Mutagenetix > Incidental Mutations

Incidental Mutation 'R1646:5330417C22Rik'

173865

Institutional Source

Beutler Lab

Gene Symbol

5330417C22Rik

Ensembl Gene

ENSMUSG00000040412

Gene Name

RIKEN cDNA 5330417C22 gene

Synonyms

MMRRC Submission

039682-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R1646 (G1)

Quality Score

189

Status

Validated

Chromosome

Chromosomal Location

108455694-108536536 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108462990 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 751 (S751T)

Ref Sequence

ENSEMBL: ENSMUSP00000102237 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048012] [ENSMUST00000106625] [ENSMUST00000106626] [ENSMUST00000185128]

Predicted Effect

probably damaging
Transcript: ENSMUST00000048012
AA Change: S699T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040128
Gene: ENSMUSG00000040412
AA Change: S699T

Domain	Start	End	E-Value	Type
internal_repeat_1	3	212	1.11e-6	PROSPERO
internal_repeat_1	289	522	1.11e-6	PROSPERO
transmembrane domain	806	828	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106625
AA Change: S801T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102236
Gene: ENSMUSG00000040412
AA Change: S801T

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
internal_repeat_1	48	310	8.31e-11	PROSPERO
internal_repeat_1	325	620	8.31e-11	PROSPERO
transmembrane domain	904	926	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106626
AA Change: S751T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102237
Gene: ENSMUSG00000040412
AA Change: S751T

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
internal_repeat_1	48	178	2.5e-7	PROSPERO
internal_repeat_1	275	421	2.5e-7	PROSPERO
transmembrane domain	854	876	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148493

Predicted Effect

probably benign
Transcript: ENSMUST00000185128

SMART Domains

Protein: ENSMUSP00000138870
Gene: ENSMUSG00000040412

Domain	Start	End	E-Value	Type
low complexity region	25	31	N/A	INTRINSIC

Meta Mutation Damage Score

0.4371

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.8%

Validation Efficiency

96% (69/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
PHENOTYPE: Male homozygous mice are infertile. Microscopic analysis revealed defective spermatogenesis in the testis, and hypospermia and defective spermatozoa in the epididymides. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	T	G	4: 63,383,892	I581L	probably benign	Het
Cacnb4	A	G	2: 52,474,900	I117T	possibly damaging	Het
Capn1	A	T	19: 5,997,730	F434L	probably benign	Het
Cbs	T	C	17: 31,613,195	T547A	probably benign	Het
Col6a5	A	T	9: 105,862,749	L2557*	probably null	Het
D17Wsu92e	A	G	17: 27,793,960	S88P	probably damaging	Het
D1Ertd622e	A	T	1: 97,645,806	I178N	probably damaging	Het
Dach1	A	G	14: 98,169,114	S66P	unknown	Het
Ddx31	T	C	2: 28,892,520	V625A	probably benign	Het
Dmxl1	T	G	18: 49,962,261	V2969G	probably damaging	Het
Eapp	T	A	12: 54,685,960	K122*	probably null	Het
Epb41l5	G	T	1: 119,550,022		probably benign	Het
Fat1	T	C	8: 45,018,042	S1628P	probably damaging	Het
Fgfr2	T	A	7: 130,242,644	E37V	probably damaging	Het
Fgfr4	A	T	13: 55,165,964	N529Y	probably damaging	Het
Fsip2	A	T	2: 82,978,517	T1727S	probably benign	Het
Gak	A	T	5: 108,602,854	S397T	probably damaging	Het
Gm6040	T	A	8: 20,917,097	I36F	possibly damaging	Het
Grhl1	A	G	12: 24,611,861	D513G	possibly damaging	Het
Gstt1	T	A	10: 75,784,106	D219V	possibly damaging	Het
Hcfc2	T	G	10: 82,701,027	V91G	probably damaging	Het
Hells	A	T	19: 38,967,783	I808L	probably benign	Het
Icmt	T	A	4: 152,299,715	V110E	possibly damaging	Het
Iqca	C	T	1: 90,140,038	V164M	probably damaging	Het
Klri1	G	A	6: 129,703,336	P119S	probably benign	Het
Krt71	C	A	15: 101,738,764		probably null	Het
Lpin1	A	G	12: 16,573,658		probably null	Het
Metap2	T	C	10: 93,870,197	H241R	probably damaging	Het
Myh15	A	G	16: 49,195,568	Y1869C	probably damaging	Het
Myo1h	G	A	5: 114,317,632	G59E	possibly damaging	Het
Ncam2	T	G	16: 81,465,706		probably benign	Het
Npat	T	C	9: 53,555,134	V241A	probably benign	Het
Npbwr1	C	A	1: 5,917,254	V14L	probably benign	Het
Nup37	T	A	10: 88,178,234	V323E	possibly damaging	Het
Olfr1036	A	G	2: 86,075,616	N292S	probably damaging	Het
Olfr1351	C	A	10: 79,017,506	Y61*	probably null	Het
Olfr483	C	T	7: 108,103,591	T94I	probably benign	Het
Olfr743	A	T	14: 50,533,583	Q57L	probably benign	Het
Pdlim4	A	T	11: 54,056,254	L132Q	possibly damaging	Het
Ptcd3	T	C	6: 71,898,395	D201G	probably benign	Het
Ptk7	A	T	17: 46,586,297	F370I	probably benign	Het
Pus7l	T	C	15: 94,533,636	N371D	probably benign	Het
Pzp	G	A	6: 128,503,555	A589V	probably benign	Het
Rasef	T	A	4: 73,734,549	R572W	probably damaging	Het
Reep5	T	C	18: 34,349,659	T166A	probably benign	Het
Rhov	A	G	2: 119,271,020	V35A	probably damaging	Het
Ripk4	C	T	16: 97,743,897	G517R	probably damaging	Het
Rnasel	A	G	1: 153,755,054	T439A	probably damaging	Het
Slamf9	A	G	1: 172,477,340	T174A	probably benign	Het
Slc12a9	A	G	5: 137,323,149	L414P	probably damaging	Het
Slf1	G	A	13: 77,066,648	R640*	probably null	Het
Slfn8	G	T	11: 83,016,886	P277Q	probably damaging	Het
Stpg2	T	A	3: 139,419,702		probably benign	Het
Tm9sf3	A	C	19: 41,223,179	N408K	possibly damaging	Het
Trio	A	G	15: 27,758,347	V2049A	possibly damaging	Het
Ttn	A	T	2: 76,814,733	I11180N	probably damaging	Het
Ush2a	T	C	1: 188,415,821	C982R	probably damaging	Het
Usp36	C	T	11: 118,273,566	V207M	probably damaging	Het
Uvrag	T	C	7: 99,118,224	T67A	probably damaging	Het
Vasp	G	A	7: 19,260,978		probably benign	Het
Vmn2r115	T	C	17: 23,359,539	F662S	probably damaging	Het
Vmn2r54	A	T	7: 12,632,507	C167S	probably damaging	Het
Vmn2r71	C	A	7: 85,621,268	N547K	probably damaging	Het
Wasf2	A	G	4: 133,176,591	I37V	probably benign	Het
Wwc2	T	C	8: 47,842,902	E1111G	unknown	Het
Zfp317	A	G	9: 19,647,312	Y274C	probably damaging	Het
Zhx3	T	C	2: 160,781,275	Y324C	probably damaging	Het
Zzef1	T	C	11: 72,864,036		probably null	Het

Other mutations in 5330417C22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01552:5330417C22Rik	APN	3	108481312	missense	possibly damaging	0.48
IGL02079:5330417C22Rik	APN	3	108481359	missense	possibly damaging	0.91
IGL02268:5330417C22Rik	APN	3	108467797	missense	probably benign	0.00
IGL02869:5330417C22Rik	APN	3	108472866	missense	probably benign	0.34
IGL02891:5330417C22Rik	APN	3	108464392	missense	probably benign	0.03
IGL03088:5330417C22Rik	APN	3	108536358	missense	probably damaging	1.00
IGL03345:5330417C22Rik	APN	3	108492016	missense	possibly damaging	0.68
IGL03398:5330417C22Rik	APN	3	108461221	missense	possibly damaging	0.94
IGL03138:5330417C22Rik	UTSW	3	108471993	missense	probably benign	0.08
R0325:5330417C22Rik	UTSW	3	108461251	missense	probably damaging	1.00
R0730:5330417C22Rik	UTSW	3	108469535	missense	probably benign	0.00
R0844:5330417C22Rik	UTSW	3	108480963	splice site	probably benign
R1666:5330417C22Rik	UTSW	3	108469997	missense	probably benign	0.01
R1726:5330417C22Rik	UTSW	3	108467868	missense	possibly damaging	0.67
R2202:5330417C22Rik	UTSW	3	108475043	missense	probably damaging	1.00
R2203:5330417C22Rik	UTSW	3	108475043	missense	probably damaging	1.00
R2204:5330417C22Rik	UTSW	3	108475043	missense	probably damaging	1.00
R2205:5330417C22Rik	UTSW	3	108475043	missense	probably damaging	1.00
R2249:5330417C22Rik	UTSW	3	108471410	nonsense	probably null
R2443:5330417C22Rik	UTSW	3	108481349	missense	probably damaging	1.00
R3965:5330417C22Rik	UTSW	3	108458449	missense	probably damaging	1.00
R4171:5330417C22Rik	UTSW	3	108460943	missense	probably benign	0.30
R4785:5330417C22Rik	UTSW	3	108458227	utr 3 prime	probably benign
R4810:5330417C22Rik	UTSW	3	108470011	splice site	probably benign
R4862:5330417C22Rik	UTSW	3	108467833	missense	probably benign
R4923:5330417C22Rik	UTSW	3	108471968	critical splice donor site	probably null
R5040:5330417C22Rik	UTSW	3	108475001	missense	probably damaging	1.00
R5153:5330417C22Rik	UTSW	3	108472747	missense	possibly damaging	0.75
R5405:5330417C22Rik	UTSW	3	108467786	nonsense	probably null
R5609:5330417C22Rik	UTSW	3	108471415	missense	probably damaging	0.96
R5663:5330417C22Rik	UTSW	3	108492083	missense	probably benign	0.00
R6194:5330417C22Rik	UTSW	3	108465779	missense	probably benign	0.05
R6303:5330417C22Rik	UTSW	3	108461256	missense	probably damaging	1.00
R6304:5330417C22Rik	UTSW	3	108461256	missense	probably damaging	1.00
R6381:5330417C22Rik	UTSW	3	108481814	missense	possibly damaging	0.52
R6676:5330417C22Rik	UTSW	3	108469915	missense	probably damaging	1.00
R6852:5330417C22Rik	UTSW	3	108482338	missense	probably damaging	1.00
R7221:5330417C22Rik	UTSW	3	108475001	missense	possibly damaging	0.92
R7320:5330417C22Rik	UTSW	3	108464303	nonsense	probably null
R7384:5330417C22Rik	UTSW	3	108463468	critical splice donor site	probably null
R7542:5330417C22Rik	UTSW	3	108458227	utr 3 prime	probably benign
R7597:5330417C22Rik	UTSW	3	108471429	missense	possibly damaging	0.93
R7674:5330417C22Rik	UTSW	3	108462991	missense	probably damaging	1.00
X0022:5330417C22Rik	UTSW	3	108459746	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATCCAGGGACCAAGACTGTGAC -3'
(R):5'- GCTGGCTGTAACTTGACATGAGCG -3'

Sequencing Primer
(F):5'- GACTGTGACCCCAGGAAC -3'
(R):5'- GACATGAGCGTTTTGCATATTCC -3'

Posted On

2014-04-24