Mutagenetix > Incidental Mutation

Incidental Mutation 'R7814:Dsg1a'

628638

Institutional Source

Beutler Lab

Gene Symbol

Dsg1a

Ensembl Gene

ENSMUSG00000069441

Gene Name

desmoglein 1 alpha

Synonyms

Dsg1

MMRRC Submission

045869-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R7814 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20443930-20476410 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 20471572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000076393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077146]

AlphaFold

Q61495

Predicted Effect

probably null
Transcript: ENSMUST00000077146

SMART Domains

Protein: ENSMUSP00000076393
Gene: ENSMUSG00000069441

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	70	155	3.45e-14	SMART
CA	179	267	3.11e-21	SMART
CA	290	384	6.29e-8	SMART
CA	407	485	6.44e-1	SMART
low complexity region	573	584	N/A	INTRINSIC
low complexity region	590	598	N/A	INTRINSIC
Pfam:Cadherin_C	659	781	1.6e-10	PFAM
low complexity region	786	799	N/A	INTRINSIC
internal_repeat_1	823	888	9.56e-6	PROSPERO
internal_repeat_1	908	975	9.56e-6	PROSPERO
low complexity region	983	1004	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (90/90)

MGI Phenotype

FUNCTION: This gene encodes a member of the cadherin family of proteins that forms an integral transmembrane component of desmosomes, the multiprotein complexes involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	C	T	4: 124,744,395 (GRCm39)	G20R	not run	Het
Adamts13	A	T	2: 26,886,561 (GRCm39)	M927L	probably benign	Het
Akap6	T	A	12: 53,187,744 (GRCm39)	N1719K	probably benign	Het
Ank3	G	A	10: 69,822,734 (GRCm39)	V468M		Het
Aox1	A	G	1: 58,124,626 (GRCm39)	T956A	probably benign	Het
Ap4m1	T	C	5: 138,173,079 (GRCm39)	V140A	probably benign	Het
Apc	A	G	18: 34,405,592 (GRCm39)	T173A	probably damaging	Het
Bclaf1	A	G	10: 20,210,365 (GRCm39)	T839A	possibly damaging	Het
Btn2a2	T	A	13: 23,666,976 (GRCm39)	I210F	possibly damaging	Het
Cadps	A	G	14: 12,376,706 (GRCm38)	W1269R	probably damaging	Het
Capn2	G	C	1: 182,319,711 (GRCm39)	P159R	probably damaging	Het
Cblif	C	A	19: 11,727,551 (GRCm39)	P125Q	probably benign	Het
Ccdc134	T	G	15: 82,015,724 (GRCm39)	V68G	probably damaging	Het
Cdh26	A	G	2: 178,111,828 (GRCm39)	T463A	probably damaging	Het
Cfap206	C	T	4: 34,716,347 (GRCm39)	V373I	probably benign	Het
Clpx	T	C	9: 65,231,583 (GRCm39)		probably null	Het
Ctnnd2	A	T	15: 31,020,874 (GRCm39)	Y1145F	probably benign	Het
Ctr9	T	A	7: 110,633,134 (GRCm39)	D127E	probably benign	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Cyp7b1	G	A	3: 18,151,466 (GRCm39)	S249L	probably benign	Het
D630023F18Rik	T	A	1: 65,155,850 (GRCm39)	D125V	possibly damaging	Het
Dbh	A	T	2: 27,064,860 (GRCm39)	Y357F	probably damaging	Het
Dbp	T	A	7: 45,356,414 (GRCm39)	L175Q	probably benign	Het
Dmwd	A	T	7: 18,814,768 (GRCm39)	T473S	probably benign	Het
Dnah9	T	A	11: 65,896,486 (GRCm39)	Q2446L	probably damaging	Het
Dnmbp	T	C	19: 43,842,615 (GRCm39)	K498R	probably benign	Het
Dop1b	T	A	16: 93,596,859 (GRCm39)	I1924N	probably damaging	Het
Dzank1	T	C	2: 144,364,484 (GRCm39)	T38A	probably damaging	Het
Egfem1	A	G	3: 29,740,940 (GRCm39)	H538R	probably damaging	Het
Entpd1	T	C	19: 40,715,891 (GRCm39)	C353R	probably damaging	Het
Ephx2	C	A	14: 66,347,678 (GRCm39)	C78F	probably benign	Het
Faf2	A	T	13: 54,808,774 (GRCm39)	H388L	probably benign	Het
Fam186a	G	A	15: 99,842,545 (GRCm39)	T1233I	possibly damaging	Het
Gfra2	C	A	14: 71,133,410 (GRCm39)	A80E	probably damaging	Het
Gm17175	T	A	14: 51,811,492 (GRCm39)		probably benign	Het
Gm8180	T	C	14: 44,021,103 (GRCm39)	D35G	possibly damaging	Het
Gpr68	C	T	12: 100,845,302 (GRCm39)	V81M	probably damaging	Het
Hsd3b6	A	G	3: 98,718,259 (GRCm39)	L35P	probably damaging	Het
Hspd1	A	C	1: 55,117,803 (GRCm39)	V485G	possibly damaging	Het
Il16	A	G	7: 83,319,348 (GRCm39)	V381A	possibly damaging	Het
Il17rd	G	A	14: 26,822,074 (GRCm39)	C600Y	probably benign	Het
Ins2	C	A	7: 142,233,323 (GRCm39)		probably benign	Het
Iqca1l	G	T	5: 24,750,420 (GRCm39)	Q626K	possibly damaging	Het
Itsn2	T	C	12: 4,708,561 (GRCm39)	I872T	probably benign	Het
Jakmip3	A	T	7: 138,620,858 (GRCm39)	D219V	probably damaging	Het
Jph4	T	C	14: 55,347,192 (GRCm39)	T452A	probably damaging	Het
Kazn	T	C	4: 141,937,481 (GRCm39)	E12G	unknown	Het
Kif20b	A	C	19: 34,928,355 (GRCm39)	S1206R	possibly damaging	Het
Lca5l	A	G	16: 95,963,757 (GRCm39)		probably null	Het
Lgals2	A	T	15: 78,735,533 (GRCm39)	S60R	probably benign	Het
Lrrc37	T	A	11: 103,504,999 (GRCm39)	H2323L	possibly damaging	Het
Map10	A	G	8: 126,398,350 (GRCm39)	E581G	probably benign	Het
Map2k7	G	T	8: 4,293,744 (GRCm39)	R128L	probably benign	Het
Mapk8	G	C	14: 33,132,834 (GRCm39)	S34*	probably null	Het
Mcat	A	G	15: 83,432,110 (GRCm39)	Y253H	probably damaging	Het
Mmp2	T	C	8: 93,576,798 (GRCm39)	L607P	probably benign	Het
Ncor1	A	T	11: 62,224,752 (GRCm39)	V836E	probably damaging	Het
Neb	A	G	2: 52,027,392 (GRCm39)	S7113P	probably damaging	Het
Nphp4	T	C	4: 152,608,729 (GRCm39)	F446L	possibly damaging	Het
Nphp4	G	T	4: 152,628,860 (GRCm39)	D749Y	probably damaging	Het
Or14j4	T	A	17: 37,921,547 (GRCm39)	T32S	probably benign	Het
Or1j10	T	C	2: 36,266,821 (GRCm39)	I11T	possibly damaging	Het
Or4c99	A	G	2: 88,329,416 (GRCm39)		probably benign	Het
Or5k8	T	C	16: 58,644,365 (GRCm39)	K236E	probably damaging	Het
Osbpl11	A	T	16: 33,030,431 (GRCm39)	R220*	probably null	Het
Plrg1	G	A	3: 82,964,144 (GRCm39)	V26M	probably damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Ppfia3	A	C	7: 45,001,686 (GRCm39)	S560A	probably benign	Het
Ppp3cc	T	A	14: 70,462,464 (GRCm39)	N391I	possibly damaging	Het
Prdx6b	T	C	2: 80,123,304 (GRCm39)	S38P	possibly damaging	Het
Psg23	A	T	7: 18,340,839 (GRCm39)	*472R	probably null	Het
Rapgef4	A	T	2: 72,053,461 (GRCm39)	M587L	probably benign	Het
Rfx3	T	A	19: 27,803,470 (GRCm39)	M247L	probably benign	Het
Rgs7	T	A	1: 174,903,635 (GRCm39)	H463L	probably benign	Het
Riiad1	G	T	3: 94,373,162 (GRCm39)	S106R	probably benign	Het
Rims4	A	C	2: 163,760,548 (GRCm39)	I19S	probably benign	Het
Ros1	A	T	10: 51,972,233 (GRCm39)	M1648K	probably benign	Het
Rrn3	T	C	16: 13,629,453 (GRCm39)	F590L	probably benign	Het
Samd9l	T	A	6: 3,374,793 (GRCm39)	T823S	possibly damaging	Het
Sfxn1	C	A	13: 54,245,250 (GRCm39)	P115Q	possibly damaging	Het
Slc10a7	T	C	8: 79,425,202 (GRCm39)		probably null	Het
Slc25a16	A	T	10: 62,773,199 (GRCm39)	M142L	probably benign	Het
Stat2	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	10: 128,126,597 (GRCm39)		probably benign	Het
Stat5a	T	G	11: 100,765,853 (GRCm39)	L313R	probably damaging	Het
Strap	A	G	6: 137,718,976 (GRCm39)	E176G	possibly damaging	Het
Tlr4	T	G	4: 66,759,316 (GRCm39)	L703R	probably damaging	Het
Trim36	A	T	18: 46,300,691 (GRCm39)	V660D	possibly damaging	Het
Tspoap1	T	A	11: 87,666,350 (GRCm39)	D980E	probably damaging	Het
Usp28	T	C	9: 48,915,218 (GRCm39)	V157A	probably benign	Het
Vmn2r17	A	T	5: 109,575,739 (GRCm39)	R203S	probably benign	Het
Vmn2r66	T	C	7: 84,656,472 (GRCm39)	I181M	probably benign	Het
Zan	T	A	5: 137,461,841 (GRCm39)	T1113S	unknown	Het
Zfp442	C	T	2: 150,251,402 (GRCm39)	D167N	possibly damaging	Het

Other mutations in Dsg1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Dsg1a	APN	18	20,473,263 (GRCm39)	missense	probably damaging	1.00
IGL01148:Dsg1a	APN	18	20,453,982 (GRCm39)	missense	probably damaging	0.97
IGL01534:Dsg1a	APN	18	20,474,053 (GRCm39)	missense	probably benign	0.06
IGL01566:Dsg1a	APN	18	20,469,840 (GRCm39)	splice site	probably benign
IGL01582:Dsg1a	APN	18	20,461,905 (GRCm39)	missense	probably null	1.00
IGL01913:Dsg1a	APN	18	20,455,293 (GRCm39)	missense	probably damaging	1.00
IGL01926:Dsg1a	APN	18	20,466,641 (GRCm39)	missense	possibly damaging	0.60
IGL02102:Dsg1a	APN	18	20,465,089 (GRCm39)	missense	probably benign	0.01
IGL02900:Dsg1a	APN	18	20,461,713 (GRCm39)	splice site	probably benign
IGL02937:Dsg1a	APN	18	20,464,591 (GRCm39)	missense	possibly damaging	0.93
IGL02962:Dsg1a	APN	18	20,473,381 (GRCm39)	missense	possibly damaging	0.92
IGL03003:Dsg1a	APN	18	20,469,876 (GRCm39)	missense	probably benign	0.43
PIT4687001:Dsg1a	UTSW	18	20,464,755 (GRCm39)	missense	probably benign	0.16
R0126:Dsg1a	UTSW	18	20,473,935 (GRCm39)	missense	probably benign	0.00
R0200:Dsg1a	UTSW	18	20,473,995 (GRCm39)	missense	probably benign	0.00
R0284:Dsg1a	UTSW	18	20,464,684 (GRCm39)	missense	probably damaging	0.98
R0394:Dsg1a	UTSW	18	20,466,807 (GRCm39)	missense	probably damaging	1.00
R0543:Dsg1a	UTSW	18	20,473,920 (GRCm39)	missense	probably damaging	1.00
R0656:Dsg1a	UTSW	18	20,468,949 (GRCm39)	splice site	probably benign
R0733:Dsg1a	UTSW	18	20,471,725 (GRCm39)	missense	probably damaging	0.97
R0750:Dsg1a	UTSW	18	20,473,210 (GRCm39)	missense	probably benign	0.10
R1300:Dsg1a	UTSW	18	20,465,206 (GRCm39)	missense	probably benign	0.19
R1501:Dsg1a	UTSW	18	20,465,076 (GRCm39)	missense	probably damaging	1.00
R1523:Dsg1a	UTSW	18	20,455,374 (GRCm39)	missense	probably damaging	0.99
R1673:Dsg1a	UTSW	18	20,464,561 (GRCm39)	missense	probably damaging	1.00
R1980:Dsg1a	UTSW	18	20,471,707 (GRCm39)	missense	probably damaging	1.00
R2102:Dsg1a	UTSW	18	20,466,830 (GRCm39)	missense	probably damaging	1.00
R2132:Dsg1a	UTSW	18	20,473,854 (GRCm39)	missense	probably damaging	1.00
R2299:Dsg1a	UTSW	18	20,473,207 (GRCm39)	missense	probably damaging	1.00
R2426:Dsg1a	UTSW	18	20,469,861 (GRCm39)	missense	probably damaging	0.96
R3031:Dsg1a	UTSW	18	20,473,549 (GRCm39)	missense	probably damaging	1.00
R4044:Dsg1a	UTSW	18	20,457,087 (GRCm39)	missense	probably damaging	1.00
R4075:Dsg1a	UTSW	18	20,473,127 (GRCm39)	missense	possibly damaging	0.53
R4644:Dsg1a	UTSW	18	20,473,785 (GRCm39)	missense	probably benign	0.04
R4661:Dsg1a	UTSW	18	20,473,590 (GRCm39)	missense	probably damaging	0.99
R4816:Dsg1a	UTSW	18	20,466,779 (GRCm39)	missense	probably benign	0.10
R5221:Dsg1a	UTSW	18	20,457,071 (GRCm39)	missense	possibly damaging	0.64
R5257:Dsg1a	UTSW	18	20,453,988 (GRCm39)	missense	probably damaging	1.00
R5360:Dsg1a	UTSW	18	20,474,011 (GRCm39)	missense	probably damaging	0.96
R5547:Dsg1a	UTSW	18	20,469,097 (GRCm39)	critical splice donor site	probably null
R5702:Dsg1a	UTSW	18	20,469,922 (GRCm39)	critical splice donor site	probably null
R5987:Dsg1a	UTSW	18	20,464,599 (GRCm39)	missense	probably damaging	1.00
R6108:Dsg1a	UTSW	18	20,473,304 (GRCm39)	missense	probably benign	0.19
R6170:Dsg1a	UTSW	18	20,469,043 (GRCm39)	missense	probably damaging	0.99
R7018:Dsg1a	UTSW	18	20,461,795 (GRCm39)	missense	possibly damaging	0.48
R7201:Dsg1a	UTSW	18	20,461,368 (GRCm39)	missense	probably damaging	0.98
R7730:Dsg1a	UTSW	18	20,464,768 (GRCm39)	missense	possibly damaging	0.77
R8185:Dsg1a	UTSW	18	20,473,669 (GRCm39)	missense	probably damaging	1.00
R8297:Dsg1a	UTSW	18	20,465,090 (GRCm39)	missense	probably benign	0.02
R8377:Dsg1a	UTSW	18	20,466,831 (GRCm39)	missense	probably damaging	1.00
R8409:Dsg1a	UTSW	18	20,473,208 (GRCm39)	missense	probably damaging	1.00
R8775:Dsg1a	UTSW	18	20,473,564 (GRCm39)	missense	probably damaging	0.98
R8775-TAIL:Dsg1a	UTSW	18	20,473,564 (GRCm39)	missense	probably damaging	0.98
R8818:Dsg1a	UTSW	18	20,473,599 (GRCm39)	missense	possibly damaging	0.87
R8821:Dsg1a	UTSW	18	20,453,365 (GRCm39)	missense	probably damaging	0.96
R8831:Dsg1a	UTSW	18	20,453,365 (GRCm39)	missense	probably damaging	0.96
R9030:Dsg1a	UTSW	18	20,473,549 (GRCm39)	missense	probably damaging	1.00
R9205:Dsg1a	UTSW	18	20,473,228 (GRCm39)	missense	probably damaging	1.00
R9239:Dsg1a	UTSW	18	20,473,750 (GRCm39)	missense	probably damaging	1.00
R9410:Dsg1a	UTSW	18	20,464,590 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TACAGGAGCCCTTGTGCATC -3'
(R):5'- TGCAGCTGATGTTTTAACTCCATC -3'

Sequencing Primer
(F):5'- GGAGCCCTTGTGCATCCAAAAATAC -3'
(R):5'- CATCCATTAGTTCAAATCCTGTGG -3'

Posted On

2020-06-01