Mutagenetix > Incidental Mutation

Incidental Mutation 'R8496:A430033K04Rik'

658267

Institutional Source

Beutler Lab

Gene Symbol

A430033K04Rik

Ensembl Gene

ENSMUSG00000056014

Gene Name

RIKEN cDNA A430033K04 gene

Synonyms

MMRRC Submission

067938-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R8496 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138621121-138647179 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138645120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 335 (E335G)

Ref Sequence

ENSEMBL: ENSMUSP00000067316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069862] [ENSMUST00000198958]

AlphaFold

E9Q8G5

Predicted Effect

probably benign
Transcript: ENSMUST00000069862
AA Change: E335G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000067316
Gene: ENSMUSG00000056014
AA Change: E335G

Domain	Start	End	E-Value	Type
KRAB	16	76	6.23e-34	SMART
ZnF_C2H2	261	280	1.01e2	SMART
ZnF_C2H2	455	477	1.47e-3	SMART
ZnF_C2H2	483	505	4.05e-1	SMART
ZnF_C2H2	511	533	5.5e-3	SMART
ZnF_C2H2	539	561	7.26e-3	SMART
ZnF_C2H2	567	589	5.14e-3	SMART
ZnF_C2H2	595	617	3.63e-3	SMART
ZnF_C2H2	623	645	1.92e-2	SMART
ZnF_C2H2	651	673	2.12e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198958
AA Change: E335G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142904
Gene: ENSMUSG00000056014
AA Change: E335G

Domain	Start	End	E-Value	Type
KRAB	16	76	2.7e-36	SMART
ZnF_C2H2	261	280	4.2e-1	SMART
ZnF_C2H2	455	477	6.4e-6	SMART
ZnF_C2H2	483	505	1.8e-3	SMART
ZnF_C2H2	511	533	2.3e-5	SMART
ZnF_C2H2	539	561	3e-5	SMART
ZnF_C2H2	567	589	2.1e-5	SMART
ZnF_C2H2	595	617	1.5e-5	SMART
ZnF_C2H2	623	643	2.7e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afp	C	T	5: 90,639,572 (GRCm39)	S34F	probably damaging	Het
Ano6	T	A	15: 95,847,807 (GRCm39)	I639N	probably damaging	Het
Atp13a1	T	G	8: 70,250,618 (GRCm39)	V411G	probably damaging	Het
Cadm2	A	T	16: 66,461,309 (GRCm39)	C383S	probably damaging	Het
Capn2	T	C	1: 182,304,840 (GRCm39)	I556V	probably benign	Het
Cd34	A	G	1: 194,642,089 (GRCm39)	E322G	probably benign	Het
Cel	T	C	2: 28,446,200 (GRCm39)	D557G	probably benign	Het
Cemip	T	C	7: 83,600,634 (GRCm39)	I996V	probably benign	Het
Clca3a1	A	T	3: 144,453,182 (GRCm39)	*514R	probably null	Het
Cry2	C	G	2: 92,257,284 (GRCm39)	R95P	probably damaging	Het
Ctse	T	A	1: 131,592,118 (GRCm39)	I148N	probably damaging	Het
Cyp4f13	G	C	17: 33,143,833 (GRCm39)	P497R	probably damaging	Het
Dsn1	C	T	2: 156,839,640 (GRCm39)	V254M	probably benign	Het
Fcgbpl1	A	G	7: 27,843,377 (GRCm39)	D755G	possibly damaging	Het
Gm4847	T	A	1: 166,469,761 (GRCm39)	H104L	possibly damaging	Het
Gpr88	T	C	3: 116,046,117 (GRCm39)	T65A	possibly damaging	Het
Gtse1	A	G	15: 85,746,283 (GRCm39)	D33G	probably damaging	Het
Ints6	A	G	14: 62,943,325 (GRCm39)	Y455H	probably benign	Het
Kctd1	A	T	18: 15,107,228 (GRCm39)	C150S	probably damaging	Het
Kctd11	T	G	11: 69,770,877 (GRCm39)	T54P	probably damaging	Het
Kif1b	C	A	4: 149,277,068 (GRCm39)	G56*	probably null	Het
Kifap3	T	A	1: 163,656,866 (GRCm39)		probably null	Het
Naip5	G	T	13: 100,349,247 (GRCm39)	H1360Q	probably benign	Het
Ncapd2	T	C	6: 125,147,127 (GRCm39)	E1198G	probably damaging	Het
Nova1	T	A	12: 46,760,325 (GRCm39)	K90*	probably null	Het
Odc1	T	A	12: 17,598,396 (GRCm39)	L179H	probably damaging	Het
Or10w1	T	A	19: 13,632,388 (GRCm39)	H193Q	probably damaging	Het
Or1ad8	T	C	11: 50,897,877 (GRCm39)	V26A	probably benign	Het
Or1s2	A	G	19: 13,758,384 (GRCm39)	N136S	probably benign	Het
Palm	C	T	10: 79,642,485 (GRCm39)	T6I	probably benign	Het
Parp10	T	A	15: 76,117,749 (GRCm39)	D879V	probably damaging	Het
Phf2	A	G	13: 48,971,181 (GRCm39)	V497A	unknown	Het
Pparg	A	G	6: 115,440,112 (GRCm39)	I199V	probably benign	Het
Ppm1b	T	A	17: 85,301,660 (GRCm39)	I180N	probably damaging	Het
Prdx5	A	T	19: 6,885,542 (GRCm39)	C37*	probably null	Het
Ptprz1	A	T	6: 22,972,797 (GRCm39)	T236S	probably damaging	Het
Rab5b	G	A	10: 128,518,776 (GRCm39)	Q119*	probably null	Het
Rdh19	T	A	10: 127,695,469 (GRCm39)	W228R	probably damaging	Het
Schip1	G	T	3: 68,401,946 (GRCm39)	G36C	probably damaging	Het
Secisbp2	T	C	13: 51,819,383 (GRCm39)	V321A	probably damaging	Het
Slc6a5	T	A	7: 49,585,960 (GRCm39)	V426D	probably damaging	Het
Syne1	T	A	10: 5,178,896 (GRCm39)	E4526V	probably damaging	Het
Syne1	T	C	10: 5,268,441 (GRCm39)	K2083E	probably damaging	Het
Tecta	T	A	9: 42,241,547 (GRCm39)	I2143F	probably benign	Het
Tfap4	T	C	16: 4,369,170 (GRCm39)	D90G	probably damaging	Het
Ttll12	T	C	15: 83,462,010 (GRCm39)	Y569C	probably damaging	Het
Zfp326	T	G	5: 106,036,451 (GRCm39)	S121A	probably damaging	Het

Other mutations in A430033K04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:A430033K04Rik	APN	5	138,645,854 (GRCm39)	missense	probably damaging	1.00
IGL00336:A430033K04Rik	APN	5	138,645,366 (GRCm39)	missense	probably damaging	0.99
IGL02615:A430033K04Rik	APN	5	138,644,402 (GRCm39)	nonsense	probably null
IGL03354:A430033K04Rik	APN	5	138,645,041 (GRCm39)	missense	possibly damaging	0.85
R0172:A430033K04Rik	UTSW	5	138,645,578 (GRCm39)	missense	probably damaging	0.99
R1769:A430033K04Rik	UTSW	5	138,644,519 (GRCm39)	missense	probably benign	0.04
R4515:A430033K04Rik	UTSW	5	138,646,006 (GRCm39)	missense	probably damaging	1.00
R4903:A430033K04Rik	UTSW	5	138,645,119 (GRCm39)	nonsense	probably null
R4964:A430033K04Rik	UTSW	5	138,645,119 (GRCm39)	nonsense	probably null
R5389:A430033K04Rik	UTSW	5	138,644,559 (GRCm39)	missense	probably benign	0.02
R5769:A430033K04Rik	UTSW	5	138,644,595 (GRCm39)	missense	possibly damaging	0.86
R6128:A430033K04Rik	UTSW	5	138,646,038 (GRCm39)	missense	probably damaging	1.00
R6399:A430033K04Rik	UTSW	5	138,645,821 (GRCm39)	missense	probably damaging	1.00
R6444:A430033K04Rik	UTSW	5	138,637,831 (GRCm39)	small deletion	probably benign
R6600:A430033K04Rik	UTSW	5	138,645,710 (GRCm39)	frame shift	probably null
R6774:A430033K04Rik	UTSW	5	138,644,712 (GRCm39)	missense	probably benign
R7098:A430033K04Rik	UTSW	5	138,644,784 (GRCm39)	missense	probably benign
R7217:A430033K04Rik	UTSW	5	138,645,188 (GRCm39)	missense	probably benign
R7269:A430033K04Rik	UTSW	5	138,645,014 (GRCm39)	missense	possibly damaging	0.86
R7429:A430033K04Rik	UTSW	5	138,634,445 (GRCm39)	missense	possibly damaging	0.92
R7442:A430033K04Rik	UTSW	5	138,645,509 (GRCm39)	missense	possibly damaging	0.55
R7718:A430033K04Rik	UTSW	5	138,646,122 (GRCm39)	missense	possibly damaging	0.73
R8007:A430033K04Rik	UTSW	5	138,644,901 (GRCm39)	missense	probably benign	0.33
R8170:A430033K04Rik	UTSW	5	138,645,315 (GRCm39)	missense	possibly damaging	0.72
R8348:A430033K04Rik	UTSW	5	138,634,514 (GRCm39)	missense	probably damaging	1.00
R8520:A430033K04Rik	UTSW	5	138,644,968 (GRCm39)	missense	possibly damaging	0.72
R8778:A430033K04Rik	UTSW	5	138,645,149 (GRCm39)	missense	possibly damaging	0.53
R8858:A430033K04Rik	UTSW	5	138,638,338 (GRCm39)	missense	probably benign	0.01
R9147:A430033K04Rik	UTSW	5	138,644,547 (GRCm39)	missense	possibly damaging	0.86
R9148:A430033K04Rik	UTSW	5	138,644,547 (GRCm39)	missense	possibly damaging	0.86
R9418:A430033K04Rik	UTSW	5	138,645,317 (GRCm39)	missense	probably damaging	1.00
R9645:A430033K04Rik	UTSW	5	138,644,793 (GRCm39)	missense	probably benign	0.33
R9661:A430033K04Rik	UTSW	5	138,645,451 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- TGACGCTATGCACACTGGAG -3'
(R):5'- GTGGAAAGCCTTGCTGCATG -3'

Sequencing Primer
(F):5'- CGCTATGCACACTGGAGAGAATG -3'
(R):5'- ACAGGCCTTCTCCTCTGTACAAAG -3'

Posted On

2021-01-18