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

Kiaa0319

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

25029118-25085253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25071860 bp (GRCm39)

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: 11,311,144 (GRCm39)	D1134Y	possibly damaging	Het
Add3	A	G	19: 53,225,259 (GRCm39)	T460A	probably benign	Het
Amer3	A	C	1: 34,618,381 (GRCm39)		probably benign	Het
Arhgap22	C	T	14: 33,081,065 (GRCm39)		probably benign	Het
Arhgap32	T	G	9: 32,171,056 (GRCm39)	S1279A	probably benign	Het
Bcas1	G	A	2: 170,260,601 (GRCm39)	T26M	probably damaging	Het
Begain	A	T	12: 109,004,860 (GRCm39)	F256I	probably damaging	Het
Bltp1	T	C	3: 37,023,301 (GRCm39)	V2210A	probably damaging	Het
Cabin1	A	T	10: 75,492,883 (GRCm39)	I1804N	probably damaging	Het
Cad	G	A	5: 31,231,329 (GRCm39)		probably benign	Het
Carmil1	G	A	13: 24,257,966 (GRCm39)	S762L	probably damaging	Het
Ccdc93	T	A	1: 121,420,706 (GRCm39)	L529Q	probably damaging	Het
Cdh12	T	A	15: 21,578,635 (GRCm39)		probably null	Het
Cep15	A	G	14: 12,301,266 (GRCm38)	E124G	possibly damaging	Het
Clip2	T	A	5: 134,564,069 (GRCm39)		probably benign	Het
Cmip	T	C	8: 118,172,105 (GRCm39)	I480T	probably damaging	Het
Cnot1	A	T	8: 96,498,628 (GRCm39)	I203K	probably benign	Het
Col18a1	G	A	10: 76,895,197 (GRCm39)	P1155S	probably damaging	Het
Col1a2	T	A	6: 4,531,956 (GRCm39)		probably benign	Het
Crybg3	A	T	16: 59,364,503 (GRCm39)	L2373Q	probably damaging	Het
Dapl1	T	A	2: 59,326,938 (GRCm39)	D61E	possibly damaging	Het
Def6	A	G	17: 28,447,043 (GRCm39)	D558G	possibly damaging	Het
Dnah6	T	C	6: 73,046,382 (GRCm39)		probably benign	Het
Dvl2	G	A	11: 69,891,861 (GRCm39)		probably benign	Het
Ecd	A	C	14: 20,370,802 (GRCm39)	V639G	probably benign	Het
Epg5	C	T	18: 78,029,687 (GRCm39)	T1350M	probably benign	Het
Erbb4	C	A	1: 68,298,418 (GRCm39)	M657I	probably benign	Het
Evi5	T	C	5: 107,960,277 (GRCm39)	R431G	probably benign	Het
Fbxo11	G	A	17: 88,323,041 (GRCm39)	A115V	possibly damaging	Het
Fgfr2	T	C	7: 129,797,979 (GRCm39)	T192A	probably benign	Het
Gas7	C	T	11: 67,552,878 (GRCm39)	A146V	possibly damaging	Het
Gatad2b	T	A	3: 90,263,489 (GRCm39)	S529T	probably benign	Het
Gm10722	G	T	9: 3,001,048 (GRCm39)	Q41H	probably null	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gm7535	A	G	17: 18,131,374 (GRCm39)		probably benign	Het
Gstm1	T	A	3: 107,920,012 (GRCm39)	N193I	possibly damaging	Het
Heatr5b	G	A	17: 79,135,375 (GRCm39)	P252L	probably benign	Het
Hmgb1	A	G	5: 148,987,441 (GRCm39)	V36A	probably benign	Het
Hrh1	G	T	6: 114,457,193 (GRCm39)	W158L	probably damaging	Het
Ighv6-4	T	C	12: 114,370,294 (GRCm39)	M53V	probably benign	Het
Iqgap2	T	A	13: 95,772,141 (GRCm39)	D1346V	probably damaging	Het
Kcng3	A	T	17: 83,895,166 (GRCm39)	N433K	possibly damaging	Het
Kif1a	T	A	1: 92,980,288 (GRCm39)		probably benign	Het
Lctl	C	A	9: 64,026,169 (GRCm39)	Q75K	probably benign	Het
Ldb3	T	A	14: 34,300,608 (GRCm39)	I89F	possibly damaging	Het
Lrrc49	A	T	9: 60,584,378 (GRCm39)	L156Q	probably damaging	Het
Mark2	G	T	19: 7,259,193 (GRCm39)	T83K	probably benign	Het
Ms4a15	A	T	19: 10,957,574 (GRCm39)	D170E	probably damaging	Het
Msantd2	A	G	9: 37,434,056 (GRCm39)	S99G	possibly damaging	Het
Nemf	G	T	12: 69,400,577 (GRCm39)	T124N	probably benign	Het
Nlrp9c	A	T	7: 26,093,561 (GRCm39)	F35I	possibly damaging	Het
Nwd2	A	G	5: 63,962,116 (GRCm39)	I567V	probably benign	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or11l3	T	C	11: 58,516,566 (GRCm39)	Y102C	probably damaging	Het
Or13p8	A	G	4: 118,584,367 (GRCm39)	I308V	probably null	Het
Or5v1b	A	C	17: 37,841,533 (GRCm39)	I222L	probably benign	Het
Or7g16	T	A	9: 18,727,290 (GRCm39)	Q100L	probably damaging	Het
Pdk4	T	C	6: 5,491,138 (GRCm39)	E209G	probably benign	Het
Plch1	T	C	3: 63,618,399 (GRCm39)	Q712R	probably damaging	Het
Pnpla1	T	A	17: 29,105,852 (GRCm39)	V569E	possibly damaging	Het
Prkar2a	A	T	9: 108,596,457 (GRCm39)	D134V	probably damaging	Het
Ptov1	T	A	7: 44,514,046 (GRCm39)	Q40L	possibly damaging	Het
Ptprq	T	C	10: 107,544,589 (GRCm39)	I314V	probably benign	Het
Rabl2	T	C	15: 89,468,169 (GRCm39)	K66E	probably damaging	Het
Rnf38	A	G	4: 44,152,507 (GRCm39)	V19A	possibly damaging	Het
Scn2a	T	A	2: 65,512,435 (GRCm39)	W191R	probably damaging	Het
Sec22b	T	A	3: 97,828,572 (GRCm39)	F212I	possibly damaging	Het
Sec24c	T	A	14: 20,738,783 (GRCm39)		probably null	Het
Septin2	T	C	1: 93,423,321 (GRCm39)	S51P	probably damaging	Het
Serpinb1a	T	C	13: 33,032,639 (GRCm39)	N90S	probably damaging	Het
Slc1a2	C	T	2: 102,574,208 (GRCm39)	T206I	probably benign	Het
Slc25a19	C	A	11: 115,515,032 (GRCm39)	R42L	probably damaging	Het
St14	G	A	9: 31,002,620 (GRCm39)		probably benign	Het
Stxbp1	C	T	2: 32,692,917 (GRCm39)		probably benign	Het
Tas2r131	C	T	6: 132,934,792 (GRCm39)	V6I	probably benign	Het
Tdo2	T	A	3: 81,871,307 (GRCm39)	M235L	probably benign	Het
Tenm3	T	G	8: 48,685,140 (GRCm39)	H2432P	probably damaging	Het
Tmprss15	C	T	16: 78,821,630 (GRCm39)		probably benign	Het
Tmx1	A	G	12: 70,500,030 (GRCm39)	N30D	probably benign	Het
Tom1	A	G	8: 75,791,020 (GRCm39)		probably null	Het
Top2a	T	C	11: 98,913,781 (GRCm39)	N20S	probably benign	Het
Ttc23l	T	A	15: 10,540,049 (GRCm39)	T145S	probably benign	Het
Unc13b	T	A	4: 43,236,983 (GRCm39)	M3351K	possibly damaging	Het
Vmn1r47	T	C	6: 89,999,641 (GRCm39)	S258P	probably damaging	Het
Vmn2r8	T	G	5: 108,945,317 (GRCm39)		probably null	Het
Vps11	T	C	9: 44,265,135 (GRCm39)	Q641R	probably null	Het
Wapl	T	A	14: 34,414,281 (GRCm39)	I381N	probably damaging	Het
Zmym6	G	A	4: 127,016,601 (GRCm39)	G794E	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
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
R1800:D130043K22Rik	UTSW	13	25,067,877 (GRCm39)	missense	probably damaging	1.00
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'- TCGTAGGTGGTGAGAGTTTATGCTCC -3'
(R):5'- CTAGGTGCCGAGCCAGGGA -3'

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

Posted On

2013-04-16