Mutagenetix > Incidental Mutation

Incidental Mutation 'R1719:4931406P16Rik'

191281

Institutional Source

Beutler Lab

Gene Symbol

4931406P16Rik

Ensembl Gene

ENSMUSG00000066571

Gene Name

RIKEN cDNA 4931406P16 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1719 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34236707-34313551 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34248206 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 459 (M459K)

Ref Sequence

ENSEMBL: ENSMUSP00000103709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085592] [ENSMUST00000105172] [ENSMUST00000108074] [ENSMUST00000205264] [ENSMUST00000206399]

AlphaFold

Q8C5X1

Predicted Effect

probably damaging
Transcript: ENSMUST00000085592
AA Change: M459K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082730
Gene: ENSMUSG00000066571
AA Change: M459K

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 benign
Transcript: ENSMUST00000105172

SMART Domains

Protein: ENSMUSP00000100805
Gene: ENSMUSG00000078380

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L23eN	13	62	1.1e-20	PFAM
Pfam:Ribosomal_L23	70	142	6.2e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108074
AA Change: M459K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103709
Gene: ENSMUSG00000066571
AA Change: M459K

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

probably benign
Transcript: ENSMUST00000205264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206245

Predicted Effect

probably benign
Transcript: ENSMUST00000206399
AA Change: M247K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207005

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	T	19: 31,927,126	K263M	probably damaging	Het
Adam26a	G	A	8: 43,570,036	T139M	possibly damaging	Het
Agrp	G	T	8: 105,566,835	T106K	probably damaging	Het
Akap9	C	T	5: 3,957,645	Q238*	probably null	Het
Ankrd6	A	T	4: 32,828,774	V85E	probably damaging	Het
Ap2b1	C	A	11: 83,324,604	P125T	probably damaging	Het
Arhgef7	C	A	8: 11,808,713		probably null	Het
Cblc	A	T	7: 19,790,474	D280E	probably benign	Het
Cdk11b	T	C	4: 155,648,397		probably benign	Het
Cela2a	G	T	4: 141,817,946	F239L	probably damaging	Het
Cfap57	A	T	4: 118,606,631	C342S	probably benign	Het
Clca4a	C	A	3: 144,963,755	W345L	probably damaging	Het
Col6a5	T	C	9: 105,931,293	D852G	unknown	Het
Cyp4a32	T	C	4: 115,611,308	V329A	possibly damaging	Het
Dcaf8	C	T	1: 172,175,495	P287S	probably damaging	Het
Dmxl1	T	A	18: 49,934,637	D2654E	probably damaging	Het
Dpep1	A	T	8: 123,200,747	I347F	possibly damaging	Het
Dtnb	T	A	12: 3,643,936	Y56*	probably null	Het
Duox1	T	C	2: 122,338,644	Y1182H	possibly damaging	Het
Dusp10	T	A	1: 184,037,225	S129R	probably benign	Het
Epcam	G	A	17: 87,642,128	R173Q	probably damaging	Het
Ephb3	A	G	16: 21,220,650	E384G	probably damaging	Het
Exosc10	A	T	4: 148,568,503	D525V	probably damaging	Het
Fam186a	T	A	15: 99,942,346	T2006S	possibly damaging	Het
Fbxw21	T	A	9: 109,148,174	T156S	possibly damaging	Het
Fcrl5	A	G	3: 87,457,397	E568G	probably damaging	Het
Fmn2	C	T	1: 174,608,458		probably benign	Het
Fut9	A	G	4: 25,619,744	F357L	possibly damaging	Het
Gas2l1	G	A	11: 5,064,266	H65Y	probably damaging	Het
Gjd2	A	T	2: 114,013,133	M1K	probably null	Het
Gm12169	T	C	11: 46,526,294	L13P	probably damaging	Het
Gm884	T	A	11: 103,617,071		probably benign	Het
Hdgfl3	T	C	7: 81,899,684	Y149C	probably damaging	Het
Hmcn2	T	C	2: 31,354,721	V730A	probably damaging	Het
Inpp4a	A	T	1: 37,398,799	S223C	probably damaging	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Knl1	T	A	2: 119,071,738	W1307R	probably benign	Het
Kpna3	A	G	14: 61,387,477	L139P	probably damaging	Het
Lama3	T	C	18: 12,479,872		probably null	Het
Lin54	G	A	5: 100,485,249	P192L	possibly damaging	Het
Lpo	T	A	11: 87,809,192		probably null	Het
Lrrd1	T	G	5: 3,850,483		probably null	Het
Nbas	T	A	12: 13,560,977		probably null	Het
Nemp1	G	A	10: 127,696,248	G341D	probably damaging	Het
Nrp1	T	C	8: 128,425,885	F192L	probably damaging	Het
Nufip2	T	A	11: 77,693,090	V610E	probably damaging	Het
Nup160	T	G	2: 90,700,436	Y479*	probably null	Het
Oas1d	A	T	5: 120,919,962	D323V	possibly damaging	Het
Olfr125	A	G	17: 37,835,353	D118G	possibly damaging	Het
Olfr1338	A	G	4: 118,753,600	W315R	possibly damaging	Het
Olfr140	T	C	2: 90,051,784	Y180C	probably damaging	Het
Olfr147	G	A	9: 38,403,254	V127M	possibly damaging	Het
Olfr204	T	A	16: 59,314,706	R234*	probably null	Het
Olfr25	A	T	9: 38,330,507	T307S	probably benign	Het
Olfr677	C	A	7: 105,056,794	H183N	probably damaging	Het
Pcm1	T	A	8: 41,313,359	M1567K	possibly damaging	Het
Pdxk	A	G	10: 78,443,896	V215A	probably benign	Het
Phf12	T	A	11: 78,023,601	L74Q	probably damaging	Het
Plcg1	A	G	2: 160,753,743	E537G	probably null	Het
Plxna2	C	T	1: 194,644,370	P204L	possibly damaging	Het
Ppp3cb	T	G	14: 20,524,063	M236L	probably benign	Het
Qrsl1	A	T	10: 43,896,030	S55T	probably damaging	Het
Rbm5	T	C	9: 107,743,913		probably null	Het
Sipa1l2	A	G	8: 125,444,535	S1403P	probably damaging	Het
Sis	C	T	3: 72,965,604	C67Y	probably damaging	Het
Specc1	A	G	11: 62,128,392	I686V	possibly damaging	Het
Speg	G	A	1: 75,417,863	E1739K	probably benign	Het
Sprtn	C	A	8: 124,901,633	H154Q	probably damaging	Het
St7l	A	G	3: 104,870,987	T147A	probably benign	Het
Stab1	G	A	14: 31,146,028	Q1630*	probably null	Het
Stpg2	A	G	3: 139,232,199	D173G	probably benign	Het
Tcf20	G	A	15: 82,852,777	T1491I	probably benign	Het
Themis2	A	T	4: 132,789,649	I180N	possibly damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Ttn	C	T	2: 76,745,634	V24972M	probably damaging	Het
Ttn	A	G	2: 76,807,996	V13980A	probably damaging	Het
Usp5	A	T	6: 124,823,460	M286K	possibly damaging	Het
Vmn2r22	G	A	6: 123,637,843	R263C	possibly damaging	Het
Vmn2r71	T	G	7: 85,621,227	C534G	probably damaging	Het
Wdr60	T	C	12: 116,255,912	I137V	probably benign	Het
Wnk2	C	T	13: 49,060,726	S1460N	possibly damaging	Het
Zfp445	G	A	9: 122,852,642	P745S	probably damaging	Het
Zfp957	C	T	14: 79,213,996	G121D	probably damaging	Het
Zscan4f	A	G	7: 11,401,327	E220G	possibly damaging	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
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
R6276:4931406P16Rik	UTSW	7	34242377	nonsense	probably null
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
R9612:4931406P16Rik	UTSW	7	34248231	missense	probably damaging	1.00
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'- TGGCTACACTGCTTCCTGGCTATG -3'
(R):5'- AGAGCTTGGTCCTACTGAGAAACCC -3'

Sequencing Primer
(F):5'- TTCTCCAGCGGTTTAGGTCT -3'
(R):5'- cctgctgggactaaaagacac -3'

Posted On

2014-05-14