Mutagenetix > Incidental Mutation

Incidental Mutation 'R7506:4933430I17Rik'

581779

Institutional Source

Beutler Lab

Gene Symbol

4933430I17Rik

Ensembl Gene

ENSMUSG00000058046

Gene Name

RIKEN cDNA 4933430I17 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7506 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62525369-62547993 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62532261 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 24 (V24A)

Ref Sequence

ENSEMBL: ENSMUSP00000050465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062145]

AlphaFold

Q8BHW4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062145
AA Change: V24A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000050465
Gene: ENSMUSG00000058046
AA Change: V24A

Domain	Start	End	E-Value	Type
Pfam:DUF4647	22	481	7.3e-182	PFAM

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	C	T	9: 15,297,906	V31I	probably benign	Het
Adamtsl3	A	T	7: 82,514,978	R334W	probably damaging	Het
Aox1	G	A	1: 58,049,403	C116Y	probably damaging	Het
B3gntl1	A	T	11: 121,670,914	I74N	probably damaging	Het
Bicra	C	T	7: 15,988,213	V460M	possibly damaging	Het
Ccdc18	G	A	5: 108,163,739	C437Y	possibly damaging	Het
Cdh6	A	G	15: 13,034,310	S755P	probably damaging	Het
Crtc2	G	T	3: 90,259,212	A165S	probably damaging	Het
Cwf19l2	C	T	9: 3,456,775	H703Y	probably damaging	Het
Cyc1	C	A	15: 76,343,685	T41K	probably benign	Het
Defb28	A	T	2: 152,518,301	H12L	possibly damaging	Het
Dsg3	T	A	18: 20,533,464	C577S	probably benign	Het
Ggt6	G	T	11: 72,437,898	C408F	possibly damaging	Het
Gm3278	T	A	14: 4,893,441	Y97N	probably damaging	Het
Gpr155	A	G	2: 73,368,339	L412P	probably damaging	Het
Gucd1	T	C	10: 75,511,185	H77R	probably benign	Het
Hat1	T	A	2: 71,420,347	I158N	probably damaging	Het
Hhla1	C	T	15: 65,936,382	W271*	probably null	Het
Hist1h2bg	G	A	13: 23,571,484	A18T	unknown	Het
Igsf10	T	A	3: 59,319,354	L2299F	probably damaging	Het
Iqsec1	G	T	6: 90,662,806	H983Q	possibly damaging	Het
Iqsec1	A	G	6: 90,667,909	S914P	probably damaging	Het
Irx2	G	T	13: 72,629,209	G50C	probably damaging	Het
Kif26b	T	C	1: 178,529,499		probably benign	Het
Lmo7	A	G	14: 101,919,609	E1405G	unknown	Het
Mdm2	T	C	10: 117,690,691	D330G	possibly damaging	Het
Mgat5	A	C	1: 127,366,455	D178A	probably benign	Het
Mier2	C	A	10: 79,550,342	R25L	probably benign	Het
Mlip	T	C	9: 77,164,803	K257E	probably damaging	Het
Mtfr2	T	C	10: 20,353,385	S80P	probably benign	Het
Ndst2	A	G	14: 20,730,085	V29A	probably benign	Het
Negr1	T	G	3: 157,069,233	Y195*	probably null	Het
Nptn	T	C	9: 58,618,873	L101P	probably damaging	Het
Nrip1	G	A	16: 76,294,459	T70I	probably damaging	Het
Nrtn	C	T	17: 56,751,633	V123M	probably damaging	Het
Olfr59	A	T	11: 74,289,123	H159L	possibly damaging	Het
Onecut1	T	A	9: 74,863,240	F315Y	possibly damaging	Het
P4htm	A	G	9: 108,583,679	L198S	probably damaging	Het
Pappa	A	C	4: 65,231,182	I920L	probably benign	Het
Pcdhgb5	A	C	18: 37,732,472	D440A	probably damaging	Het
Ppard	A	T	17: 28,298,761	N268Y	possibly damaging	Het
Rapgef6	T	A	11: 54,636,171	S563T	probably benign	Het
Rtn3	T	A	19: 7,429,753	E949D	probably benign	Het
Sf3a1	T	C	11: 4,177,561	M629T	probably benign	Het
Slc39a8	T	C	3: 135,884,306	I319T	probably benign	Het
Sorcs1	C	T	19: 50,182,674	W925*	probably null	Het
Spag9	G	A	11: 94,108,464	D1069N	probably damaging	Het
Taar7a	A	G	10: 23,992,994	V163A	possibly damaging	Het
Tmem150a	G	A	6: 72,356,770		probably null	Het
Tnxb	G	A	17: 34,715,691	V2425I	possibly damaging	Het
Tppp2	A	G	14: 51,920,601	K168E	possibly damaging	Het
Ttn	T	A	2: 76,889,468	D7099V	unknown	Het
Vmn1r41	A	T	6: 89,747,177	R50*	probably null	Het
Vmn1r60	T	C	7: 5,544,862	K80E		Het
Vmn2r18	A	G	5: 151,585,020	F213S	possibly damaging	Het
Vmn2r26	G	A	6: 124,039,741	S388N	probably benign	Het
Vmn2r63	A	T	7: 42,926,967	F474Y	probably damaging	Het
Zc3hav1	G	A	6: 38,332,940	R316*	probably null	Het
Zfp654	A	T	16: 64,791,848	I225N	probably damaging	Het
Zfp97	A	G	17: 17,145,280	E347G	probably damaging	Het

Other mutations in 4933430I17Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:4933430I17Rik	APN	4	62532666	splice site	probably benign
IGL00326:4933430I17Rik	APN	4	62543744	splice site	probably null
IGL01526:4933430I17Rik	APN	4	62532621	missense	possibly damaging	0.71
IGL02152:4933430I17Rik	APN	4	62542754	missense	possibly damaging	0.93
IGL03153:4933430I17Rik	APN	4	62547326	missense	possibly damaging	0.85
R0281:4933430I17Rik	UTSW	4	62546067	nonsense	probably null
R0436:4933430I17Rik	UTSW	4	62543445	splice site	probably benign
R1459:4933430I17Rik	UTSW	4	62532341	missense	probably damaging	0.99
R1807:4933430I17Rik	UTSW	4	62542756	nonsense	probably null
R1930:4933430I17Rik	UTSW	4	62532282	missense	possibly damaging	0.83
R1958:4933430I17Rik	UTSW	4	62538909	missense	probably benign	0.09
R2118:4933430I17Rik	UTSW	4	62538872	missense	possibly damaging	0.93
R2119:4933430I17Rik	UTSW	4	62538872	missense	possibly damaging	0.93
R2124:4933430I17Rik	UTSW	4	62538872	missense	possibly damaging	0.93
R4323:4933430I17Rik	UTSW	4	62547311	missense	probably damaging	0.98
R4592:4933430I17Rik	UTSW	4	62538927	missense	possibly damaging	0.93
R5708:4933430I17Rik	UTSW	4	62525869	missense	probably benign	0.01
R6576:4933430I17Rik	UTSW	4	62532605	missense	possibly damaging	0.71
R7953:4933430I17Rik	UTSW	4	62532659	missense	probably null	0.71
R8329:4933430I17Rik	UTSW	4	62543741	critical splice donor site	probably null
R8348:4933430I17Rik	UTSW	4	62542785	critical splice donor site	probably null
R8448:4933430I17Rik	UTSW	4	62542785	critical splice donor site	probably null
R8699:4933430I17Rik	UTSW	4	62532278	missense	probably damaging	0.98
R9516:4933430I17Rik	UTSW	4	62542679	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCATTTGAGCTCATGGTACC -3'
(R):5'- AACCTGCTGCTTGGAGAAAAG -3'

Sequencing Primer
(F):5'- GAGCTCATGGTACCTTTATTTGTTTC -3'
(R):5'- CCTGCTGCTTGGAGAAAAGAAACC -3'

Posted On

2019-10-17