Mutagenetix > Incidental Mutations

Incidental Mutation 'R1366:4930548H24Rik'

156034

Institutional Source

Beutler Lab

Gene Symbol

4930548H24Rik

Ensembl Gene

ENSMUSG00000029138

Gene Name

RIKEN cDNA 4930548H24 gene

Synonyms

MMRRC Submission

039431-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R1366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31485740-31488476 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31487517 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 205 (C205S)

Ref Sequence

ENSEMBL: ENSMUSP00000031020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031020]

Predicted Effect

probably benign
Transcript: ENSMUST00000031020
AA Change: C205S

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000031020
Gene: ENSMUSG00000029138
AA Change: C205S

Domain	Start	End	E-Value	Type
coiled coil region	151	195	N/A	INTRINSIC
Pfam:DUF4515	202	407	2e-77	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202441

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202605

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.6%
3x: 97.1%
10x: 92.3%
20x: 80.8%

Validation Efficiency

93% (43/46)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 76,888,804	S297T	probably benign	Het
Acsm1	T	C	7: 119,658,288		probably benign	Het
Ankar	T	A	1: 72,698,649	N125Y	probably damaging	Het
Chd1l	T	C	3: 97,581,149	D517G	probably damaging	Het
Cir1	A	T	2: 73,306,413		probably benign	Het
Cpxm1	G	A	2: 130,396,122	R136W	probably damaging	Het
Cyhr1	T	C	15: 76,648,969	R190G	probably damaging	Het
Dnah10	A	T	5: 124,753,326	E761D	probably benign	Het
Fam186a	T	A	15: 99,943,389	E1658V	possibly damaging	Het
Fam98a	A	G	17: 75,539,386		probably benign	Het
Fanca	G	A	8: 123,304,281		probably benign	Het
Frmd6	T	C	12: 70,887,889		probably benign	Het
Gmpr2	T	C	14: 55,676,743		probably benign	Het
Hck	G	A	2: 153,138,295	G348D	probably damaging	Het
Ifnab	T	A	4: 88,691,100	Q43L	possibly damaging	Het
Ilkap	A	G	1: 91,387,215	I142T	possibly damaging	Het
Lamc3	T	C	2: 31,928,847	S1206P	probably damaging	Het
Mfsd13a	C	T	19: 46,366,504	T40I	probably benign	Het
Mid1	A	C	X: 169,986,094	N215H	probably damaging	Het
Mkrn1	T	C	6: 39,405,917	T134A	probably benign	Het
Mmp9	T	A	2: 164,953,342	V628E	probably damaging	Het
Msi2	A	T	11: 88,716,580	V67D	probably damaging	Het
Ncapd3	T	A	9: 27,057,940	V630E	probably damaging	Het
Nkain1	A	G	4: 130,537,316	V73A	probably damaging	Het
Nphp4	T	A	4: 152,502,926	D245E	probably damaging	Het
Olfr1014	G	A	2: 85,777,004	C140Y	probably benign	Het
Olfr114	T	C	17: 37,589,764	I196M	probably benign	Het
Olfr57	T	G	10: 79,035,042	M82R	probably damaging	Het
Pkd1l1	T	C	11: 8,941,038		probably benign	Het
Plcxd1	A	C	5: 110,102,230	I184L	probably damaging	Het
Prl3b1	G	A	13: 27,243,865	A53T	probably benign	Het
Rasl10b	G	A	11: 83,417,839		probably null	Het
Scube2	A	G	7: 109,804,614	Y890H	probably damaging	Het
Slco6c1	T	A	1: 97,128,203		probably null	Het
Tnfaip2	T	G	12: 111,449,322	F485V	probably benign	Het
Tpd52	T	C	3: 8,963,933	D17G	probably damaging	Het
Ube4b	T	C	4: 149,335,149	D1034G	probably damaging	Het
Vmn2r118	G	A	17: 55,593,237	Q556*	probably null	Het

Other mutations in 4930548H24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01457:4930548H24Rik	APN	5	31487427	missense	probably benign	0.00
IGL02009:4930548H24Rik	APN	5	31487491	missense	probably benign	0.00
FR4304:4930548H24Rik	UTSW	5	31487373	small deletion	probably benign
FR4340:4930548H24Rik	UTSW	5	31487373	small deletion	probably benign
FR4342:4930548H24Rik	UTSW	5	31487373	small deletion	probably benign
FR4589:4930548H24Rik	UTSW	5	31487373	small deletion	probably benign
LCD18:4930548H24Rik	UTSW	5	31487373	small deletion	probably benign
PIT4486001:4930548H24Rik	UTSW	5	31487743	missense	probably damaging	0.99
R0650:4930548H24Rik	UTSW	5	31485968	unclassified	probably benign
R2050:4930548H24Rik	UTSW	5	31486058	missense	possibly damaging	0.68
R2070:4930548H24Rik	UTSW	5	31487383	missense	possibly damaging	0.91
R2862:4930548H24Rik	UTSW	5	31485911	unclassified	probably benign
R3965:4930548H24Rik	UTSW	5	31487991	missense	probably benign	0.02
R4299:4930548H24Rik	UTSW	5	31487526	missense	possibly damaging	0.82
R4634:4930548H24Rik	UTSW	5	31488091	missense	probably benign	0.01
R4635:4930548H24Rik	UTSW	5	31488091	missense	probably benign	0.01
R4637:4930548H24Rik	UTSW	5	31488091	missense	probably benign	0.01
R4887:4930548H24Rik	UTSW	5	31486252	missense	probably benign	0.19
R5587:4930548H24Rik	UTSW	5	31486084	missense	probably benign
R5897:4930548H24Rik	UTSW	5	31485964	unclassified	probably benign
R6181:4930548H24Rik	UTSW	5	31488055	missense	probably damaging	0.98
R6183:4930548H24Rik	UTSW	5	31487976	missense	probably damaging	0.99
R8028:4930548H24Rik	UTSW	5	31487922	missense	possibly damaging	0.92
R8231:4930548H24Rik	UTSW	5	31486207	missense	probably benign	0.35
RF006:4930548H24Rik	UTSW	5	31487550	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAAGGTTCTCCTCAGCCATCAACG -3'
(R):5'- TCCATTGACTGAAACTGCTGCTCC -3'

Sequencing Primer
(F):5'- AAATGAACTTTTCAAGTCAGAGAGGC -3'
(R):5'- TGAAACTGCTGCTCCAACTG -3'

Posted On

2014-02-11