Mutagenetix > Incidental Mutation

Incidental Mutation 'R0833:D130043K22Rik'

77667

Institutional Source

Beutler Lab

Gene Symbol

D130043K22Rik

Ensembl Gene

ENSMUSG00000006711

Gene Name

RIKEN cDNA D130043K22 gene

Synonyms

Kiaa0319

MMRRC Submission

039012-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25029118-25085253 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 25047563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116004 (fasta)

Gene Model

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

AlphaFold

Q5SZV5

Predicted Effect

probably benign
Transcript: ENSMUST00000006893

SMART Domains

Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.6%

Validation Efficiency

100% (97/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,000,931 (GRCm39)	L41P	probably damaging	Het
3110082I17Rik	A	G	5: 139,349,875 (GRCm39)	V58A	possibly damaging	Het
4932415M13Rik	A	T	17: 54,031,374 (GRCm39)		noncoding transcript	Het
Aldh1a7	C	T	19: 20,679,607 (GRCm39)	V390M	probably damaging	Het
Alg14	A	G	3: 121,092,259 (GRCm39)	H34R	probably damaging	Het
Ankrd27	A	G	7: 35,307,772 (GRCm39)	N337S	probably damaging	Het
Apoa2	T	A	1: 171,052,948 (GRCm39)		probably benign	Het
Arl2	T	G	19: 6,186,052 (GRCm39)	K126T	probably damaging	Het
Ascc3	T	C	10: 50,721,762 (GRCm39)	W2072R	probably benign	Het
Astl	T	C	2: 127,184,339 (GRCm39)	F21L	probably benign	Het
Asxl3	A	G	18: 22,649,097 (GRCm39)	D362G	probably damaging	Het
Bdp1	A	T	13: 100,172,333 (GRCm39)	H2094Q	probably benign	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Ccdc85a	T	A	11: 28,533,296 (GRCm39)	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,730,131 (GRCm39)	M336K	probably benign	Het
Cd226	A	C	18: 89,225,144 (GRCm39)		probably benign	Het
Ceacam23	C	A	7: 17,638,906 (GRCm39)	A301E	possibly damaging	Het
Ces1f	A	T	8: 93,996,652 (GRCm39)	S214T	probably damaging	Het
Clip1	T	C	5: 123,768,784 (GRCm39)	D605G	probably benign	Het
Col26a1	A	G	5: 136,794,154 (GRCm39)		probably null	Het
Crtc1	A	G	8: 70,845,663 (GRCm39)	V306A	probably benign	Het
D17H6S53E	A	T	17: 35,346,385 (GRCm39)		probably null	Het
Dnah11	G	A	12: 118,160,397 (GRCm39)	A111V	probably benign	Het
Dyrk2	T	C	10: 118,697,027 (GRCm39)	H77R	probably benign	Het
Epha3	A	G	16: 63,423,882 (GRCm39)		probably benign	Het
Epn2	T	C	11: 61,410,317 (GRCm39)	N611S	probably benign	Het
Erich6	A	C	3: 58,526,365 (GRCm39)		probably benign	Het
Fam217b	T	C	2: 178,062,782 (GRCm39)	S249P	probably benign	Het
Fam219b	A	G	9: 57,445,299 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,246,424 (GRCm39)		probably benign	Het
Ftdc2	G	A	16: 58,455,886 (GRCm39)	S129L	probably damaging	Het
Gm14496	T	C	2: 181,638,059 (GRCm39)	W378R	probably damaging	Het
Gm57858	A	G	3: 36,074,362 (GRCm39)		probably benign	Het
Gm8674	A	T	13: 50,058,611 (GRCm39)		noncoding transcript	Het
Grap	T	A	11: 61,551,065 (GRCm39)	D32E	possibly damaging	Het
Grk2	C	A	19: 4,339,385 (GRCm39)	L428F	probably damaging	Het
Grm8	T	A	6: 27,363,178 (GRCm39)	E779V	probably damaging	Het
Hipk1	A	G	3: 103,661,612 (GRCm39)	S670P	probably damaging	Het
Ilrun	A	T	17: 28,005,112 (GRCm39)	S148R	probably damaging	Het
Itgae	A	T	11: 73,020,032 (GRCm39)	M845L	probably benign	Het
Itih1	A	T	14: 30,663,512 (GRCm39)	V164E	probably damaging	Het
Itpka	T	A	2: 119,581,312 (GRCm39)	N448K	probably damaging	Het
Jak3	A	C	8: 72,136,622 (GRCm39)	N643T	probably damaging	Het
Lrfn5	A	C	12: 61,886,454 (GRCm39)	T81P	probably damaging	Het
Lrrc45	T	A	11: 120,609,019 (GRCm39)		probably null	Het
Marchf6	T	C	15: 31,480,437 (GRCm39)	Y562C	probably benign	Het
Mcrs1	T	C	15: 99,141,330 (GRCm39)		probably benign	Het
Meis1	G	A	11: 18,831,767 (GRCm39)	H424Y	possibly damaging	Het
Mst1r	A	G	9: 107,791,975 (GRCm39)	N837S	probably benign	Het
Mst1r	G	A	9: 107,790,366 (GRCm39)	V660I	probably benign	Het
Mthfd2l	T	C	5: 91,094,801 (GRCm39)	V90A	probably damaging	Het
Mtnr1a	A	T	8: 45,540,974 (GRCm39)	I312F	probably benign	Het
Or10g3b	T	C	14: 52,586,835 (GRCm39)	I223V	probably benign	Het
Or51g1	C	A	7: 102,634,043 (GRCm39)	L109F	possibly damaging	Het
Or8b12b	T	C	9: 37,684,372 (GRCm39)	V139A	probably benign	Het
Otog	C	T	7: 45,918,786 (GRCm39)	T954I	possibly damaging	Het
Pdcd6	A	G	13: 74,464,443 (GRCm39)		probably benign	Het
Phlpp2	A	G	8: 110,663,738 (GRCm39)	T926A	probably damaging	Het
Plec	GGCAGCAG	GGCAGCAGCAG	15: 76,066,107 (GRCm39)		probably benign	Het
Plekha5	T	A	6: 140,535,360 (GRCm39)		probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Pramel18	G	A	4: 101,767,294 (GRCm39)	C181Y	probably damaging	Het
Pramel23	A	T	4: 143,425,056 (GRCm39)	M129K	probably benign	Het
Rab27b	T	C	18: 70,120,112 (GRCm39)		probably benign	Het
Rapsn	T	C	2: 90,867,153 (GRCm39)	Y152H	probably damaging	Het
Rasd1	A	T	11: 59,855,379 (GRCm39)	F85I	probably damaging	Het
Rgs1	A	T	1: 144,123,671 (GRCm39)	S85T	probably damaging	Het
Samd9l	T	C	6: 3,372,725 (GRCm39)	E1512G	possibly damaging	Het
Sgsm1	C	T	5: 113,427,050 (GRCm39)	A127T	probably benign	Het
Shc1	A	G	3: 89,330,276 (GRCm39)	D70G	probably damaging	Het
Slc26a1	T	A	5: 108,821,389 (GRCm39)	T167S	probably benign	Het
Slc26a7	A	T	4: 14,593,873 (GRCm39)	Y81N	probably damaging	Het
Slc2a12	T	C	10: 22,577,915 (GRCm39)		probably benign	Het
Slc30a7	T	A	3: 115,783,789 (GRCm39)		probably null	Het
Slc44a5	T	C	3: 153,971,111 (GRCm39)	S654P	probably damaging	Het
Stard9	T	G	2: 120,527,480 (GRCm39)	S1246A	possibly damaging	Het
Stxbp5	A	T	10: 9,740,843 (GRCm39)	S116R	probably damaging	Het
Syvn1	C	T	19: 6,102,483 (GRCm39)	P517L	probably benign	Het
Tas2r105	T	C	6: 131,664,393 (GRCm39)	I12V	probably benign	Het
Tas2r121	A	G	6: 132,677,325 (GRCm39)	S216P	probably damaging	Het
Tcof1	T	C	18: 60,978,904 (GRCm39)	D48G	probably damaging	Het
Tgm3	C	T	2: 129,868,602 (GRCm39)		probably benign	Het
Tle2	T	C	10: 81,424,781 (GRCm39)	F667L	probably damaging	Het
Tnfaip3	C	A	10: 18,878,697 (GRCm39)	A704S	probably benign	Het
Trabd2b	A	G	4: 114,437,519 (GRCm39)	Q232R	probably benign	Het
Ttc28	T	A	5: 111,378,947 (GRCm39)	I1144N	probably damaging	Het
Ucp3	T	A	7: 100,128,748 (GRCm39)	C25*	probably null	Het
Ugt3a1	A	G	15: 9,370,236 (GRCm39)	D460G	probably damaging	Het
Urb1	T	C	16: 90,592,336 (GRCm39)	D308G	possibly damaging	Het
Ush1g	G	T	11: 115,209,694 (GRCm39)	R167S	possibly damaging	Het
Vav3	A	G	3: 109,554,995 (GRCm39)	N81S	possibly damaging	Het
Vmn2r108	A	T	17: 20,691,721 (GRCm39)	D267E	probably benign	Het
Zng1	A	G	19: 24,918,203 (GRCm39)		probably benign	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
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'- AATCAGGTGTTGGCAAGAGCCC -3'
(R):5'- CAGCCAAGACTTTGCTCACTGGAG -3'

Sequencing Primer
(F):5'- TCAAATGCTAATAGTAAAGTTGGGG -3'
(R):5'- AGTCTGAGCTGTGCAACCTG -3'

Posted On

2013-10-16