Mutagenetix > Incidental Mutation

Incidental Mutation 'R6276:4931406P16Rik'

507640

Institutional Source

Beutler Lab

Gene Symbol

4931406P16Rik

Ensembl Gene

ENSMUSG00000066571

Gene Name

RIKEN cDNA 4931406P16 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6276 (G1)

Quality Score

141.008

Status

Validated

Chromosome

Chromosomal Location

34236707-34313551 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 34242377 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 627 (Y627*)

Ref Sequence

ENSEMBL: ENSMUSP00000145762 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085592] [ENSMUST00000108074] [ENSMUST00000205264] [ENSMUST00000206399]

AlphaFold

Q8C5X1

Predicted Effect

probably null
Transcript: ENSMUST00000085592
AA Change: Y839*

SMART Domains

Protein: ENSMUSP00000082730
Gene: ENSMUSG00000066571
AA Change: Y839*

Domain	Start	End	E-Value	Type
low complexity region	40	57	N/A	INTRINSIC
Pfam:DUF4745	59	187	1.3e-57	PFAM
low complexity region	319	332	N/A	INTRINSIC
low complexity region	592	602	N/A	INTRINSIC
low complexity region	677	696	N/A	INTRINSIC
low complexity region	699	729	N/A	INTRINSIC
low complexity region	771	786	N/A	INTRINSIC
low complexity region	856	868	N/A	INTRINSIC
low complexity region	890	913	N/A	INTRINSIC
low complexity region	940	951	N/A	INTRINSIC
low complexity region	1026	1049	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000108074
AA Change: Y839*

SMART Domains

Protein: ENSMUSP00000103709
Gene: ENSMUSG00000066571
AA Change: Y839*

Domain	Start	End	E-Value	Type
low complexity region	40	57	N/A	INTRINSIC
low complexity region	319	332	N/A	INTRINSIC
low complexity region	592	602	N/A	INTRINSIC
low complexity region	677	696	N/A	INTRINSIC
low complexity region	699	729	N/A	INTRINSIC
low complexity region	771	786	N/A	INTRINSIC
low complexity region	856	868	N/A	INTRINSIC
low complexity region	890	913	N/A	INTRINSIC
low complexity region	940	951	N/A	INTRINSIC
low complexity region	1026	1049	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127010

Predicted Effect

probably null
Transcript: ENSMUST00000205264
AA Change: Y123*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206245

Predicted Effect

probably null
Transcript: ENSMUST00000206399
AA Change: Y627*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930504O13Rik	T	A	11: 58,446,366	I94L	possibly damaging	Het
Actr3	A	T	1: 125,395,137	D364E	probably benign	Het
Adra2c	C	T	5: 35,280,079	T65I	probably damaging	Het
Agap2	T	A	10: 127,089,360		probably null	Het
Ager	T	C	17: 34,598,754	V126A	possibly damaging	Het
Arhgap39	T	C	15: 76,737,536	I288M	probably benign	Het
Arhgap45	A	T	10: 80,026,234	S541C	probably benign	Het
Asb4	A	G	6: 5,431,043	Y426C	probably damaging	Het
Azi2	C	T	9: 118,049,338	T82I	probably damaging	Het
Baz2b	T	A	2: 59,948,223	R764S	probably damaging	Het
Ccdc146	A	C	5: 21,301,340	I701S	probably damaging	Het
Cd55b	T	A	1: 130,418,166	I172F	probably damaging	Het
Cdk11b	A	G	4: 155,634,190	E199G	probably benign	Het
Cntnap4	A	T	8: 112,752,289	T216S	possibly damaging	Het
D5Ertd579e	A	T	5: 36,604,514	N1336K	possibly damaging	Het
Dlg5	T	C	14: 24,164,568	N649S	probably damaging	Het
Dmxl1	A	G	18: 49,846,586	E96G	probably benign	Het
Dscaml1	C	T	9: 45,668,160	T335I	possibly damaging	Het
Epb41l2	G	T	10: 25,502,124	G695C	probably damaging	Het
Erbb4	C	T	1: 68,560,576	R114H	probably damaging	Het
F2rl1	G	T	13: 95,513,938	Y145*	probably null	Het
Fam58b	T	C	11: 78,751,230	K145E	probably damaging	Het
Fsip2	A	T	2: 82,980,441	Y2368F	possibly damaging	Het
Galnt7	C	T	8: 57,536,578		probably null	Het
Gm6811	T	A	17: 21,093,983		noncoding transcript	Het
Gm6811	T	G	17: 21,094,690		noncoding transcript	Het
H2-M1	G	A	17: 36,671,710	T86M	possibly damaging	Het
Hk2	T	C	6: 82,743,366	D170G	probably benign	Het
Hmcn1	C	T	1: 150,738,681	A1325T	possibly damaging	Het
Insrr	T	A	3: 87,800,519	Y89*	probably null	Het
Itga1	T	C	13: 114,980,852	E871G	probably benign	Het
Kat6a	T	C	8: 22,939,405	L1592P	possibly damaging	Het
Kndc1	C	A	7: 139,921,063	A756E	probably benign	Het
Krt12	A	T	11: 99,421,902	C105*	probably null	Het
Lama1	G	A	17: 67,784,088		probably null	Het
Lama3	A	G	18: 12,506,949	N67S	probably benign	Het
Lrrk1	A	G	7: 66,306,839		probably null	Het
Map2	T	C	1: 66,399,419	V34A	probably damaging	Het
Mroh6	A	G	15: 75,885,700	L487P	probably damaging	Het
Myo18b	A	T	5: 112,811,642	S1430T	probably benign	Het
Notch3	G	A	17: 32,154,749	T495I	probably benign	Het
Olfr391-ps	A	T	11: 73,799,403	M118K	probably damaging	Het
Palld	C	T	8: 61,513,423	A980T	probably damaging	Het
Paxip1	A	T	5: 27,761,668	I620N	probably damaging	Het
Pcdha6	A	G	18: 36,969,767		probably null	Het
Pcdhb11	G	A	18: 37,421,760	V48M	probably benign	Het
Pcdhga6	A	G	18: 37,707,644	E139G	probably benign	Het
Pck1	T	C	2: 173,157,319	V426A	probably damaging	Het
Pck2	T	A	14: 55,542,624	I110N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Phactr3	G	A	2: 178,279,019	E222K	probably damaging	Het
Ppip5k1	A	T	2: 121,323,203		probably benign	Het
Prodh2	A	G	7: 30,506,651	H278R	probably benign	Het
Rspry1	T	A	8: 94,623,258	H91Q	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480		probably benign	Het
Smn1	A	G	13: 100,127,995	N78S	possibly damaging	Het
Spta1	T	A	1: 174,218,512	I1614N	probably damaging	Het
Syt17	T	C	7: 118,434,290	D165G	probably damaging	Het
Tbck	A	G	3: 132,743,005	Y593C	probably damaging	Het
Tcaf2	G	C	6: 42,629,753	F422L	probably benign	Het
Tex15	T	A	8: 33,577,189	F2216I	possibly damaging	Het
Trpc4	A	G	3: 54,318,020	E846G	probably benign	Het
Ttc41	T	C	10: 86,744,449	I753T	probably benign	Het
Vdac1	C	T	11: 52,376,482	T70M	possibly damaging	Het
Vmn1r124	A	C	7: 21,260,179	F147V	probably benign	Het
Vmn1r220	T	C	13: 23,184,295	D77G	probably damaging	Het
Vmn2r28	T	C	7: 5,490,731	H72R	probably benign	Het
Vmn2r78	A	T	7: 86,921,110	I279L	probably benign	Het
Vmn2r95	G	T	17: 18,451,470	A490S	possibly damaging	Het
Wdfy4	C	T	14: 33,109,525	A915T	possibly damaging	Het
Zmiz2	G	T	11: 6,395,604		probably null	Het
Zscan2	A	G	7: 80,875,809	N426S	probably benign	Het

Other mutations in 4931406P16Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:4931406P16Rik	APN	7	34245987	splice site	probably benign
IGL00160:4931406P16Rik	APN	7	34239006	missense	possibly damaging	0.88
IGL00691:4931406P16Rik	APN	7	34245485	missense	probably damaging	1.00
IGL01312:4931406P16Rik	APN	7	34256508	missense	probably benign	0.19
IGL01954:4931406P16Rik	APN	7	34245035	missense	probably damaging	1.00
IGL02016:4931406P16Rik	APN	7	34239101	missense	possibly damaging	0.74
IGL02390:4931406P16Rik	APN	7	34248218	missense	probably damaging	1.00
IGL02407:4931406P16Rik	APN	7	34256484	missense	probably damaging	0.99
IGL02677:4931406P16Rik	APN	7	34242409	splice site	probably benign
IGL02929:4931406P16Rik	APN	7	34245082	missense	possibly damaging	0.46
IGL03285:4931406P16Rik	APN	7	34284991	missense	possibly damaging	0.81
I1329:4931406P16Rik	UTSW	7	34245194	missense	probably benign	0.00
R0004:4931406P16Rik	UTSW	7	34256428	missense	probably damaging	0.99
R0100:4931406P16Rik	UTSW	7	34254011	missense	possibly damaging	0.95
R0100:4931406P16Rik	UTSW	7	34254011	missense	possibly damaging	0.95
R0135:4931406P16Rik	UTSW	7	34245957	missense	probably damaging	1.00
R0137:4931406P16Rik	UTSW	7	34239219	missense	probably damaging	1.00
R0556:4931406P16Rik	UTSW	7	34239797	missense	probably damaging	0.99
R0687:4931406P16Rik	UTSW	7	34245418	missense	possibly damaging	0.95
R0928:4931406P16Rik	UTSW	7	34248246	splice site	probably null
R1719:4931406P16Rik	UTSW	7	34248206	missense	probably damaging	0.98
R1908:4931406P16Rik	UTSW	7	34258036	missense	probably benign	0.14
R1909:4931406P16Rik	UTSW	7	34258036	missense	probably benign	0.14
R1976:4931406P16Rik	UTSW	7	34257380	missense	probably damaging	0.99
R2496:4931406P16Rik	UTSW	7	34256491	missense	possibly damaging	0.93
R3005:4931406P16Rik	UTSW	7	34284784	missense	probably damaging	1.00
R4666:4931406P16Rik	UTSW	7	34284773	missense	probably damaging	0.98
R4832:4931406P16Rik	UTSW	7	34238908	utr 3 prime	probably benign
R4870:4931406P16Rik	UTSW	7	34284887	missense	possibly damaging	0.83
R4989:4931406P16Rik	UTSW	7	34245800	missense	probably damaging	1.00
R5033:4931406P16Rik	UTSW	7	34245812	missense	probably benign
R5308:4931406P16Rik	UTSW	7	34245755	nonsense	probably null
R5366:4931406P16Rik	UTSW	7	34242288	missense	possibly damaging	0.74
R5386:4931406P16Rik	UTSW	7	34242388	missense	probably damaging	0.99
R5688:4931406P16Rik	UTSW	7	34253991	missense	possibly damaging	0.74
R5688:4931406P16Rik	UTSW	7	34284709	missense	probably damaging	0.99
R5714:4931406P16Rik	UTSW	7	34240516	nonsense	probably null
R5733:4931406P16Rik	UTSW	7	34245080	missense	probably damaging	0.99
R5772:4931406P16Rik	UTSW	7	34253988	missense	probably damaging	0.97
R6059:4931406P16Rik	UTSW	7	34245463	missense	possibly damaging	0.90
R6211:4931406P16Rik	UTSW	7	34239004	missense	possibly damaging	0.95
R6477:4931406P16Rik	UTSW	7	34257630	critical splice donor site	probably null
R6757:4931406P16Rik	UTSW	7	34239077	missense	possibly damaging	0.89
R6912:4931406P16Rik	UTSW	7	34245668	missense	probably benign
R7156:4931406P16Rik	UTSW	7	34245708	missense	possibly damaging	0.80
R7317:4931406P16Rik	UTSW	7	34263647	missense	probably benign
R7431:4931406P16Rik	UTSW	7	34284794	missense	possibly damaging	0.73
R7452:4931406P16Rik	UTSW	7	34245671	missense	probably benign
R7996:4931406P16Rik	UTSW	7	34263599	missense	possibly damaging	0.77
R8348:4931406P16Rik	UTSW	7	34285144	missense	probably damaging	1.00
R8448:4931406P16Rik	UTSW	7	34285144	missense	probably damaging	1.00
R8989:4931406P16Rik	UTSW	7	34257444	missense	probably damaging	0.99
R9010:4931406P16Rik	UTSW	7	34239066	missense	probably benign	0.01
R9095:4931406P16Rik	UTSW	7	34257345	critical splice donor site	probably null
R9505:4931406P16Rik	UTSW	7	34284946	missense	probably damaging	1.00
R9530:4931406P16Rik	UTSW	7	34263644	missense	probably benign	0.01
RF019:4931406P16Rik	UTSW	7	34240549	missense	probably damaging	0.98
X0021:4931406P16Rik	UTSW	7	34245363	missense	possibly damaging	0.94
Z1177:4931406P16Rik	UTSW	7	34284755	missense	probably damaging	0.96
Z1186:4931406P16Rik	UTSW	7	34239108	missense	probably benign
Z1186:4931406P16Rik	UTSW	7	34239158	missense	probably benign	0.03
Z1186:4931406P16Rik	UTSW	7	34245760	missense	probably benign
Z1191:4931406P16Rik	UTSW	7	34239108	missense	probably benign
Z1191:4931406P16Rik	UTSW	7	34239158	missense	probably benign	0.03
Z1191:4931406P16Rik	UTSW	7	34245760	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTCCTCAAAGCAAGGCCGTAAG -3'
(R):5'- TTTCAGTTCAGGGAGTGGCC -3'

Sequencing Primer
(F):5'- GAGGCATCCAGATCCCAAATTTG -3'
(R):5'- TTCAGGGAGTGGCCATAGC -3'

Posted On

2018-03-15