Mutagenetix > Incidental Mutation

Incidental Mutation 'R8778:A430033K04Rik'

670114

Institutional Source

Beutler Lab

Gene Symbol

A430033K04Rik

Ensembl Gene

ENSMUSG00000056014

Gene Name

RIKEN cDNA A430033K04 gene

Synonyms

MMRRC Submission

068603-MU

Accession Numbers

Essential gene?

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

Stock #

R8778 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138621121-138647179 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138645149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 345 (C345S)

Ref Sequence

ENSEMBL: ENSMUSP00000067316 (fasta)

Gene Model

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

AlphaFold

E9Q8G5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069862
AA Change: C345S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000067316
Gene: ENSMUSG00000056014
AA Change: C345S

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 damaging
Transcript: ENSMUST00000198958
AA Change: C345S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000142904
Gene: ENSMUSG00000056014
AA Change: C345S

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: 99.8%
20x: 99.3%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	A	G	14: 103,292,918 (GRCm39)	T481A	probably benign	Het
Adamtsl1	T	C	4: 85,432,687 (GRCm39)	V5A	probably benign	Het
Ahnak2	T	A	12: 112,783,158 (GRCm38)	Q1023L		Het
Akt1	C	T	12: 112,625,102 (GRCm39)	E149K	probably benign	Het
Arhgap10	T	C	8: 78,140,240 (GRCm39)	E240G	probably damaging	Het
Asap1	G	A	15: 63,999,258 (GRCm39)	P516S	probably benign	Het
Ccdc88c	T	C	12: 100,911,483 (GRCm39)	R784G	probably benign	Het
Cep290	T	A	10: 100,350,374 (GRCm39)	L656*	probably null	Het
Chd2	A	C	7: 73,079,483 (GRCm39)	S1806A	possibly damaging	Het
Cyp4f15	G	T	17: 32,921,378 (GRCm39)	A475S	probably damaging	Het
Dnah12	A	G	14: 26,455,718 (GRCm39)	T814A	probably benign	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Eif4g1	G	A	16: 20,492,196 (GRCm39)		probably benign	Het
Entpd8	G	A	2: 24,971,858 (GRCm39)	V9I	probably benign	Het
Frmd4a	C	T	2: 4,478,026 (GRCm39)	T65M	probably damaging	Het
Gabrr2	T	C	4: 33,095,517 (GRCm39)	Y469H	probably damaging	Het
Gjd3	T	C	11: 98,873,842 (GRCm39)	M1V	probably null	Het
Golga7	T	C	8: 23,735,944 (GRCm39)	N101D	possibly damaging	Het
Hebp1	A	G	6: 135,145,068 (GRCm39)	F10L	probably benign	Het
Hs3st3a1	T	A	11: 64,327,251 (GRCm39)	V120E	probably benign	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Iho1	A	G	9: 108,282,807 (GRCm39)	S294P	probably damaging	Het
Inhbc	A	G	10: 127,193,693 (GRCm39)	S108P	probably damaging	Het
Itgbl1	T	A	14: 124,078,075 (GRCm39)	D188E	probably benign	Het
Lmo7	T	G	14: 102,149,503 (GRCm39)	S1091A	probably damaging	Het
Lmo7	T	C	14: 102,156,655 (GRCm39)	V1275A	probably benign	Het
Lrrc25	T	G	8: 71,070,242 (GRCm39)	L8V	possibly damaging	Het
Lyst	T	C	13: 13,810,361 (GRCm39)	I677T	possibly damaging	Het
Lyst	A	G	13: 13,903,152 (GRCm39)	N3174S	possibly damaging	Het
Mgst3	C	T	1: 167,203,032 (GRCm39)	V80I	probably benign	Het
Mtmr12	A	G	15: 12,270,006 (GRCm39)	N698S	probably benign	Het
Myo18a	A	G	11: 77,714,150 (GRCm39)	Y748C	probably damaging	Het
Myoz2	T	C	3: 122,800,156 (GRCm39)	N224S	possibly damaging	Het
Nebl	T	C	2: 17,409,078 (GRCm39)	Y340C	probably damaging	Het
Or10h28	T	C	17: 33,488,420 (GRCm39)	S241P	probably damaging	Het
Pcdha9	G	T	18: 37,132,244 (GRCm39)	V438L	possibly damaging	Het
Pramel13	T	C	4: 144,119,466 (GRCm39)	D367G	probably damaging	Het
Semp2l2b	T	A	10: 21,943,356 (GRCm39)	E208V	probably damaging	Het
Sfrp2	T	G	3: 83,674,093 (GRCm39)	L82R	probably damaging	Het
Spata7	T	A	12: 98,624,815 (GRCm39)	L239Q	probably damaging	Het
Syncrip	A	T	9: 88,338,294 (GRCm39)	I590N	unknown	Het
Syne1	T	C	10: 5,309,066 (GRCm39)	T648A	probably benign	Het
Tmc5	A	G	7: 118,222,816 (GRCm39)	Y172C	unknown	Het
Trim30a	A	T	7: 104,060,772 (GRCm39)	Y335N	probably benign	Het
Trmt10c	A	G	16: 55,855,372 (GRCm39)	S88P	probably benign	Het
Trpc3	T	C	3: 36,725,070 (GRCm39)	E302G	probably damaging	Het
Ttn	T	C	2: 76,591,580 (GRCm39)	T21030A	possibly damaging	Het
Uba6	G	T	5: 86,260,556 (GRCm39)	P1039T	possibly damaging	Het
Vmn2r75	A	T	7: 85,813,497 (GRCm39)	I435N	probably benign	Het
Zfp1008	T	C	13: 62,753,169 (GRCm39)	K73E	possibly damaging	Het
Zkscan5	T	C	5: 145,155,142 (GRCm39)	V271A	probably benign	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
R8496:A430033K04Rik	UTSW	5	138,645,120 (GRCm39)	missense	probably benign	0.00
R8520:A430033K04Rik	UTSW	5	138,644,968 (GRCm39)	missense	possibly damaging	0.72
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'- ATGACGCTATGCACACTGGAG -3'
(R):5'- TGGAAAGCCTTGCTGCATG -3'

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

Posted On

2021-04-30