GRCm38)		probably null	Het
Dcaf8	T	C	1: 172,179,963 (GRCm38)	V333A	possibly damaging	Het
Dennd4c	A	C	4: 86,836,429 (GRCm38)	I1559L	probably benign	Het
Dennd4c	G	A	4: 86,821,465 (GRCm38)	S997N	probably benign	Het
Dgcr8	T	G	16: 18,259,650 (GRCm38)	H632P	possibly damaging	Het
Dhx16	C	A	17: 35,882,598 (GRCm38)	R278S	probably benign	Het
Dsel	A	T	1: 111,860,779 (GRCm38)	Y675*	probably null	Het
Fam227a	T	A	15: 79,620,757 (GRCm38)	N495I	possibly damaging	Het
Focad	T	A	4: 88,357,526 (GRCm38)	M1124K	unknown	Het
Foxi3	A	G	6: 70,960,831 (GRCm38)	H349R	probably damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,075,905 (GRCm38)		probably benign	Het
Fsip2	T	G	2: 82,986,731 (GRCm38)	H4269Q	possibly damaging	Het
Fsip2	C	A	2: 82,976,554 (GRCm38)	D1072E	probably benign	Het
Fzd10	C	G	5: 128,602,305 (GRCm38)	P363R	probably damaging	Het
Gm49383	A	C	12: 69,196,651 (GRCm38)	Y151*	probably null	Het
Ighv1-26	T	A	12: 114,788,413 (GRCm38)	S104C	probably damaging	Het
Kat6a	A	G	8: 22,940,071 (GRCm38)	N1814S	unknown	Het
Kif18a	T	A	2: 109,293,069 (GRCm38)	H229Q	probably damaging	Het
Klk1b4	C	T	7: 44,209,674 (GRCm38)	R39C	probably benign	Het
Lgr6	T	C	1: 135,003,510 (GRCm38)	I269V	probably damaging	Het
Lrtm2	A	G	6: 119,317,258 (GRCm38)	V304A	probably damaging	Het
Lsm8	A	G	6: 18,853,633 (GRCm38)	D78G	possibly damaging	Het
Mroh2b	T	C	15: 4,899,188 (GRCm38)	M1T	probably null	Het
Ms4a14	T	C	19: 11,301,507 (GRCm38)	E1229G	possibly damaging	Het
Nbeal1	G	A	1: 60,289,959 (GRCm38)	D2179N	probably damaging	Het
Nfix	G	A	8: 84,721,776 (GRCm38)	T366M	possibly damaging	Het
Olfr1099	T	A	2: 86,958,691 (GRCm38)	I256F	probably benign	Het
Olfr504	A	G	7: 108,565,675 (GRCm38)	L40P	possibly damaging	Het
Olfr533	A	T	7: 140,465,970 (GRCm38)		probably benign	Het
Olfr913	T	C	9: 38,594,827 (GRCm38)	V202A	probably damaging	Het
Pear1	T	C	3: 87,751,172 (GRCm38)	Q964R	probably benign	Het
Pgk2	T	G	17: 40,207,796 (GRCm38)	E247A	probably benign	Het
Ppfia2	C	T	10: 106,927,805 (GRCm38)	P1220S	probably benign	Het
Ppp1r1b	T	C	11: 98,350,623 (GRCm38)	S46P	probably damaging	Het
Ppp2ca	C	A	11: 52,118,683 (GRCm38)	H167Q	probably damaging	Het
Scel	A	T	14: 103,585,139 (GRCm38)	R396S	probably benign	Het
Siae	T	C	9: 37,646,343 (GRCm38)	V482A	possibly damaging	Het
Skint2	A	G	4: 112,625,829 (GRCm38)	M144V	probably benign	Het
Slc23a3	A	G	1: 75,132,630 (GRCm38)	F219L	probably benign	Het
Slc4a4	G	T	5: 89,132,386 (GRCm38)	A348S	probably damaging	Het
Spin1	G	T	13: 51,127,974 (GRCm38)		probably null	Het
Tab2	G	A	10: 7,919,156 (GRCm38)	R521W	probably damaging	Het
Tas2r118	G	A	6: 23,970,050 (GRCm38)	T4M	probably benign	Het
Tet2	T	A	3: 133,467,188 (GRCm38)	D1771V	probably damaging	Het
Tmprss15	T	C	16: 79,075,803 (GRCm38)	T172A	probably benign	Het
Trav7-6	A	G	14: 53,717,147 (GRCm38)	K65E	probably benign	Het
Txnrd3	A	G	6: 89,654,109 (GRCm38)	Y129C	probably damaging	Het
Ulk4	A	G	9: 121,188,228 (GRCm38)	I728T	probably benign	Het
Vmn1r44	G	A	6: 89,894,015 (GRCm38)	V248M	possibly damaging	Het
Wdr64	A	G	1: 175,698,829 (GRCm38)	I15V	probably benign	Het
Zdhhc17	T	C	10: 110,949,683 (GRCm38)	T423A	probably benign	Het
Zfp619	T	C	7: 39,537,822 (GRCm38)	I1092T	probably benign	Het
Zfp729b	A	T	13: 67,592,155 (GRCm38)	Y664N	probably damaging	Het

Other mutations in Dsp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Dsp	APN	13	38,197,846 (GRCm38)	missense	probably damaging	0.99
IGL01337:Dsp	APN	13	38,192,687 (GRCm38)	missense	probably benign	0.44
IGL01371:Dsp	APN	13	38,193,617 (GRCm38)	missense	probably benign	0.13
IGL01473:Dsp	APN	13	38,167,571 (GRCm38)	missense	probably damaging	0.99
IGL01660:Dsp	APN	13	38,176,495 (GRCm38)	missense	possibly damaging	0.90
IGL01723:Dsp	APN	13	38,179,084 (GRCm38)	missense	probably damaging	1.00
IGL01999:Dsp	APN	13	38,181,186 (GRCm38)	missense	probably damaging	0.99
IGL02313:Dsp	APN	13	38,196,523 (GRCm38)	nonsense	probably null
IGL02833:Dsp	APN	13	38,192,921 (GRCm38)	missense	possibly damaging	0.56
IGL03050:Dsp	APN	13	38,188,445 (GRCm38)	splice site	probably benign
IGL03353:Dsp	APN	13	38,186,695 (GRCm38)	missense	probably damaging	1.00
R0052:Dsp	UTSW	13	38,197,364 (GRCm38)	missense	possibly damaging	0.93
R0052:Dsp	UTSW	13	38,197,364 (GRCm38)	missense	possibly damaging	0.93
R0078:Dsp	UTSW	13	38,196,017 (GRCm38)	missense	probably benign	0.22
R0230:Dsp	UTSW	13	38,197,705 (GRCm38)	missense	probably benign	0.03
R0234:Dsp	UTSW	13	38,187,893 (GRCm38)	missense	probably benign	0.13
R0234:Dsp	UTSW	13	38,187,893 (GRCm38)	missense	probably benign	0.13
R0285:Dsp	UTSW	13	38,172,794 (GRCm38)	missense	probably benign
R0326:Dsp	UTSW	13	38,192,870 (GRCm38)	nonsense	probably null
R0332:Dsp	UTSW	13	38,182,228 (GRCm38)	nonsense	probably null
R0471:Dsp	UTSW	13	38,193,350 (GRCm38)	nonsense	probably null
R0567:Dsp	UTSW	13	38,192,438 (GRCm38)	missense	probably benign	0.01
R0611:Dsp	UTSW	13	38,187,741 (GRCm38)	missense	probably damaging	1.00
R0718:Dsp	UTSW	13	38,196,764 (GRCm38)	missense	possibly damaging	0.80
R0926:Dsp	UTSW	13	38,183,218 (GRCm38)	missense	probably damaging	0.97
R1078:Dsp	UTSW	13	38,183,106 (GRCm38)	splice site	probably benign
R1183:Dsp	UTSW	13	38,191,740 (GRCm38)	nonsense	probably null
R1188:Dsp	UTSW	13	38,194,963 (GRCm38)	missense	probably damaging	1.00
R1419:Dsp	UTSW	13	38,186,695 (GRCm38)	missense	probably damaging	1.00
R1445:Dsp	UTSW	13	38,191,931 (GRCm38)	missense	probably damaging	0.98
R1467:Dsp	UTSW	13	38,192,712 (GRCm38)	missense	probably benign	0.00
R1467:Dsp	UTSW	13	38,192,712 (GRCm38)	missense	probably benign	0.00
R1478:Dsp	UTSW	13	38,181,138 (GRCm38)	missense	probably damaging	1.00
R1568:Dsp	UTSW	13	38,175,147 (GRCm38)	missense	probably damaging	1.00
R1572:Dsp	UTSW	13	38,195,738 (GRCm38)	missense	probably damaging	1.00
R1676:Dsp	UTSW	13	38,193,374 (GRCm38)	nonsense	probably null
R1736:Dsp	UTSW	13	38,192,990 (GRCm38)	missense	probably benign	0.01
R1776:Dsp	UTSW	13	38,196,617 (GRCm38)	missense	probably damaging	0.99
R1829:Dsp	UTSW	13	38,193,195 (GRCm38)	missense	probably damaging	1.00
R1878:Dsp	UTSW	13	38,164,855 (GRCm38)	missense	possibly damaging	0.53
R2013:Dsp	UTSW	13	38,191,458 (GRCm38)	missense	probably damaging	1.00
R2161:Dsp	UTSW	13	38,196,451 (GRCm38)	missense	probably damaging	1.00
R2187:Dsp	UTSW	13	38,176,407 (GRCm38)	missense	probably damaging	1.00
R2295:Dsp	UTSW	13	38,197,046 (GRCm38)	missense	probably benign	0.28
R2495:Dsp	UTSW	13	38,193,477 (GRCm38)	missense	possibly damaging	0.91
R2566:Dsp	UTSW	13	38,196,404 (GRCm38)	missense	probably damaging	1.00
R2888:Dsp	UTSW	13	38,192,248 (GRCm38)	missense	possibly damaging	0.92
R3012:Dsp	UTSW	13	38,193,342 (GRCm38)	missense	possibly damaging	0.61
R3614:Dsp	UTSW	13	38,177,199 (GRCm38)	missense	probably damaging	0.98
R3725:Dsp	UTSW	13	38,197,618 (GRCm38)	missense	probably benign	0.00
R3725:Dsp	UTSW	13	38,194,689 (GRCm38)	splice site	probably null
R3797:Dsp	UTSW	13	38,177,284 (GRCm38)	critical splice donor site	probably null
R3841:Dsp	UTSW	13	38,197,705 (GRCm38)	missense	probably benign
R4030:Dsp	UTSW	13	38,191,428 (GRCm38)	missense	possibly damaging	0.84
R4124:Dsp	UTSW	13	38,186,713 (GRCm38)	missense	probably damaging	1.00
R4279:Dsp	UTSW	13	38,185,231 (GRCm38)	missense	probably damaging	1.00
R4334:Dsp	UTSW	13	38,196,664 (GRCm38)	missense	possibly damaging	0.46
R4419:Dsp	UTSW	13	38,195,132 (GRCm38)	missense	probably damaging	1.00
R4615:Dsp	UTSW	13	38,191,632 (GRCm38)	missense	probably damaging	0.98
R4627:Dsp	UTSW	13	38,168,641 (GRCm38)	missense	probably benign	0.01
R4639:Dsp	UTSW	13	38,196,784 (GRCm38)	missense	probably damaging	1.00
R4687:Dsp	UTSW	13	38,191,619 (GRCm38)	missense	probably damaging	1.00
R4735:Dsp	UTSW	13	38,196,040 (GRCm38)	missense	probably damaging	0.99
R4746:Dsp	UTSW	13	38,195,104 (GRCm38)	missense	possibly damaging	0.51
R4772:Dsp	UTSW	13	38,167,528 (GRCm38)	nonsense	probably null
R4830:Dsp	UTSW	13	38,192,864 (GRCm38)	missense	probably benign
R4850:Dsp	UTSW	13	38,192,469 (GRCm38)	missense	probably damaging	1.00
R4959:Dsp	UTSW	13	38,191,710 (GRCm38)	missense	probably benign	0.41
R4963:Dsp	UTSW	13	38,197,870 (GRCm38)	missense	probably damaging	0.99
R4969:Dsp	UTSW	13	38,192,910 (GRCm38)	missense	probably benign	0.00
R4978:Dsp	UTSW	13	38,182,234 (GRCm38)	missense	probably damaging	1.00
R4989:Dsp	UTSW	13	38,197,702 (GRCm38)	missense	possibly damaging	0.93
R5068:Dsp	UTSW	13	38,197,123 (GRCm38)	missense	possibly damaging	0.78
R5069:Dsp	UTSW	13	38,197,123 (GRCm38)	missense	possibly damaging	0.78
R5070:Dsp	UTSW	13	38,197,123 (GRCm38)	missense	possibly damaging	0.78
R5133:Dsp	UTSW	13	38,197,702 (GRCm38)	missense	possibly damaging	0.93
R5138:Dsp	UTSW	13	38,195,845 (GRCm38)	missense	possibly damaging	0.50
R5138:Dsp	UTSW	13	38,183,298 (GRCm38)	missense	probably benign	0.37
R5153:Dsp	UTSW	13	38,182,306 (GRCm38)	missense	probably damaging	1.00
R5199:Dsp	UTSW	13	38,192,902 (GRCm38)	nonsense	probably null
R5226:Dsp	UTSW	13	38,186,770 (GRCm38)	missense	probably damaging	0.99
R5265:Dsp	UTSW	13	38,195,183 (GRCm38)	missense	possibly damaging	0.95
R5371:Dsp	UTSW	13	38,194,889 (GRCm38)	missense	probably damaging	0.97
R5484:Dsp	UTSW	13	38,184,038 (GRCm38)	missense	possibly damaging	0.48
R5534:Dsp	UTSW	13	38,195,842 (GRCm38)	missense	probably benign	0.01
R5569:Dsp	UTSW	13	38,192,652 (GRCm38)	missense	probably benign	0.01
R5854:Dsp	UTSW	13	38,167,501 (GRCm38)	splice site	probably null
R5910:Dsp	UTSW	13	38,192,469 (GRCm38)	missense	possibly damaging	0.95
R5929:Dsp	UTSW	13	38,195,434 (GRCm38)	missense	possibly damaging	0.92
R5940:Dsp	UTSW	13	38,196,026 (GRCm38)	missense	possibly damaging	0.70
R5948:Dsp	UTSW	13	38,195,401 (GRCm38)	missense	possibly damaging	0.95
R5955:Dsp	UTSW	13	38,194,958 (GRCm38)	missense	possibly damaging	0.73
R5970:Dsp	UTSW	13	38,195,702 (GRCm38)	missense	possibly damaging	0.93
R6054:Dsp	UTSW	13	38,167,609 (GRCm38)	missense	probably benign	0.00
R6113:Dsp	UTSW	13	38,192,047 (GRCm38)	missense	probably damaging	1.00
R6139:Dsp	UTSW	13	38,192,406 (GRCm38)	missense	probably damaging	0.97
R6328:Dsp	UTSW	13	38,197,006 (GRCm38)	nonsense	probably null
R6527:Dsp	UTSW	13	38,195,873 (GRCm38)	missense	probably damaging	1.00
R6573:Dsp	UTSW	13	38,196,862 (GRCm38)	missense	probably damaging	1.00
R6628:Dsp	UTSW	13	38,167,622 (GRCm38)	missense	possibly damaging	0.73
R6738:Dsp	UTSW	13	38,192,210 (GRCm38)	missense	possibly damaging	0.87
R6898:Dsp	UTSW	13	38,192,217 (GRCm38)	missense	possibly damaging	0.59
R6919:Dsp	UTSW	13	38,167,655 (GRCm38)	missense	possibly damaging	0.84
R6951:Dsp	UTSW	13	38,167,646 (GRCm38)	missense	possibly damaging	0.95
R7017:Dsp	UTSW	13	38,186,707 (GRCm38)	missense	probably benign	0.02
R7022:Dsp	UTSW	13	38,191,740 (GRCm38)	missense	probably benign	0.06
R7135:Dsp	UTSW	13	38,179,073 (GRCm38)	missense	probably damaging	1.00
R7192:Dsp	UTSW	13	38,195,593 (GRCm38)	missense	probably benign	0.09
R7211:Dsp	UTSW	13	38,188,535 (GRCm38)	critical splice donor site	probably null
R7251:Dsp	UTSW	13	38,193,548 (GRCm38)	missense	probably benign	0.02
R7326:Dsp	UTSW	13	38,192,883 (GRCm38)	missense	probably benign	0.01
R7369:Dsp	UTSW	13	38,197,525 (GRCm38)	missense	possibly damaging	0.82
R7376:Dsp	UTSW	13	38,172,843 (GRCm38)	missense	probably damaging	1.00
R7406:Dsp	UTSW	13	38,197,196 (GRCm38)	missense	possibly damaging	0.63
R7439:Dsp	UTSW	13	38,195,449 (GRCm38)	missense	probably benign	0.00
R7439:Dsp	UTSW	13	38,176,502 (GRCm38)	critical splice donor site	probably null
R7441:Dsp	UTSW	13	38,195,449 (GRCm38)	missense	probably benign	0.00
R7477:Dsp	UTSW	13	38,172,863 (GRCm38)	missense	probably damaging	1.00
R7535:Dsp	UTSW	13	38,192,789 (GRCm38)	missense	probably benign	0.05
R7558:Dsp	UTSW	13	38,168,766 (GRCm38)	missense	probably benign	0.02
R7600:Dsp	UTSW	13	38,191,715 (GRCm38)	missense	probably damaging	1.00
R7616:Dsp	UTSW	13	38,191,482 (GRCm38)	missense	probably damaging	0.98
R7702:Dsp	UTSW	13	38,175,207 (GRCm38)	missense	possibly damaging	0.83
R7738:Dsp	UTSW	13	38,185,175 (GRCm38)	missense	probably damaging	0.97
R7815:Dsp	UTSW	13	38,191,470 (GRCm38)	missense	probably benign	0.31
R7882:Dsp	UTSW	13	38,184,018 (GRCm38)	missense	possibly damaging	0.76
R7917:Dsp	UTSW	13	38,167,639 (GRCm38)	nonsense	probably null
R7971:Dsp	UTSW	13	38,192,523 (GRCm38)	missense	probably damaging	0.97
R8104:Dsp	UTSW	13	38,168,624 (GRCm38)	missense	probably benign	0.03
R8176:Dsp	UTSW	13	38,192,810 (GRCm38)	missense	possibly damaging	0.56
R8303:Dsp	UTSW	13	38,197,343 (GRCm38)	missense	probably benign
R8323:Dsp	UTSW	13	38,172,830 (GRCm38)	missense	possibly damaging	0.80
R8326:Dsp	UTSW	13	38,191,635 (GRCm38)	missense	probably damaging	1.00
R8358:Dsp	UTSW	13	38,192,481 (GRCm38)	missense	possibly damaging	0.92
R8410:Dsp	UTSW	13	38,196,815 (GRCm38)	missense	possibly damaging	0.94
R8552:Dsp	UTSW	13	38,185,141 (GRCm38)	missense	probably damaging	0.98
R8713:Dsp	UTSW	13	38,168,725 (GRCm38)	missense	probably damaging	0.99
R8801:Dsp	UTSW	13	38,197,526 (GRCm38)	missense	possibly damaging	0.81
R8900:Dsp	UTSW	13	38,181,179 (GRCm38)	missense	probably damaging	0.99
R8901:Dsp	UTSW	13	38,181,179 (GRCm38)	missense	probably damaging	0.99
R8968:Dsp	UTSW	13	38,151,620 (GRCm38)	missense	possibly damaging	0.83
R9021:Dsp	UTSW	13	38,196,832 (GRCm38)	missense	possibly damaging	0.61
R9030:Dsp	UTSW	13	38,168,697 (GRCm38)	missense	probably damaging	1.00
R9124:Dsp	UTSW	13	38,193,300 (GRCm38)	missense	probably benign	0.42
R9129:Dsp	UTSW	13	38,193,150 (GRCm38)	missense	probably benign	0.09
R9143:Dsp	UTSW	13	38,193,361 (GRCm38)	missense	probably benign	0.05
R9450:Dsp	UTSW	13	38,192,403 (GRCm38)	missense	probably damaging	1.00
R9488:Dsp	UTSW	13	38,193,242 (GRCm38)	missense	probably benign	0.04
R9514:Dsp	UTSW	13	38,187,805 (GRCm38)	missense	probably benign	0.02
R9789:Dsp	UTSW	13	38,183,961 (GRCm38)	missense	probably benign	0.03
R9792:Dsp	UTSW	13	38,195,518 (GRCm38)	missense	possibly damaging	0.87
X0023:Dsp	UTSW	13	38,197,684 (GRCm38)	missense	probably benign	0.00
X0024:Dsp	UTSW	13	38,193,255 (GRCm38)	missense	probably benign	0.04
X0027:Dsp	UTSW	13	38,186,646 (GRCm38)	missense	possibly damaging	0.68
X0067:Dsp	UTSW	13	38,182,312 (GRCm38)	missense	possibly damaging	0.85
Z1176:Dsp	UTSW	13	38,197,190 (GRCm38)	missense	possibly damaging	0.81
Z1177:Dsp	UTSW	13	38,192,854 (GRCm38)	frame shift	probably null
Z1177:Dsp	UTSW	13	38,151,689 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GAGGCTGAAGAACACTCTAGCC -3'
(R):5'- TGGGACACCCTCTCATAGTC -3'

Sequencing Primer
(F):5'- GACCACCGAGAACCTCAGGAG -3'
(R):5'- ACCCTCTCATAGTCAATCCGTAG -3'

Posted On

2021-10-11