Mutagenetix > Incidental Mutations

Incidental Mutation 'R6275:4932415D10Rik'

507586

Institutional Source

Beutler Lab

Gene Symbol

4932415D10Rik

Ensembl Gene

ENSMUSG00000044581

Gene Name

RIKEN cDNA 4932415D10 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R6275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82282116-82316582 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82285368 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 3936 (D3936G)

Ref Sequence

ENSEMBL: ENSMUSP00000151425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171401] [ENSMUST00000217661]

Predicted Effect

probably benign
Transcript: ENSMUST00000171401

SMART Domains

Protein: ENSMUSP00000126178
Gene: ENSMUSG00000044581

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	241	263	N/A	INTRINSIC
low complexity region	387	405	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000217661
AA Change: D3936G

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.4%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,997,791	L30H	probably damaging	Het
Abcb6	T	C	1: 75,172,551		probably null	Het
Acsbg1	T	A	9: 54,609,772	M586L	probably benign	Het
Ano6	A	T	15: 95,913,433	Y159F	probably damaging	Het
C1ql1	A	G	11: 102,939,749	I254T	probably damaging	Het
Ccdc81	T	C	7: 89,882,311	D318G	possibly damaging	Het
Ccr7	C	T	11: 99,145,663	M144I	probably damaging	Het
Cdca3	C	T	6: 124,832,664		probably null	Het
Ces1h	A	T	8: 93,372,646	L93I	probably benign	Het
Cntfr	T	C	4: 41,663,216	D197G	possibly damaging	Het
Cyp2d12	C	A	15: 82,556,658	P126T	probably benign	Het
Dnah10	A	G	5: 124,785,184	T2225A	probably damaging	Het
Edrf1	A	T	7: 133,667,582	N1147Y	possibly damaging	Het
Ermap	C	T	4: 119,178,550	V414M	probably damaging	Het
Fam13a	A	G	6: 58,954,257	I446T	probably damaging	Het
Fgfbp3	T	C	19: 36,918,753	H155R	possibly damaging	Het
Folr1	T	A	7: 101,859,535	N61I	probably damaging	Het
Fsip1	T	C	2: 118,205,102	I431V	probably benign	Het
Gm5039	T	C	12: 88,321,225	D86G	possibly damaging	Het
Gm5493	A	T	17: 22,750,070	E74D	probably benign	Het
Gm6803	T	C	12: 88,018,485	N96S	probably benign	Het
H2-Oa	A	G	17: 34,094,566	D197G	probably benign	Het
Hps1	T	C	19: 42,769,607	E169G	probably null	Het
Il17rc	A	T	6: 113,480,347	M372L	probably benign	Het
Itga10	A	G	3: 96,658,185	S1042G	probably benign	Het
Jchain	A	T	5: 88,521,353	V147E	probably damaging	Het
Laptm4b	A	G	15: 34,283,327	T211A	probably benign	Het
Mal2	T	C	15: 54,571,639		probably null	Het
Mov10l1	T	A	15: 89,026,620	I1071N	probably damaging	Het
Mpp2	T	A	11: 102,060,969	Y401F	probably damaging	Het
Myh15	A	G	16: 49,145,247	T1172A	probably benign	Het
Olfr635	T	A	7: 103,979,974	S261T	probably damaging	Het
Pcnx	G	T	12: 81,918,607	S516I	probably benign	Het
Pidd1	C	T	7: 141,439,795	A685T	probably damaging	Het
Psg28	A	C	7: 18,430,440	Y116D	probably damaging	Het
Psmd11	T	C	11: 80,438,632		probably benign	Het
Rapgefl1	T	A	11: 98,851,120	Y637N	probably damaging	Het
Rbm25	T	A	12: 83,644,432	M66K	probably damaging	Het
Rnf38	T	A	4: 44,152,408	H52L	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGTGGCGGCGG	7: 97,579,923		probably benign	Het
Sec62	A	G	3: 30,809,836	Q89R	probably damaging	Het
Serpina6	T	A	12: 103,648,720	Q289L	probably benign	Het
Sf3b2	A	C	19: 5,283,650	I640S	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480		probably benign	Het
Slc26a11	T	C	11: 119,359,299	F127L	probably benign	Het
Stac3	T	A	10: 127,507,746	Y252*	probably null	Het
Stoml3	G	A	3: 53,507,506	A240T	probably damaging	Het
Tanc1	A	T	2: 59,843,510	H1653L	probably benign	Het
Tll1	A	T	8: 64,051,367	L665*	probably null	Het
Tnr	A	C	1: 159,861,270	Q434P	probably damaging	Het
Tpgs1	C	A	10: 79,675,520	D165E	probably benign	Het
Tsc2	A	G	17: 24,600,420	V1185A	probably benign	Het
Tulp4	A	G	17: 6,198,736	H203R	probably damaging	Het
Txnl4a	T	A	18: 80,218,765	M72K	possibly damaging	Het
Usp42	G	A	5: 143,714,972	R1099W	probably damaging	Het
Zfp292	G	A	4: 34,808,883	A1387V	possibly damaging	Het
Zfp994	A	T	17: 22,199,991	L659*	probably null	Het

Other mutations in 4932415D10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:4932415D10Rik	APN	10	82283752	missense	probably benign	0.06
IGL01457:4932415D10Rik	APN	10	82284734	missense	probably damaging	1.00
IGL01540:4932415D10Rik	APN	10	82284182	missense	possibly damaging	0.87
IGL02693:4932415D10Rik	APN	10	82285258	missense	probably benign	0.06
IGL02867:4932415D10Rik	APN	10	82283820	missense	probably damaging	0.96
IGL02889:4932415D10Rik	APN	10	82283820	missense	probably damaging	0.96
IGL03080:4932415D10Rik	APN	10	82283982	missense	probably damaging	0.99
IGL03120:4932415D10Rik	APN	10	82285035	missense	possibly damaging	0.90
IGL03351:4932415D10Rik	APN	10	82283567	utr 3 prime	probably benign
FR4449:4932415D10Rik	UTSW	10	82285469	frame shift	probably null
FR4548:4932415D10Rik	UTSW	10	82290996	small insertion	probably benign
FR4737:4932415D10Rik	UTSW	10	82285469	small deletion	probably benign
PIT4480001:4932415D10Rik	UTSW	10	82283752	missense	probably benign	0.06
R0102:4932415D10Rik	UTSW	10	82283556	missense	probably damaging	1.00
R0312:4932415D10Rik	UTSW	10	82284369	missense	probably damaging	1.00
R1303:4932415D10Rik	UTSW	10	82284556	missense	possibly damaging	0.94
R2039:4932415D10Rik	UTSW	10	82284676	missense	probably damaging	1.00
R2356:4932415D10Rik	UTSW	10	82283955	missense	possibly damaging	0.94
R4740:4932415D10Rik	UTSW	10	82283647	missense	possibly damaging	0.50
R4857:4932415D10Rik	UTSW	10	82283848	missense	possibly damaging	0.61
R5017:4932415D10Rik	UTSW	10	82296676	missense	unknown
R5095:4932415D10Rik	UTSW	10	82283667	missense	probably damaging	1.00
R5209:4932415D10Rik	UTSW	10	82283818	missense	possibly damaging	0.84
R5388:4932415D10Rik	UTSW	10	82283727	missense	probably damaging	0.99
R5642:4932415D10Rik	UTSW	10	82284483	missense	probably damaging	1.00
R5646:4932415D10Rik	UTSW	10	82283776	missense	probably damaging	0.99
R6188:4932415D10Rik	UTSW	10	82285257	missense	probably damaging	0.96
R6215:4932415D10Rik	UTSW	10	82291112	missense	probably benign	0.07
R6252:4932415D10Rik	UTSW	10	82283754	missense	probably benign	0.30
R6303:4932415D10Rik	UTSW	10	82290368	missense	possibly damaging	0.79
R6304:4932415D10Rik	UTSW	10	82290368	missense	possibly damaging	0.79
R6313:4932415D10Rik	UTSW	10	82293636	missense	probably benign	0.00
R6323:4932415D10Rik	UTSW	10	82283082	missense	probably benign	0.27
R6374:4932415D10Rik	UTSW	10	82288897	unclassified	probably benign
R6407:4932415D10Rik	UTSW	10	82293811	missense	probably benign	0.16
R6468:4932415D10Rik	UTSW	10	82295316	missense	probably benign	0.01
R6490:4932415D10Rik	UTSW	10	82289304	missense	possibly damaging	0.90
R6605:4932415D10Rik	UTSW	10	82296037	missense	probably benign	0.27
R6614:4932415D10Rik	UTSW	10	82291648	missense	probably benign	0.31
R6626:4932415D10Rik	UTSW	10	82292833	missense	probably benign	0.03
R6630:4932415D10Rik	UTSW	10	82287072	missense	possibly damaging	0.81
R6646:4932415D10Rik	UTSW	10	82296830	missense	unknown
R6723:4932415D10Rik	UTSW	10	82289823	missense	possibly damaging	0.50
R6751:4932415D10Rik	UTSW	10	82283497	missense	probably benign	0.06
R6850:4932415D10Rik	UTSW	10	82293054	missense	possibly damaging	0.68
R6944:4932415D10Rik	UTSW	10	82296222	missense	probably benign	0.03
R6957:4932415D10Rik	UTSW	10	82293786	missense	probably benign	0.03
R6988:4932415D10Rik	UTSW	10	82291899	missense	possibly damaging	0.79
R7069:4932415D10Rik	UTSW	10	82289943	missense	probably damaging	0.99
R7164:4932415D10Rik	UTSW	10	82286229	missense	probably damaging	1.00
R7175:4932415D10Rik	UTSW	10	82286749	missense	probably damaging	1.00
R7201:4932415D10Rik	UTSW	10	82291627	missense	probably benign	0.03
R7203:4932415D10Rik	UTSW	10	82293414	missense	probably benign	0.00
R7205:4932415D10Rik	UTSW	10	82289327	missense	probably benign	0.35
R7241:4932415D10Rik	UTSW	10	82287042	missense	probably benign	0.01
R7283:4932415D10Rik	UTSW	10	82291297	missense	possibly damaging	0.90
R7305:4932415D10Rik	UTSW	10	82285119	missense	probably benign	0.06
R7358:4932415D10Rik	UTSW	10	82292013	missense	possibly damaging	0.79
R7360:4932415D10Rik	UTSW	10	82296507	missense	unknown
R7362:4932415D10Rik	UTSW	10	82292997	missense	possibly damaging	0.79
R7385:4932415D10Rik	UTSW	10	82287737	missense	probably benign	0.03
R7385:4932415D10Rik	UTSW	10	82287895	missense	probably benign	0.05
R7472:4932415D10Rik	UTSW	10	82283587	missense	probably benign	0.03
R7493:4932415D10Rik	UTSW	10	82288964	nonsense	probably null
R7493:4932415D10Rik	UTSW	10	82316430	missense	unknown
R7498:4932415D10Rik	UTSW	10	82291279	missense	probably benign	0.03
R7512:4932415D10Rik	UTSW	10	82292635	missense	probably benign	0.31
R7560:4932415D10Rik	UTSW	10	82284615	missense	probably damaging	1.00
R7591:4932415D10Rik	UTSW	10	82292212	missense	probably benign	0.16
R7636:4932415D10Rik	UTSW	10	82295139	missense	probably benign	0.01
R7640:4932415D10Rik	UTSW	10	82294656	missense	probably damaging	0.99
R7709:4932415D10Rik	UTSW	10	82290532	missense	possibly damaging	0.81
R7790:4932415D10Rik	UTSW	10	82287495	missense	probably benign	0.06
R7875:4932415D10Rik	UTSW	10	82287622	missense	possibly damaging	0.79
R7878:4932415D10Rik	UTSW	10	82284022	missense	probably benign	0.04
R7899:4932415D10Rik	UTSW	10	82282897	missense	unknown
R7905:4932415D10Rik	UTSW	10	82296102	missense	probably benign	0.03
R7975:4932415D10Rik	UTSW	10	82283989	missense	possibly damaging	0.95
R7988:4932415D10Rik	UTSW	10	82296100	missense	probably benign	0.03
R8076:4932415D10Rik	UTSW	10	82296686	nonsense	probably null
R8144:4932415D10Rik	UTSW	10	82294599	nonsense	probably null
R8429:4932415D10Rik	UTSW	10	82289467	missense	possibly damaging	0.62
R8509:4932415D10Rik	UTSW	10	82291116	missense	probably benign	0.01
R8515:4932415D10Rik	UTSW	10	82288602	missense	probably benign	0.00
RF017:4932415D10Rik	UTSW	10	82290992	small insertion	probably benign
RF055:4932415D10Rik	UTSW	10	82290993	small insertion	probably benign
Z1176:4932415D10Rik	UTSW	10	82282537	missense	unknown
Z1176:4932415D10Rik	UTSW	10	82289896	missense	possibly damaging	0.94
Z1176:4932415D10Rik	UTSW	10	82293228	missense	probably benign	0.03
Z1177:4932415D10Rik	UTSW	10	82285798	missense	possibly damaging	0.46
Z1177:4932415D10Rik	UTSW	10	82287126	missense	possibly damaging	0.85
Z1177:4932415D10Rik	UTSW	10	82287417	missense	probably damaging	0.99
Z1177:4932415D10Rik	UTSW	10	82289686	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAGCTTCTTCGAGCCCCTAATC -3'
(R):5'- AAGACTCAGAGGTGACCACATC -3'

Sequencing Primer
(F):5'- CCTGTAACTCCTCTGATAGTAGTTTG -3'
(R):5'- GTGACCACATCAGCAAAATTACAGG -3'

Posted On

2018-03-15