Mutagenetix > Incidental Mutation

Incidental Mutation 'R0335:D130043K22Rik'

26215

Institutional Source

Beutler Lab

Gene Symbol

D130043K22Rik

Ensembl Gene

ENSMUSG00000006711

Gene Name

RIKEN cDNA D130043K22 gene

Synonyms

MMRRC Submission

038544-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0335 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

24845135-24901270 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24887877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 935 (I935F)

Ref Sequence

ENSEMBL: ENSMUSP00000006893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006893] [ENSMUST00000141572]

AlphaFold

Q5SZV5

Predicted Effect

probably damaging
Transcript: ENSMUST00000006893
AA Change: I935F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711
AA Change: I935F

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Blast:MANEC	23	102	3e-44	BLAST
low complexity region	236	270	N/A	INTRINSIC
FN3	332	427	3.43e1	SMART
PKD	345	436	3.96e0	SMART
FN3	435	521	3.08e1	SMART
PKD	444	533	7.12e-10	SMART
PKD	539	629	1.46e-6	SMART
PKD	630	723	6.75e-11	SMART
FN3	634	711	5.1e1	SMART
FN3	728	808	9.15e1	SMART
PKD	729	820	4.38e-10	SMART
transmembrane domain	965	987	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141572

SMART Domains

Protein: ENSMUSP00000116004
Gene: ENSMUSG00000006711

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Blast:MANEC	23	102	2e-44	BLAST
low complexity region	236	270	N/A	INTRINSIC
FN3	332	427	3.43e1	SMART
PKD	345	436	3.96e0	SMART
FN3	435	521	3.08e1	SMART
PKD	444	533	7.12e-10	SMART
PKD	539	629	1.46e-6	SMART
PKD	630	723	6.75e-11	SMART
FN3	634	711	5.1e1	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 94.6%
20x: 87.5%

Validation Efficiency

100% (89/89)

MGI Phenotype

FUNCTION: This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in a similar gene in human are associated with dyslexia. Alternatively spliced transcript variants have been identifed. [provided by RefSeq, May 2015]
PHENOTYPE: Homozygous knockout results in a mild behavioral phenotype: increased prepulse inhibition in males under certain conditions and decreased anxiety-related response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	G	T	15: 11,311,058 (GRCm38)	D1134Y	possibly damaging	Het
Add3	A	G	19: 53,236,828 (GRCm38)	T460A	probably benign	Het
Amer3	A	C	1: 34,579,300 (GRCm38)		probably benign	Het
Arhgap22	C	T	14: 33,359,108 (GRCm38)		probably benign	Het
Arhgap32	T	G	9: 32,259,760 (GRCm38)	S1279A	probably benign	Het
Bcas1	G	A	2: 170,418,681 (GRCm38)	T26M	probably damaging	Het
Begain	A	T	12: 109,038,934 (GRCm38)	F256I	probably damaging	Het
Bltp1	T	C	3: 36,969,152 (GRCm38)	V2210A	probably damaging	Het
Cabin1	A	T	10: 75,657,049 (GRCm38)	I1804N	probably damaging	Het
Cad	G	A	5: 31,073,985 (GRCm38)		probably benign	Het
Carmil1	G	A	13: 24,073,983 (GRCm38)	S762L	probably damaging	Het
Ccdc93	T	A	1: 121,492,977 (GRCm38)	L529Q	probably damaging	Het
Cdh12	T	A	15: 21,578,549 (GRCm38)		probably null	Het
Cep15	A	G	14: 12,301,266 (GRCm38)	E124G	possibly damaging	Het
Clip2	T	A	5: 134,535,215 (GRCm38)		probably benign	Het
Cmip	T	C	8: 117,445,366 (GRCm38)	I480T	probably damaging	Het
Cnot1	A	T	8: 95,772,000 (GRCm38)	I203K	probably benign	Het
Col18a1	G	A	10: 77,059,363 (GRCm38)	P1155S	probably damaging	Het
Col1a2	T	A	6: 4,531,956 (GRCm38)		probably benign	Het
Crybg3	A	T	16: 59,544,140 (GRCm38)	L2373Q	probably damaging	Het
Dapl1	T	A	2: 59,496,594 (GRCm38)	D61E	possibly damaging	Het
Def6	A	G	17: 28,228,069 (GRCm38)	D558G	possibly damaging	Het
Dnah6	T	C	6: 73,069,399 (GRCm38)		probably benign	Het
Dvl2	G	A	11: 70,001,035 (GRCm38)		probably benign	Het
Ecd	A	C	14: 20,320,734 (GRCm38)	V639G	probably benign	Het
Epg5	C	T	18: 77,986,472 (GRCm38)	T1350M	probably benign	Het
Erbb4	C	A	1: 68,259,259 (GRCm38)	M657I	probably benign	Het
Evi5	T	C	5: 107,812,411 (GRCm38)	R431G	probably benign	Het
Fbxo11	G	A	17: 88,015,613 (GRCm38)	A115V	possibly damaging	Het
Fgfr2	T	C	7: 130,196,249 (GRCm38)	T192A	probably benign	Het
Gas7	C	T	11: 67,662,052 (GRCm38)	A146V	possibly damaging	Het
Gatad2b	T	A	3: 90,356,182 (GRCm38)	S529T	probably benign	Het
Gm10722	G	T	9: 3,001,048 (GRCm38)	Q41H	probably null	Het
Gm10801	G	C	2: 98,664,007 (GRCm38)	R143T	possibly damaging	Het
Gm7535	A	G	17: 17,911,112 (GRCm38)		probably benign	Het
Gstm1	T	A	3: 108,012,696 (GRCm38)	N193I	possibly damaging	Het
Heatr5b	G	A	17: 78,827,946 (GRCm38)	P252L	probably benign	Het
Hmgb1	A	G	5: 149,050,631 (GRCm38)	V36A	probably benign	Het
Hrh1	G	T	6: 114,480,232 (GRCm38)	W158L	probably damaging	Het
Ighv6-4	T	C	12: 114,406,674 (GRCm38)	M53V	probably benign	Het
Iqgap2	T	A	13: 95,635,633 (GRCm38)	D1346V	probably damaging	Het
Kcng3	A	T	17: 83,587,737 (GRCm38)	N433K	possibly damaging	Het
Kif1a	T	A	1: 93,052,566 (GRCm38)		probably benign	Het
Lctl	C	A	9: 64,118,887 (GRCm38)	Q75K	probably benign	Het
Ldb3	T	A	14: 34,578,651 (GRCm38)	I89F	possibly damaging	Het
Lrrc49	A	T	9: 60,677,095 (GRCm38)	L156Q	probably damaging	Het
Mark2	G	T	19: 7,281,828 (GRCm38)	T83K	probably benign	Het
Ms4a15	A	T	19: 10,980,210 (GRCm38)	D170E	probably damaging	Het
Msantd2	A	G	9: 37,522,760 (GRCm38)	S99G	possibly damaging	Het
Nemf	G	T	12: 69,353,803 (GRCm38)	T124N	probably benign	Het
Nlrp9c	A	T	7: 26,394,136 (GRCm38)	F35I	possibly damaging	Het
Nwd2	A	G	5: 63,804,773 (GRCm38)	I567V	probably benign	Het
Optn	C	T	2: 5,024,115 (GRCm38)	G526R	probably damaging	Het
Or11l3	T	C	11: 58,625,740 (GRCm38)	Y102C	probably damaging	Het
Or13p8	A	G	4: 118,727,170 (GRCm38)	I308V	probably null	Het
Or5v1b	A	C	17: 37,530,642 (GRCm38)	I222L	probably benign	Het
Or7g16	T	A	9: 18,815,994 (GRCm38)	Q100L	probably damaging	Het
Pdk4	T	C	6: 5,491,138 (GRCm38)	E209G	probably benign	Het
Plch1	T	C	3: 63,710,978 (GRCm38)	Q712R	probably damaging	Het
Pnpla1	T	A	17: 28,886,878 (GRCm38)	V569E	possibly damaging	Het
Prkar2a	A	T	9: 108,719,258 (GRCm38)	D134V	probably damaging	Het
Ptov1	T	A	7: 44,864,622 (GRCm38)	Q40L	possibly damaging	Het
Ptprq	T	C	10: 107,708,728 (GRCm38)	I314V	probably benign	Het
Rabl2	T	C	15: 89,583,966 (GRCm38)	K66E	probably damaging	Het
Rnf38	A	G	4: 44,152,507 (GRCm38)	V19A	possibly damaging	Het
Scn2a	T	A	2: 65,682,091 (GRCm38)	W191R	probably damaging	Het
Sec22b	T	A	3: 97,921,256 (GRCm38)	F212I	possibly damaging	Het
Sec24c	T	A	14: 20,688,715 (GRCm38)		probably null	Het
Septin2	T	C	1: 93,495,599 (GRCm38)	S51P	probably damaging	Het
Serpinb1a	T	C	13: 32,848,656 (GRCm38)	N90S	probably damaging	Het
Slc1a2	C	T	2: 102,743,863 (GRCm38)	T206I	probably benign	Het
Slc25a19	C	A	11: 115,624,206 (GRCm38)	R42L	probably damaging	Het
St14	G	A	9: 31,091,324 (GRCm38)		probably benign	Het
Stxbp1	C	T	2: 32,802,905 (GRCm38)		probably benign	Het
Tas2r131	C	T	6: 132,957,829 (GRCm38)	V6I	probably benign	Het
Tdo2	T	A	3: 81,964,000 (GRCm38)	M235L	probably benign	Het
Tenm3	T	G	8: 48,232,105 (GRCm38)	H2432P	probably damaging	Het
Tmprss15	C	T	16: 79,024,742 (GRCm38)		probably benign	Het
Tmx1	A	G	12: 70,453,256 (GRCm38)	N30D	probably benign	Het
Tom1	A	G	8: 75,064,392 (GRCm38)		probably null	Het
Top2a	T	C	11: 99,022,955 (GRCm38)	N20S	probably benign	Het
Ttc23l	T	A	15: 10,539,963 (GRCm38)	T145S	probably benign	Het
Unc13b	T	A	4: 43,236,983 (GRCm38)	M3351K	possibly damaging	Het
Vmn1r47	T	C	6: 90,022,659 (GRCm38)	S258P	probably damaging	Het
Vmn2r8	T	G	5: 108,797,451 (GRCm38)		probably null	Het
Vps11	T	C	9: 44,353,838 (GRCm38)	Q641R	probably null	Het
Wapl	T	A	14: 34,692,324 (GRCm38)	I381N	probably damaging	Het
Zmym6	G	A	4: 127,122,808 (GRCm38)	G794E	probably damaging	Het

Other mutations in D130043K22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:D130043K22Rik	APN	13	24,867,174 (GRCm38)	missense	probably damaging	1.00
IGL01114:D130043K22Rik	APN	13	24,857,156 (GRCm38)	missense	probably damaging	0.99
IGL01412:D130043K22Rik	APN	13	24,887,860 (GRCm38)	missense	probably damaging	1.00
IGL01542:D130043K22Rik	APN	13	24,876,037 (GRCm38)	splice site	probably null
IGL01615:D130043K22Rik	APN	13	24,899,796 (GRCm38)	missense	probably damaging	1.00
IGL01705:D130043K22Rik	APN	13	24,857,941 (GRCm38)	missense	probably benign	0.00
IGL02220:D130043K22Rik	APN	13	24,883,755 (GRCm38)	missense	possibly damaging	0.95
IGL02229:D130043K22Rik	APN	13	24,875,924 (GRCm38)	missense	probably damaging	1.00
IGL02576:D130043K22Rik	APN	13	24,856,870 (GRCm38)	missense	possibly damaging	0.74
IGL03038:D130043K22Rik	APN	13	24,879,619 (GRCm38)	missense	probably damaging	1.00
IGL03117:D130043K22Rik	APN	13	24,889,842 (GRCm38)	missense	probably damaging	1.00
IGL03014:D130043K22Rik	UTSW	13	24,858,092 (GRCm38)	missense	possibly damaging	0.88
R0019:D130043K22Rik	UTSW	13	24,880,812 (GRCm38)	missense	probably damaging	1.00
R0019:D130043K22Rik	UTSW	13	24,880,812 (GRCm38)	missense	probably damaging	1.00
R0020:D130043K22Rik	UTSW	13	24,854,492 (GRCm38)	utr 5 prime	probably benign
R0172:D130043K22Rik	UTSW	13	24,872,406 (GRCm38)	missense	probably benign	0.16
R0276:D130043K22Rik	UTSW	13	24,858,045 (GRCm38)	missense	possibly damaging	0.92
R0304:D130043K22Rik	UTSW	13	24,864,815 (GRCm38)	missense	probably benign	0.07
R0744:D130043K22Rik	UTSW	13	24,863,580 (GRCm38)	splice site	probably benign
R0833:D130043K22Rik	UTSW	13	24,863,580 (GRCm38)	splice site	probably benign
R0836:D130043K22Rik	UTSW	13	24,863,580 (GRCm38)	splice site	probably benign
R1270:D130043K22Rik	UTSW	13	24,857,338 (GRCm38)	missense	probably benign	0.00
R1433:D130043K22Rik	UTSW	13	24,871,341 (GRCm38)	missense	probably damaging	1.00
R1682:D130043K22Rik	UTSW	13	24,882,556 (GRCm38)	missense	probably damaging	1.00
R1772:D130043K22Rik	UTSW	13	24,875,999 (GRCm38)	missense	probably damaging	1.00
R1773:D130043K22Rik	UTSW	13	24,882,602 (GRCm38)	missense	possibly damaging	0.80
R1800:D130043K22Rik	UTSW	13	24,883,894 (GRCm38)	missense	probably damaging	1.00
R1956:D130043K22Rik	UTSW	13	24,885,595 (GRCm38)	missense	probably damaging	1.00
R2255:D130043K22Rik	UTSW	13	24,856,911 (GRCm38)	missense	probably damaging	1.00
R2445:D130043K22Rik	UTSW	13	24,857,036 (GRCm38)	missense	probably benign	0.04
R2568:D130043K22Rik	UTSW	13	24,883,891 (GRCm38)	missense	probably damaging	0.97
R4160:D130043K22Rik	UTSW	13	24,862,696 (GRCm38)	missense	probably benign	0.02
R4494:D130043K22Rik	UTSW	13	24,871,356 (GRCm38)	missense	probably benign	0.16
R4732:D130043K22Rik	UTSW	13	24,899,665 (GRCm38)	missense	probably damaging	1.00
R4733:D130043K22Rik	UTSW	13	24,899,665 (GRCm38)	missense	probably damaging	1.00
R4782:D130043K22Rik	UTSW	13	24,878,040 (GRCm38)	missense	probably damaging	1.00
R4799:D130043K22Rik	UTSW	13	24,878,040 (GRCm38)	missense	probably damaging	1.00
R4864:D130043K22Rik	UTSW	13	24,863,612 (GRCm38)	missense	probably damaging	1.00
R5155:D130043K22Rik	UTSW	13	24,872,290 (GRCm38)	missense	probably damaging	1.00
R5240:D130043K22Rik	UTSW	13	24,877,977 (GRCm38)	missense	probably damaging	1.00
R5383:D130043K22Rik	UTSW	13	24,857,414 (GRCm38)	missense	probably benign	0.02
R5493:D130043K22Rik	UTSW	13	24,863,603 (GRCm38)	missense	probably damaging	1.00
R6184:D130043K22Rik	UTSW	13	24,885,591 (GRCm38)	missense	probably damaging	1.00
R6305:D130043K22Rik	UTSW	13	24,885,685 (GRCm38)	missense	probably damaging	1.00
R6436:D130043K22Rik	UTSW	13	24,877,935 (GRCm38)	missense	probably damaging	1.00
R6980:D130043K22Rik	UTSW	13	24,864,781 (GRCm38)	missense	probably damaging	0.98
R7038:D130043K22Rik	UTSW	13	24,893,408 (GRCm38)	missense	probably damaging	1.00
R7085:D130043K22Rik	UTSW	13	24,872,302 (GRCm38)	missense	possibly damaging	0.95
R7147:D130043K22Rik	UTSW	13	24,882,563 (GRCm38)	missense	probably benign	0.31
R7384:D130043K22Rik	UTSW	13	24,882,605 (GRCm38)	missense	probably damaging	1.00
R7398:D130043K22Rik	UTSW	13	24,893,377 (GRCm38)	missense	probably damaging	0.97
R7584:D130043K22Rik	UTSW	13	24,872,370 (GRCm38)	missense	probably damaging	1.00
R7585:D130043K22Rik	UTSW	13	24,885,585 (GRCm38)	missense	probably benign	0.01
R7588:D130043K22Rik	UTSW	13	24,887,893 (GRCm38)	missense	probably damaging	0.99
R7610:D130043K22Rik	UTSW	13	24,876,002 (GRCm38)	missense	probably benign	0.30
R7903:D130043K22Rik	UTSW	13	24,876,012 (GRCm38)	missense	probably damaging	0.98
R7966:D130043K22Rik	UTSW	13	24,893,423 (GRCm38)	missense	probably damaging	1.00
R8014:D130043K22Rik	UTSW	13	24,856,702 (GRCm38)	missense	probably damaging	1.00
R8374:D130043K22Rik	UTSW	13	24,857,979 (GRCm38)	missense	probably benign	0.07
R8543:D130043K22Rik	UTSW	13	24,889,869 (GRCm38)	missense	probably benign	0.08
R8775:D130043K22Rik	UTSW	13	24,856,999 (GRCm38)	nonsense	probably null
R8775-TAIL:D130043K22Rik	UTSW	13	24,856,999 (GRCm38)	nonsense	probably null
R8806:D130043K22Rik	UTSW	13	24,899,635 (GRCm38)	missense	probably benign	0.11
R8916:D130043K22Rik	UTSW	13	24,872,271 (GRCm38)	missense	probably benign
R9209:D130043K22Rik	UTSW	13	24,857,107 (GRCm38)	missense	possibly damaging	0.96
R9524:D130043K22Rik	UTSW	13	24,887,893 (GRCm38)	missense	possibly damaging	0.89
R9743:D130043K22Rik	UTSW	13	24,872,316 (GRCm38)	missense	probably damaging	0.97
Z1177:D130043K22Rik	UTSW	13	24,872,248 (GRCm38)	missense	possibly damaging	0.79
Z1177:D130043K22Rik	UTSW	13	24,856,834 (GRCm38)	missense	probably benign	0.39
Z1177:D130043K22Rik	UTSW	13	24,856,709 (GRCm38)	missense	probably damaging	1.00
Z1177:D130043K22Rik	UTSW	13	24,880,847 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGTAGGTGGTGAGAGTTTATGCTCC -3'
(R):5'- CTAGGTGCCGAGCCAGGGA -3'

Sequencing Primer
(F):5'- tggtggtggtggtggtg -3'
(R):5'- CCAGGGAGAGATGAATATCTCCAAG -3'

Posted On

2013-04-16