Mutagenetix > Incidental Mutation

Incidental Mutation 'R1800:D130043K22Rik'

203073

Institutional Source

Beutler Lab

Gene Symbol

D130043K22Rik

Ensembl Gene

ENSMUSG00000006711

Gene Name

RIKEN cDNA D130043K22 gene

Synonyms

Kiaa0319

MMRRC Submission

039830-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1800 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25029118-25085253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 25067877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 871 (D871A)

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: D871A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711
AA Change: D871A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169411

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.2%

Validation Efficiency

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,772,479 (GRCm39)	K556R	probably damaging	Het
4933406P04Rik	A	T	10: 20,186,893 (GRCm39)		probably benign	Het
Acmsd	C	A	1: 127,687,493 (GRCm39)	Y258*	probably null	Het
Adgrf5	A	T	17: 43,761,973 (GRCm39)	I1223F	probably damaging	Het
Afp	C	T	5: 90,638,655 (GRCm39)	P6S	probably benign	Het
Agap2	C	A	10: 126,927,540 (GRCm39)	H1120Q	probably damaging	Het
Angpt1	A	G	15: 42,375,800 (GRCm39)	V152A	probably damaging	Het
Ankrd1	A	T	19: 36,096,759 (GRCm39)	F23I	probably damaging	Het
Armc12	T	C	17: 28,757,869 (GRCm39)	S334P	possibly damaging	Het
Arnt2	C	A	7: 83,924,583 (GRCm39)	D415Y	probably damaging	Het
Cacna1s	G	T	1: 136,004,592 (GRCm39)	V131L	probably benign	Het
Cacna2d2	T	C	9: 107,404,632 (GRCm39)	V1141A	possibly damaging	Het
Cfap61	T	C	2: 145,884,542 (GRCm39)	L580P	probably damaging	Het
Chga	A	T	12: 102,522,164 (GRCm39)	S23C	probably damaging	Het
Chrna5	A	G	9: 54,912,159 (GRCm39)	T320A	probably damaging	Het
Col17a1	G	T	19: 47,639,301 (GRCm39)	N1081K	possibly damaging	Het
Cox7b2	A	T	5: 71,600,406 (GRCm39)	C51S	possibly damaging	Het
Cstdc3	T	A	16: 36,132,895 (GRCm39)	D57E	probably damaging	Het
Cwc22	A	T	2: 77,759,797 (GRCm39)	D83E	possibly damaging	Het
Dab2	A	T	15: 6,464,948 (GRCm39)	M361L	probably benign	Het
Dnah11	A	C	12: 117,880,523 (GRCm39)	Y3866D	probably damaging	Het
Dnmbp	A	G	19: 43,890,159 (GRCm39)	I536T	probably benign	Het
Ehmt1	A	T	2: 24,774,302 (GRCm39)	S43R	probably damaging	Het
Ercc5	T	C	1: 44,212,540 (GRCm39)	L666P	probably benign	Het
F5	A	G	1: 164,010,403 (GRCm39)	H378R	probably damaging	Het
Fat2	A	T	11: 55,174,718 (GRCm39)	N1998K	probably damaging	Het
Fbxo28	T	C	1: 182,169,099 (GRCm39)	D13G	unknown	Het
Fras1	T	C	5: 96,857,741 (GRCm39)	S2012P	probably benign	Het
Gm5624	T	A	14: 44,799,302 (GRCm39)	N41I	probably damaging	Het
Gm8104	A	G	14: 42,959,028 (GRCm39)	I73V	possibly damaging	Het
Gpr141b	T	C	13: 19,913,849 (GRCm39)		noncoding transcript	Het
Gpr68	G	A	12: 100,845,167 (GRCm39)	P126S	probably damaging	Het
Gucy1a2	A	T	9: 3,582,685 (GRCm39)	T156S	possibly damaging	Het
Hacl1	T	A	14: 31,336,221 (GRCm39)	Y429F	probably damaging	Het
Haus3	A	C	5: 34,320,916 (GRCm39)	L510R	probably damaging	Het
Helq	C	T	5: 100,921,990 (GRCm39)	G738D	probably benign	Het
Hsd3b2	G	C	3: 98,619,553 (GRCm39)	P131A	probably damaging	Het
Il22ra1	G	T	4: 135,475,471 (GRCm39)	C247F	probably benign	Het
Ivl	T	C	3: 92,479,891 (GRCm39)	E58G	unknown	Het
Kcnk9	G	T	15: 72,417,948 (GRCm39)	Q61K	probably benign	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Loxhd1	G	T	18: 77,490,198 (GRCm39)	A1314S	probably damaging	Het
Lratd1	T	C	12: 14,200,226 (GRCm39)	Y167C	probably damaging	Het
Lrba	A	G	3: 86,259,175 (GRCm39)	I1397V	probably benign	Het
Lrig3	T	A	10: 125,832,920 (GRCm39)		probably null	Het
Lrrc36	A	G	8: 106,176,397 (GRCm39)	D378G	probably damaging	Het
Lrrc49	G	A	9: 60,505,474 (GRCm39)	T527I	probably damaging	Het
Map4k4	C	A	1: 40,062,620 (GRCm39)	T1195K	probably damaging	Het
Mrps33	G	A	6: 39,779,429 (GRCm39)	R89C	probably damaging	Het
Mtor	T	C	4: 148,547,349 (GRCm39)	V444A	probably benign	Het
Myh2	A	G	11: 67,079,764 (GRCm39)	E1046G	probably damaging	Het
Myo15b	G	T	11: 115,771,335 (GRCm39)		probably null	Het
Myo5c	T	C	9: 75,153,446 (GRCm39)	Y111H	probably damaging	Het
Ncoa4-ps	A	T	12: 119,225,506 (GRCm39)		noncoding transcript	Het
Ndufv2	G	C	17: 66,390,481 (GRCm39)	T163R	probably damaging	Het
Nf1	A	G	11: 79,444,794 (GRCm39)	N373S	possibly damaging	Het
Nwd2	A	G	5: 63,962,917 (GRCm39)	M834V	probably benign	Het
Ogfod2	T	C	5: 124,253,019 (GRCm39)	V343A	probably damaging	Het
Or11g2	C	T	14: 50,856,143 (GRCm39)	L155F	probably benign	Het
Or11j4	C	A	14: 50,630,786 (GRCm39)	S191*	probably null	Het
Or3a1b	A	T	11: 74,012,234 (GRCm39)	T40S	probably benign	Het
Or4c115	T	A	2: 88,928,050 (GRCm39)	T74S	probably benign	Het
Or51ag1	T	C	7: 103,155,248 (GRCm39)	I302V	possibly damaging	Het
Or52ab2	T	A	7: 102,969,621 (GRCm39)	M1K	probably null	Het
Or8g34	A	T	9: 39,373,410 (GRCm39)	I228F	probably damaging	Het
Parp1	T	A	1: 180,428,091 (GRCm39)		probably null	Het
Ppp3ca	A	T	3: 136,640,792 (GRCm39)	I448F	probably damaging	Het
Prss44	T	C	9: 110,646,272 (GRCm39)	V333A	probably damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Rars1	A	C	11: 35,716,822 (GRCm39)	D231E	probably benign	Het
Rfc1	T	C	5: 65,421,722 (GRCm39)	Y1059C	probably damaging	Het
Rilpl1	T	A	5: 124,652,719 (GRCm39)	I2F	probably damaging	Het
Sarm1	G	T	11: 78,381,820 (GRCm39)	A221E	possibly damaging	Het
Serpina3f	A	G	12: 104,183,665 (GRCm39)	T176A	probably damaging	Het
Slc22a20	T	C	19: 6,035,695 (GRCm39)	E131G	probably benign	Het
Slc26a11	T	C	11: 119,263,979 (GRCm39)	V343A	probably damaging	Het
Slc2a4	A	G	11: 69,837,133 (GRCm39)	I9T	probably benign	Het
Slc39a6	G	T	18: 24,718,259 (GRCm39)	D599E	probably damaging	Het
Slc5a6	G	T	5: 31,198,020 (GRCm39)	S285*	probably null	Het
Spata9	A	G	13: 76,125,760 (GRCm39)	H81R	probably benign	Het
St7l	A	G	3: 104,826,812 (GRCm39)	E436G	probably damaging	Het
Tecrl	A	G	5: 83,427,077 (GRCm39)	I357T	probably damaging	Het
Thop1	C	T	10: 80,909,043 (GRCm39)	R25C	probably damaging	Het
Tmprss12	A	G	15: 100,190,428 (GRCm39)	E266G	probably benign	Het
Tpgs1	T	A	10: 79,511,344 (GRCm39)	V162D	possibly damaging	Het
Trpa1	C	T	1: 14,944,648 (GRCm39)	R1032Q	probably benign	Het
Tspan12	A	G	6: 21,795,699 (GRCm39)	Y164H	probably damaging	Het
Ubr4	T	C	4: 139,135,274 (GRCm39)	Y869H	probably damaging	Het
Vmn1r21	A	G	6: 57,820,799 (GRCm39)	I215T	probably benign	Het
Zan	A	T	5: 137,384,713 (GRCm39)	S5104T	unknown	Het
Zfp318	T	C	17: 46,722,980 (GRCm39)	V1661A	probably benign	Het
Zfp365	C	T	10: 67,724,772 (GRCm39)	R372K	probably damaging	Het

Other mutations in D130043K22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:D130043K22Rik	APN	13	25,051,157 (GRCm39)	missense	probably damaging	1.00
IGL01114:D130043K22Rik	APN	13	25,041,139 (GRCm39)	missense	probably damaging	0.99
IGL01412:D130043K22Rik	APN	13	25,071,843 (GRCm39)	missense	probably damaging	1.00
IGL01542:D130043K22Rik	APN	13	25,060,020 (GRCm39)	splice site	probably null
IGL01615:D130043K22Rik	APN	13	25,083,779 (GRCm39)	missense	probably damaging	1.00
IGL01705:D130043K22Rik	APN	13	25,041,924 (GRCm39)	missense	probably benign	0.00
IGL02220:D130043K22Rik	APN	13	25,067,738 (GRCm39)	missense	possibly damaging	0.95
IGL02229:D130043K22Rik	APN	13	25,059,907 (GRCm39)	missense	probably damaging	1.00
IGL02576:D130043K22Rik	APN	13	25,040,853 (GRCm39)	missense	possibly damaging	0.74
IGL03038:D130043K22Rik	APN	13	25,063,602 (GRCm39)	missense	probably damaging	1.00
IGL03117:D130043K22Rik	APN	13	25,073,825 (GRCm39)	missense	probably damaging	1.00
IGL03014:D130043K22Rik	UTSW	13	25,042,075 (GRCm39)	missense	possibly damaging	0.88
R0019:D130043K22Rik	UTSW	13	25,064,795 (GRCm39)	missense	probably damaging	1.00
R0019:D130043K22Rik	UTSW	13	25,064,795 (GRCm39)	missense	probably damaging	1.00
R0020:D130043K22Rik	UTSW	13	25,038,475 (GRCm39)	utr 5 prime	probably benign
R0172:D130043K22Rik	UTSW	13	25,056,389 (GRCm39)	missense	probably benign	0.16
R0276:D130043K22Rik	UTSW	13	25,042,028 (GRCm39)	missense	possibly damaging	0.92
R0304:D130043K22Rik	UTSW	13	25,048,798 (GRCm39)	missense	probably benign	0.07
R0335:D130043K22Rik	UTSW	13	25,071,860 (GRCm39)	missense	probably damaging	0.98
R0744:D130043K22Rik	UTSW	13	25,047,563 (GRCm39)	splice site	probably benign
R0833:D130043K22Rik	UTSW	13	25,047,563 (GRCm39)	splice site	probably benign
R0836:D130043K22Rik	UTSW	13	25,047,563 (GRCm39)	splice site	probably benign
R1270:D130043K22Rik	UTSW	13	25,041,321 (GRCm39)	missense	probably benign	0.00
R1433:D130043K22Rik	UTSW	13	25,055,324 (GRCm39)	missense	probably damaging	1.00
R1682:D130043K22Rik	UTSW	13	25,066,539 (GRCm39)	missense	probably damaging	1.00
R1772:D130043K22Rik	UTSW	13	25,059,982 (GRCm39)	missense	probably damaging	1.00
R1773:D130043K22Rik	UTSW	13	25,066,585 (GRCm39)	missense	possibly damaging	0.80
R1956:D130043K22Rik	UTSW	13	25,069,578 (GRCm39)	missense	probably damaging	1.00
R2255:D130043K22Rik	UTSW	13	25,040,894 (GRCm39)	missense	probably damaging	1.00
R2445:D130043K22Rik	UTSW	13	25,041,019 (GRCm39)	missense	probably benign	0.04
R2568:D130043K22Rik	UTSW	13	25,067,874 (GRCm39)	missense	probably damaging	0.97
R4160:D130043K22Rik	UTSW	13	25,046,679 (GRCm39)	missense	probably benign	0.02
R4494:D130043K22Rik	UTSW	13	25,055,339 (GRCm39)	missense	probably benign	0.16
R4732:D130043K22Rik	UTSW	13	25,083,648 (GRCm39)	missense	probably damaging	1.00
R4733:D130043K22Rik	UTSW	13	25,083,648 (GRCm39)	missense	probably damaging	1.00
R4782:D130043K22Rik	UTSW	13	25,062,023 (GRCm39)	missense	probably damaging	1.00
R4799:D130043K22Rik	UTSW	13	25,062,023 (GRCm39)	missense	probably damaging	1.00
R4864:D130043K22Rik	UTSW	13	25,047,595 (GRCm39)	missense	probably damaging	1.00
R5155:D130043K22Rik	UTSW	13	25,056,273 (GRCm39)	missense	probably damaging	1.00
R5240:D130043K22Rik	UTSW	13	25,061,960 (GRCm39)	missense	probably damaging	1.00
R5383:D130043K22Rik	UTSW	13	25,041,397 (GRCm39)	missense	probably benign	0.02
R5493:D130043K22Rik	UTSW	13	25,047,586 (GRCm39)	missense	probably damaging	1.00
R6184:D130043K22Rik	UTSW	13	25,069,574 (GRCm39)	missense	probably damaging	1.00
R6305:D130043K22Rik	UTSW	13	25,069,668 (GRCm39)	missense	probably damaging	1.00
R6436:D130043K22Rik	UTSW	13	25,061,918 (GRCm39)	missense	probably damaging	1.00
R6980:D130043K22Rik	UTSW	13	25,048,764 (GRCm39)	missense	probably damaging	0.98
R7038:D130043K22Rik	UTSW	13	25,077,391 (GRCm39)	missense	probably damaging	1.00
R7085:D130043K22Rik	UTSW	13	25,056,285 (GRCm39)	missense	possibly damaging	0.95
R7147:D130043K22Rik	UTSW	13	25,066,546 (GRCm39)	missense	probably benign	0.31
R7384:D130043K22Rik	UTSW	13	25,066,588 (GRCm39)	missense	probably damaging	1.00
R7398:D130043K22Rik	UTSW	13	25,077,360 (GRCm39)	missense	probably damaging	0.97
R7584:D130043K22Rik	UTSW	13	25,056,353 (GRCm39)	missense	probably damaging	1.00
R7585:D130043K22Rik	UTSW	13	25,069,568 (GRCm39)	missense	probably benign	0.01
R7588:D130043K22Rik	UTSW	13	25,071,876 (GRCm39)	missense	probably damaging	0.99
R7610:D130043K22Rik	UTSW	13	25,059,985 (GRCm39)	missense	probably benign	0.30
R7903:D130043K22Rik	UTSW	13	25,059,995 (GRCm39)	missense	probably damaging	0.98
R7966:D130043K22Rik	UTSW	13	25,077,406 (GRCm39)	missense	probably damaging	1.00
R8014:D130043K22Rik	UTSW	13	25,040,685 (GRCm39)	missense	probably damaging	1.00
R8374:D130043K22Rik	UTSW	13	25,041,962 (GRCm39)	missense	probably benign	0.07
R8543:D130043K22Rik	UTSW	13	25,073,852 (GRCm39)	missense	probably benign	0.08
R8775:D130043K22Rik	UTSW	13	25,040,982 (GRCm39)	nonsense	probably null
R8775-TAIL:D130043K22Rik	UTSW	13	25,040,982 (GRCm39)	nonsense	probably null
R8806:D130043K22Rik	UTSW	13	25,083,618 (GRCm39)	missense	probably benign	0.11
R8916:D130043K22Rik	UTSW	13	25,056,254 (GRCm39)	missense	probably benign
R9209:D130043K22Rik	UTSW	13	25,041,090 (GRCm39)	missense	possibly damaging	0.96
R9524:D130043K22Rik	UTSW	13	25,071,876 (GRCm39)	missense	possibly damaging	0.89
R9743:D130043K22Rik	UTSW	13	25,056,299 (GRCm39)	missense	probably damaging	0.97
Z1177:D130043K22Rik	UTSW	13	25,056,231 (GRCm39)	missense	possibly damaging	0.79
Z1177:D130043K22Rik	UTSW	13	25,040,817 (GRCm39)	missense	probably benign	0.39
Z1177:D130043K22Rik	UTSW	13	25,040,692 (GRCm39)	missense	probably damaging	1.00
Z1177:D130043K22Rik	UTSW	13	25,064,830 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCTCCCATGAAAATCCTGTGTC -3'
(R):5'- AGTCCAGACAACTGTTTGGC -3'

Sequencing Primer
(F):5'- ATGAAAATCCTGTGTCCTCTCC -3'
(R):5'- TGTTTGGCTGATGAAAATTACAGAGG -3'

Posted On

2014-06-23