Mutagenetix > Incidental Mutation

Incidental Mutation 'R5389:A430033K04Rik'

425466

Institutional Source

Beutler Lab

Gene Symbol

A430033K04Rik

Ensembl Gene

ENSMUSG00000056014

Gene Name

RIKEN cDNA A430033K04 gene

Synonyms

MMRRC Submission

042961-MU

Accession Numbers

Essential gene?

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

Stock #

R5389 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138621121-138647179 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138644559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 148 (V148E)

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: V148E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000067316
Gene: ENSMUSG00000056014
AA Change: V148E

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: V148E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142904
Gene: ENSMUSG00000056014
AA Change: V148E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,638,795 (GRCm39)	V398A	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Ankrd26	T	A	6: 118,485,536 (GRCm39)	Q1446L	possibly damaging	Het
Anks6	A	T	4: 47,038,900 (GRCm39)		probably benign	Het
Arrb2	T	C	11: 70,329,484 (GRCm39)	S265P	probably damaging	Het
Baiap2	T	C	11: 119,887,496 (GRCm39)	S264P	probably damaging	Het
Cadps2	A	G	6: 23,329,103 (GRCm39)	V938A	probably damaging	Het
Cavin4	G	T	4: 48,663,907 (GRCm39)	V96F	probably damaging	Het
Cenpe	T	C	3: 134,965,149 (GRCm39)		probably null	Het
Crocc2	C	A	1: 93,143,363 (GRCm39)	Q1322K	probably benign	Het
Cryzl2	T	A	1: 157,289,546 (GRCm39)	C61*	probably null	Het
Dazl	T	C	17: 50,595,718 (GRCm39)	I56V	probably benign	Het
Dnah12	A	T	14: 26,456,904 (GRCm39)	D890V	probably damaging	Het
Dnah9	C	A	11: 65,986,140 (GRCm39)	E1165*	probably null	Het
Dnmt3l	T	A	10: 77,892,665 (GRCm39)		probably null	Het
Elp2	A	G	18: 24,739,960 (GRCm39)	N62S	possibly damaging	Het
Entr1	T	C	2: 26,275,559 (GRCm39)	D244G	probably damaging	Het
Fam216b	T	A	14: 78,322,503 (GRCm39)	H26L	possibly damaging	Het
Fbxw25	T	A	9: 109,481,954 (GRCm39)	Q244L	possibly damaging	Het
G530012D18Rik	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Gvin3	T	C	7: 106,197,442 (GRCm39)		noncoding transcript	Het
Igf2r	T	C	17: 12,944,303 (GRCm39)	Y400C	probably damaging	Het
Iqcc	A	G	4: 129,512,413 (GRCm39)	F20L	probably benign	Het
Klhl5	T	A	5: 65,298,625 (GRCm39)	L135M	possibly damaging	Het
Klk1b16	A	T	7: 43,790,412 (GRCm39)	M196L	possibly damaging	Het
Ltf	T	C	9: 110,858,719 (GRCm39)	M489T	possibly damaging	Het
Mctp2	G	T	7: 71,863,835 (GRCm39)	R343S	possibly damaging	Het
Nbas	T	A	12: 13,584,578 (GRCm39)		probably null	Het
Ncr1	A	T	7: 4,343,932 (GRCm39)	M177L	probably benign	Het
Net1	C	T	13: 3,936,170 (GRCm39)	E305K	probably damaging	Het
Nfx1	T	C	4: 40,985,000 (GRCm39)	F375L	probably damaging	Het
Notch3	T	A	17: 32,358,163 (GRCm39)	I1687L	probably benign	Het
Obsl1	A	T	1: 75,479,905 (GRCm39)		probably benign	Het
Or2ag16	A	T	7: 106,352,290 (GRCm39)	F102I	probably damaging	Het
Or2t46	C	G	11: 58,471,825 (GRCm39)	L52V	possibly damaging	Het
Or51v14	G	T	7: 103,260,797 (GRCm39)	Y254*	probably null	Het
Or5g23	A	G	2: 85,438,627 (GRCm39)	F209S	probably benign	Het
Or5j3	G	A	2: 86,128,561 (GRCm39)	V134M	possibly damaging	Het
Or5p79	A	C	7: 108,221,924 (GRCm39)	I302L	probably damaging	Het
Orai1	A	T	5: 123,167,564 (GRCm39)	M246L	probably benign	Het
Pcdhga12	G	A	18: 37,899,785 (GRCm39)	A206T	probably damaging	Het
Plxdc2	C	A	2: 16,654,998 (GRCm39)	T199K	probably damaging	Het
Prkd1	T	A	12: 50,389,920 (GRCm39)	I819F	probably damaging	Het
Ptpn9	T	C	9: 56,964,121 (GRCm39)		probably benign	Het
Rabl6	T	C	2: 25,478,666 (GRCm39)	E255G	probably damaging	Het
Sema3e	T	C	5: 14,286,099 (GRCm39)		probably benign	Het
Serpina3c	T	C	12: 104,115,699 (GRCm39)	M282V	possibly damaging	Het
Slco1a7	A	G	6: 141,686,193 (GRCm39)	F216L	probably benign	Het
Slco2b1	A	G	7: 99,335,132 (GRCm39)	I216T	probably damaging	Het
Slco6b1	T	C	1: 96,916,309 (GRCm39)		noncoding transcript	Het
Slco6d1	A	T	1: 98,371,369 (GRCm39)	I285F	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Sp9	C	A	2: 73,104,641 (GRCm39)	N398K	probably damaging	Het
Sycp2	A	C	2: 178,019,495 (GRCm39)		probably null	Het
Tbc1d23	T	C	16: 57,019,291 (GRCm39)	D219G	probably damaging	Het
Tdpoz3	A	G	3: 93,734,179 (GRCm39)	R285G	probably benign	Het
Trim2	T	A	3: 84,074,960 (GRCm39)	Q694L	probably null	Het
Trim23	T	A	13: 104,328,541 (GRCm39)	V293D	probably damaging	Het
Ttn	A	G	2: 76,665,183 (GRCm39)		probably benign	Het
Vmn2r12	T	A	5: 109,238,261 (GRCm39)	Y493F	probably benign	Het
Vps41	T	A	13: 19,046,708 (GRCm39)	I753N	probably damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Yme1l1	G	A	2: 23,083,246 (GRCm39)	G571R	probably damaging	Het
Zfp322a	A	T	13: 23,541,149 (GRCm39)	C198S	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
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
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'- AAATGGAGTGCCCCAGTTG -3'
(R):5'- ATGTCCTAGAGGTTTCCTGAAC -3'

Sequencing Primer
(F):5'- GTGCCCCAGTTGAAAAAGGCC -3'
(R):5'- AGGCTTCATCTGGTCCAAAG -3'

Posted On

2016-08-04