Mutagenetix > Incidental Mutation

Incidental Mutation 'R0276:D130043K22Rik'

35401

Institutional Source

Beutler Lab

Gene Symbol

D130043K22Rik

Ensembl Gene

ENSMUSG00000006711

Gene Name

RIKEN cDNA D130043K22 gene

Synonyms

MMRRC Submission

038498-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0276 (G1)

Quality Score

124

Status

Validated

Chromosome

Chromosomal Location

24845135-24901270 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24858045 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 319 (T319I)

Ref Sequence

ENSEMBL: ENSMUSP00000006893 (fasta)

Gene Model

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

AlphaFold

Q5SZV5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006893
AA Change: T319I

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711
AA Change: T319I

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

possibly damaging
Transcript: ENSMUST00000141572
AA Change: T319I

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116004
Gene: ENSMUSG00000006711
AA Change: T319I

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

0.2455

Coding Region Coverage

1x: 98.7%
3x: 97.8%
10x: 96.2%
20x: 93.8%

Validation Efficiency

98% (101/103)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	A	G	2: 26,975,760 (GRCm38)	N109S	possibly damaging	Het
Adcy10	T	A	1: 165,572,591 (GRCm38)	M1523K	possibly damaging	Het
Agtpbp1	C	T	13: 59,462,031 (GRCm38)	S1095N	possibly damaging	Het
Ang2	C	T	14: 51,195,518 (GRCm38)	V136I	probably damaging	Het
Arhgap10	A	T	8: 77,413,581 (GRCm38)	M250K	probably benign	Het
Arhgap33	A	T	7: 30,523,244 (GRCm38)	W1088R	probably benign	Het
Arhgef15	T	C	11: 68,953,472 (GRCm38)		probably benign	Het
Aspm	T	C	1: 139,478,471 (GRCm38)	S1699P	possibly damaging	Het
Atp12a	C	A	14: 56,387,694 (GRCm38)	D1014E	probably damaging	Het
Atp1a4	T	A	1: 172,257,901 (GRCm38)	K45M	probably damaging	Het
Atp8a1	A	T	5: 67,786,673 (GRCm38)		probably benign	Het
Baiap3	A	C	17: 25,243,687 (GRCm38)	F1099C	probably damaging	Het
Bcas3	T	A	11: 85,470,837 (GRCm38)		probably null	Het
Bms1	G	A	6: 118,408,134 (GRCm38)	T371M	possibly damaging	Het
Camta1	C	A	4: 151,075,140 (GRCm38)	R1614L	probably damaging	Het
Capn3	T	C	2: 120,488,065 (GRCm38)		probably benign	Het
Ccdc180	A	G	4: 45,923,534 (GRCm38)	D1105G	probably damaging	Het
Ccdc33	G	T	9: 58,058,392 (GRCm38)	P364Q	probably damaging	Het
Ccdc36	A	T	9: 108,428,440 (GRCm38)	M11K	possibly damaging	Het
Clstn3	A	G	6: 124,431,740 (GRCm38)		probably benign	Het
Cntrl	A	T	2: 35,151,732 (GRCm38)	Y619F	possibly damaging	Het
Col12a1	A	T	9: 79,630,741 (GRCm38)	Y2514*	probably null	Het
Cpt1b	T	C	15: 89,419,959 (GRCm38)	H503R	probably benign	Het
Crb1	T	A	1: 139,323,335 (GRCm38)	T293S	possibly damaging	Het
Dzip1l	G	A	9: 99,660,998 (GRCm38)	R502Q	probably benign	Het
Efcab5	G	A	11: 77,140,923 (GRCm38)	R42W	probably damaging	Het
Efcab5	A	G	11: 77,129,876 (GRCm38)	M673T	probably damaging	Het
F2rl3	A	G	8: 72,762,798 (GRCm38)	T218A	probably benign	Het
Fam135a	C	T	1: 24,067,964 (GRCm38)	R31H	probably damaging	Het
Fam84b	G	T	15: 60,823,674 (GRCm38)	Y74*	probably null	Het
Fcer2a	A	T	8: 3,689,811 (GRCm38)	N53K	possibly damaging	Het
Gm14085	T	A	2: 122,521,928 (GRCm38)	S389T	probably damaging	Het
Golgb1	A	C	16: 36,913,876 (GRCm38)	K1162Q	probably damaging	Het
Gpr137b	A	T	13: 13,367,575 (GRCm38)		probably benign	Het
Haspin	A	T	11: 73,136,487 (GRCm38)	L592Q	probably damaging	Het
Helq	A	G	5: 100,790,147 (GRCm38)	F478L	probably damaging	Het
Il17rb	T	A	14: 30,004,380 (GRCm38)	T84S	probably damaging	Het
Itga4	T	C	2: 79,321,493 (GRCm38)	L880P	probably damaging	Het
Itih5	A	G	2: 10,185,564 (GRCm38)	I61V	possibly damaging	Het
Ivl	G	A	3: 92,571,514 (GRCm38)	L415F	unknown	Het
Kif2a	A	G	13: 106,976,650 (GRCm38)		probably benign	Het
Kmt2d	T	C	15: 98,850,311 (GRCm38)		probably benign	Het
Lars2	A	G	9: 123,438,121 (GRCm38)		probably benign	Het
Lilrb4a	T	C	10: 51,491,581 (GRCm38)	V73A	probably benign	Het
Lrrc8a	A	G	2: 30,256,788 (GRCm38)	D538G	possibly damaging	Het
Lrrk1	G	A	7: 66,296,263 (GRCm38)		probably benign	Het
Mc2r	A	T	18: 68,408,132 (GRCm38)	I30K	possibly damaging	Het
Mybbp1a	C	A	11: 72,450,107 (GRCm38)		probably null	Het
Napg	C	T	18: 62,986,963 (GRCm38)	R149C	probably damaging	Het
Ncam2	A	G	16: 81,517,629 (GRCm38)		probably benign	Het
Nlk	T	C	11: 78,571,475 (GRCm38)	I509V	probably benign	Het
Nlrp2	A	T	7: 5,328,109 (GRCm38)	N429K	probably benign	Het
Nlrp9b	A	G	7: 20,028,498 (GRCm38)	T247A	probably benign	Het
Noxo1	A	T	17: 24,700,162 (GRCm38)		probably null	Het
Olfr1212	T	A	2: 88,958,755 (GRCm38)	C96*	probably null	Het
Olfr139	A	G	11: 74,045,118 (GRCm38)	I52T	probably damaging	Het
Olfr353	A	T	2: 36,890,023 (GRCm38)	M275K	probably benign	Het
Olfr701	A	T	7: 106,818,697 (GRCm38)	I205L	probably benign	Het
Olfr734	C	A	14: 50,320,179 (GRCm38)	A219S	probably benign	Het
Oxr1	T	C	15: 41,820,062 (GRCm38)	S294P	probably damaging	Het
Pfpl	A	G	19: 12,429,237 (GRCm38)	Y284C	probably damaging	Het
Pi16	A	T	17: 29,326,943 (GRCm38)	T232S	probably benign	Het
Plcxd2	A	T	16: 46,009,707 (GRCm38)	N50K	probably benign	Het
Plekhn1	T	A	4: 156,228,246 (GRCm38)	N52Y	probably damaging	Het
Prl2c5	T	C	13: 13,183,049 (GRCm38)		probably benign	Het
Prrc2b	G	A	2: 32,219,654 (GRCm38)	V1080I	probably damaging	Het
Psg28	A	T	7: 18,430,396 (GRCm38)	N130K	probably benign	Het
Psme4	C	A	11: 30,811,980 (GRCm38)	T440K	probably damaging	Het
Ptcd2	T	C	13: 99,321,596 (GRCm38)	K296E	probably benign	Het
Ptprq	T	C	10: 107,542,735 (GRCm38)		probably null	Het
Rab5b	A	C	10: 128,686,746 (GRCm38)		probably null	Het
Rft1	T	A	14: 30,690,583 (GRCm38)	S534T	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
Rsu1	A	T	2: 13,170,135 (GRCm38)		probably benign	Het
Senp6	A	G	9: 80,136,747 (GRCm38)	M887V	probably benign	Het
Sgcz	T	A	8: 37,952,919 (GRCm38)	M60L	probably benign	Het
Siglec1	G	A	2: 131,083,941 (GRCm38)	Q282*	probably null	Het
Sipa1l2	T	C	8: 125,421,940 (GRCm38)	T1655A	probably damaging	Het
Slc43a3	G	A	2: 84,937,663 (GRCm38)		probably benign	Het
Snx29	T	C	16: 11,738,373 (GRCm38)	V756A	probably benign	Het
Spta1	T	A	1: 174,217,894 (GRCm38)	H1539Q	probably damaging	Het
Stk3	A	C	15: 35,099,469 (GRCm38)	S104A	probably damaging	Het
Stk38	C	A	17: 28,992,416 (GRCm38)		probably null	Het
Stx6	T	C	1: 155,174,163 (GRCm38)		probably benign	Het
Thbs4	G	A	13: 92,775,532 (GRCm38)	T230I	probably benign	Het
Thrsp	A	G	7: 97,417,502 (GRCm38)	M1T	probably null	Het
Tmem63b	A	T	17: 45,675,373 (GRCm38)		probably benign	Het
Top2a	A	G	11: 99,009,907 (GRCm38)		probably benign	Het
Tpd52l2	T	C	2: 181,502,059 (GRCm38)		probably null	Het
Trak1	A	G	9: 121,454,338 (GRCm38)	E390G	probably damaging	Het
Trappc3	T	A	4: 126,273,952 (GRCm38)	D101E	possibly damaging	Het
Trhr	A	G	15: 44,197,086 (GRCm38)	M1V	probably null	Het
Triobp	T	A	15: 78,973,676 (GRCm38)	I1159K	probably benign	Het
Unc45a	A	G	7: 80,326,297 (GRCm38)		probably benign	Het
Usb1	A	G	8: 95,333,457 (GRCm38)	D12G	probably damaging	Het
Ushbp1	C	T	8: 71,394,649 (GRCm38)	C113Y	possibly damaging	Het
Vim	A	G	2: 13,574,859 (GRCm38)	K143R	probably benign	Het
Vmn2r75	T	C	7: 86,148,307 (GRCm38)	K766R	probably benign	Het
Wdr92	T	C	11: 17,229,821 (GRCm38)	I274T	probably benign	Het
Xpo5	T	G	17: 46,241,507 (GRCm38)	C1089G	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
R0304:D130043K22Rik	UTSW	13	24,864,815 (GRCm38)	missense	probably benign	0.07
R0335:D130043K22Rik	UTSW	13	24,887,877 (GRCm38)	missense	probably damaging	0.98
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'- TGTTGTCACCCTGATGACCTGACC -3'
(R):5'- TGTGACTGTTATGCCTCAAGGCTG -3'

Sequencing Primer
(F):5'- CGGTGGGCACAAACAATC -3'
(R):5'- CAAGGCTGGGGCCGAAG -3'

Posted On

2013-05-09