Mutagenetix > Incidental Mutations

Incidental Mutation 'R0423:D17Wsu92e'

38611

Institutional Source

Beutler Lab

Gene Symbol

D17Wsu92e

Ensembl Gene

ENSMUSG00000056692

Gene Name

DNA segment, Chr 17, Wayne State University 92, expressed

Synonyms

MMRRC Submission

038625-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0423 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27751232-27820558 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 27786233 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 117 (Y117D)

Ref Sequence

ENSEMBL: ENSMUSP00000110513 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075076] [ENSMUST00000114859] [ENSMUST00000114863]

Predicted Effect

probably damaging
Transcript: ENSMUST00000075076
AA Change: Y117D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074585
Gene: ENSMUSG00000056692
AA Change: Y117D

Domain	Start	End	E-Value	Type
Pfam:UBA_4	25	68	1.6e-13	PFAM
Pfam:N_BRCA1_IG	80	179	1.6e-37	PFAM
low complexity region	257	276	N/A	INTRINSIC
low complexity region	282	291	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114859
AA Change: Y117D

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110509
Gene: ENSMUSG00000056692
AA Change: Y117D

Domain	Start	End	E-Value	Type
Pfam:UBA_4	25	69	5.1e-15	PFAM
PDB:4OLE\|D	74	180	2e-9	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000114863
AA Change: Y117D

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

SMART Domains

Protein: ENSMUSP00000110513
Gene: ENSMUSG00000056692
AA Change: Y117D

Domain	Start	End	E-Value	Type
Pfam:UBA_4	25	69	2.2e-14	PFAM
PDB:4OLE\|D	74	180	8e-9	PDB
low complexity region	257	276	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121414

Meta Mutation Damage Score

0.9087

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 91.9%

Validation Efficiency

99% (84/85)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007K13Rik	T	C	2: 28,466,024		probably benign	Het
4930432E11Rik	A	T	7: 29,562,400		noncoding transcript	Het
A630001G21Rik	A	G	1: 85,726,466	I50T	probably benign	Het
Abhd12	T	C	2: 150,838,392	T264A	possibly damaging	Het
Acsm3	T	C	7: 119,777,159	Y370H	probably damaging	Het
Ank2	G	T	3: 126,929,860	Y3789*	probably null	Het
Anxa4	C	T	6: 86,760,737	A1T	probably damaging	Het
Apba1	T	A	19: 23,944,998	V810D	probably damaging	Het
Bank1	A	G	3: 136,284,017	I104T	possibly damaging	Het
Birc6	T	C	17: 74,696,297	Y4721H	probably damaging	Het
Bmpr2	A	G	1: 59,868,510	T921A	probably benign	Het
Ccdc102a	A	C	8: 94,905,926		probably benign	Het
Ccdc141	C	A	2: 77,039,450	D904Y	probably damaging	Het
Ccdc96	A	G	5: 36,485,247	K199R	probably benign	Het
Cdh10	G	A	15: 18,986,879	V399I	probably benign	Het
Cenpk	A	G	13: 104,234,225	T85A	probably benign	Het
Col6a2	A	C	10: 76,614,917	V60G	possibly damaging	Het
Cops7b	A	G	1: 86,599,031	D119G	probably benign	Het
Cstf2t	A	G	19: 31,084,276	E404G	possibly damaging	Het
Ctnna2	A	T	6: 77,653,069	V134E	probably damaging	Het
Cwh43	A	C	5: 73,416,742	M250L	probably benign	Het
Daam2	T	A	17: 49,469,421	K813*	probably null	Het
Dhcr24	G	A	4: 106,586,536		probably benign	Het
Dnah8	G	T	17: 30,701,981	R1182L	probably benign	Het
Doc2a	C	T	7: 126,848,658	P25S	probably damaging	Het
Dst	A	G	1: 34,278,035	S6823G	possibly damaging	Het
Espl1	T	A	15: 102,303,986	L509*	probably null	Het
Fbxw19	C	T	9: 109,486,066	V143I	probably benign	Het
Fbxw5	A	G	2: 25,504,526	T171A	possibly damaging	Het
Gfra2	C	T	14: 70,896,081	T117M	probably damaging	Het
Gm454	T	A	5: 138,204,141		noncoding transcript	Het
Kcnq4	A	G	4: 120,717,508	S120P	probably damaging	Het
Krt84	A	T	15: 101,528,720	L336Q	probably damaging	Het
Lilra6	T	A	7: 3,914,775		probably benign	Het
Mbnl2	G	A	14: 120,325,324	R29H	probably damaging	Het
Mcm3ap	G	A	10: 76,502,705	G1389D	probably benign	Het
Mettl13	A	T	1: 162,544,385	I305N	probably damaging	Het
Muc6	A	G	7: 141,652,283	S30P	probably benign	Het
Myh7	T	A	14: 54,979,189	Q1237L	probably benign	Het
Myo9a	T	G	9: 59,895,336	D2035E	probably damaging	Het
Nat10	A	G	2: 103,748,227	S211P	probably damaging	Het
Ntm	T	C	9: 29,179,099	Y108C	probably damaging	Het
Olfr292	T	C	7: 86,695,226	Y257H	possibly damaging	Het
Olfr843	A	T	9: 19,248,952	L149*	probably null	Het
Pcdhb16	A	G	18: 37,480,369	D794G	probably benign	Het
Phlpp1	A	G	1: 106,339,615	T753A	probably benign	Het
Pnldc1	T	C	17: 12,890,076	Q511R	possibly damaging	Het
Ppip5k2	A	G	1: 97,761,427	S38P	possibly damaging	Het
Pygb	A	G	2: 150,823,984	K593E	probably benign	Het
Rangap1	A	T	15: 81,705,463	F564I	probably damaging	Het
Rictor	A	T	15: 6,773,900	I498F	possibly damaging	Het
Rnase12	A	T	14: 51,057,156	V22D	probably benign	Het
Rpl7l1	T	A	17: 46,780,398	M93L	probably benign	Het
Smg1	T	C	7: 118,176,880	R1396G	possibly damaging	Het
Snx19	C	A	9: 30,435,837	T692N	probably damaging	Het
Spag6	A	G	2: 18,710,593	D61G	probably benign	Het
Spen	T	A	4: 141,479,336	N660I	unknown	Het
Sptan1	T	G	2: 30,028,672	C2246G	probably null	Het
Svopl	A	G	6: 38,036,707		probably benign	Het
Taf2	A	T	15: 55,064,682	N108K	probably benign	Het
Thbs4	T	C	13: 92,756,571	D703G	probably damaging	Het
Tle6	G	T	10: 81,598,623	N47K	possibly damaging	Het
Usp48	G	T	4: 137,616,411	V452L	probably benign	Het
Ust	A	T	10: 8,298,148	S198T	probably damaging	Het
Wnk2	T	A	13: 49,095,418	M386L	possibly damaging	Het
Ywhaq	T	C	12: 21,391,381		probably benign	Het
Zfp11	C	T	5: 129,658,238	G53E	possibly damaging	Het
Zfp316	A	G	5: 143,253,238	S1009P	probably damaging	Het
Zfp963	A	G	8: 69,744,506	Y29H	probably damaging	Het
Zmym4	A	G	4: 126,882,319		probably benign	Het
Zranb3	A	G	1: 128,091,870	I45T	probably damaging	Het

Other mutations in D17Wsu92e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:D17Wsu92e	APN	17	27767919	missense	probably damaging	1.00
IGL01107:D17Wsu92e	APN	17	27786069	critical splice donor site	probably null
IGL01805:D17Wsu92e	APN	17	27767906	splice site	probably benign
detroit	UTSW	17	27794070	splice site	probably null
michigander	UTSW	17	27767986	missense	probably benign	0.12
R0833:D17Wsu92e	UTSW	17	27786138	missense	probably damaging	1.00
R0836:D17Wsu92e	UTSW	17	27786138	missense	probably damaging	1.00
R1055:D17Wsu92e	UTSW	17	27767936	missense	probably damaging	1.00
R1251:D17Wsu92e	UTSW	17	27786070	critical splice donor site	probably null
R1646:D17Wsu92e	UTSW	17	27793960	missense	probably damaging	1.00
R4022:D17Wsu92e	UTSW	17	27786262	missense	probably damaging	0.97
R4604:D17Wsu92e	UTSW	17	27820315	missense	probably damaging	1.00
R5360:D17Wsu92e	UTSW	17	27794046	missense	probably damaging	1.00
R6210:D17Wsu92e	UTSW	17	27767986	missense	probably benign	0.12
R7201:D17Wsu92e	UTSW	17	27794070	splice site	probably null
R7994:D17Wsu92e	UTSW	17	27767943	missense	probably benign
R8057:D17Wsu92e	UTSW	17	27767889	missense	unknown
R8767:D17Wsu92e	UTSW	17	27768069	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CACTGCATTGTACGCAATGGCTTC -3'
(R):5'- ACAGTTCTCTGTGCTGAGTGACCC -3'

Sequencing Primer
(F):5'- CTAAGGAGGTGCTGTCCGAAC -3'
(R):5'- CTGAGTGACCCGAGACAGTATTAG -3'

Posted On

2013-05-23