Mutagenetix > Incidental Mutation

Incidental Mutation 'R6436:D130043K22Rik'

518783

Institutional Source

Beutler Lab

Gene Symbol

D130043K22Rik

Ensembl Gene

ENSMUSG00000006711

Gene Name

RIKEN cDNA D130043K22 gene

Synonyms

Kiaa0319

MMRRC Submission

044574-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6436 (G1)

Quality Score

117.008

Status

Validated

Chromosome

Chromosomal Location

25029118-25085253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25061918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 629 (E629G)

Ref Sequence

ENSEMBL: ENSMUSP00000116004 (fasta)

Gene Model

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

AlphaFold

Q5SZV5

Predicted Effect

probably damaging
Transcript: ENSMUST00000006893
AA Change: E629G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711
AA Change: E629G

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 damaging
Transcript: ENSMUST00000141572
AA Change: E629G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116004
Gene: ENSMUSG00000006711
AA Change: E629G

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: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.5%

Validation Efficiency

100% (33/33)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arc	C	A	15: 74,544,098 (GRCm39)	V42L	possibly damaging	Het
Clip1	C	T	5: 123,779,848 (GRCm39)	E433K	probably damaging	Het
Cmya5	T	C	13: 93,225,723 (GRCm39)	T3122A	probably damaging	Het
Ctf2	G	T	7: 127,318,603 (GRCm39)	A92E	probably damaging	Het
Ctsw	G	T	19: 5,516,322 (GRCm39)	R184S	possibly damaging	Het
Dmbt1	T	C	7: 130,718,370 (GRCm39)	V1523A	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fanci	T	C	7: 79,090,446 (GRCm39)	I982T	probably benign	Het
Fnbp1	T	C	2: 30,986,139 (GRCm39)	D3G	probably damaging	Het
Gm10770	G	A	2: 150,020,830 (GRCm39)	T229I	probably benign	Het
Gm35315	G	A	5: 110,226,578 (GRCm39)	T287I	probably benign	Het
Itgb3	T	A	11: 104,524,318 (GRCm39)	D151E	probably damaging	Het
Lcn8	A	T	2: 25,544,990 (GRCm39)		probably null	Het
Ninl	A	G	2: 150,808,098 (GRCm39)	L310P	probably damaging	Het
Nop2	A	G	6: 125,114,274 (GRCm39)	D215G	probably benign	Het
Or4d10c	T	C	19: 12,065,299 (GRCm39)	T286A	probably benign	Het
Or6c3	A	G	10: 129,308,773 (GRCm39)	T71A	probably damaging	Het
Parg	T	C	14: 31,993,634 (GRCm39)	W289R	probably damaging	Het
Pdcd4	A	G	19: 53,915,362 (GRCm39)		probably null	Het
Plk2	G	T	13: 110,532,570 (GRCm39)	E95*	probably null	Het
Pold1	G	A	7: 44,188,202 (GRCm39)	R559C	probably damaging	Het
Ptprc	T	C	1: 138,011,377 (GRCm39)	D560G	possibly damaging	Het
Rasal3	T	C	17: 32,616,478 (GRCm39)	Y290C	probably damaging	Het
Rcsd1	T	A	1: 165,485,184 (GRCm39)	S90C	probably damaging	Het
Rttn	T	C	18: 89,128,853 (GRCm39)	L1935P	probably damaging	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Homo
Tmc3	T	C	7: 83,247,695 (GRCm39)	Y230H	probably damaging	Het
Tnfrsf25	A	T	4: 152,204,084 (GRCm39)		probably null	Het
Ubl7	T	C	9: 57,827,793 (GRCm39)	L160P	probably damaging	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Zfp646	T	A	7: 127,479,113 (GRCm39)	V430E	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
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
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'- TGCCAGTGCTAATGGCTGTG -3'
(R):5'- GCTGTTTAATGCAATCCTCCAG -3'

Sequencing Primer
(F):5'- GAATTGAACCCAGGTCCTCTG -3'
(R):5'- GGTGCTGTCGGTCATCAC -3'

Posted On

2018-05-24