Mutagenetix > Incidental Mutation

Incidental Mutation 'R5802:Gm13178'

448776

Institutional Source

Beutler Lab

Gene Symbol

Gm13178

Ensembl Gene

ENSMUSG00000041735

Gene Name

predicted gene 13178

Synonyms

MMRRC Submission

043391-MU

Accession Numbers

Ncbi RefSeq: NM_001085536.1; MGI: 3650721

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5802 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144703191-144721404 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144703636 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 261 (D261V)

Ref Sequence

ENSEMBL: ENSMUSP00000045343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036876]

AlphaFold

B1AVU7

Predicted Effect

probably damaging
Transcript: ENSMUST00000036876
AA Change: D261V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000045343
Gene: ENSMUSG00000041735
AA Change: D261V

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC
transmembrane domain	43	60	N/A	INTRINSIC
low complexity region	79	84	N/A	INTRINSIC
Pfam:Abhydrolase_3	116	286	2.3e-27	PFAM
Pfam:Abhydrolase_3	287	382	8.8e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209924

Meta Mutation Damage Score

0.5852

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (63/65)

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,950,964	D383V	probably damaging	Het
Abca4	A	T	3: 122,054,232	L67F	probably damaging	Het
Abcc9	C	A	6: 142,656,676		probably null	Het
Atp2a3	T	C	11: 72,972,882	V175A	probably damaging	Het
B3galt4	T	A	17: 33,950,757	D169V	probably damaging	Het
Bsn	C	T	9: 108,113,009	R1848Q	possibly damaging	Het
Camkk2	T	C	5: 122,734,244	E90G	probably damaging	Het
Cdon	T	A	9: 35,454,420	I155N	probably damaging	Het
Cep70	A	G	9: 99,296,405	N519D	probably damaging	Het
Clgn	T	C	8: 83,425,614	S582P	probably damaging	Het
Cnga3	T	C	1: 37,260,925	F280S	probably damaging	Het
Dennd4c	C	T	4: 86,811,453	T764M	probably benign	Het
Dis3	A	T	14: 99,099,664	S4T	probably damaging	Het
Dlgap1	T	C	17: 70,766,091		probably null	Het
Dnah17	C	T	11: 118,036,446	V3839I	possibly damaging	Het
Dnajc1	A	G	2: 18,284,739	Y286H	probably benign	Het
Dynap	T	A	18: 70,241,002	D151V	unknown	Het
Ednrb	A	G	14: 103,821,714	F292S	probably damaging	Het
Eef1a1	A	G	9: 78,479,036	S396P	probably damaging	Het
Fancg	A	G	4: 43,006,582	F324S	probably benign	Het
Fbxw11	T	A	11: 32,711,790	S56T	probably benign	Het
Gm14409	T	C	2: 177,265,256	T150A	possibly damaging	Het
Gm17535	G	C	9: 3,035,758	V209L	probably benign	Homo
Gm20767	G	A	13: 120,154,913	S96N	possibly damaging	Het
Gm5592	C	T	7: 41,219,105		probably benign	Het
Gm7030	A	G	17: 36,111,287		probably benign	Het
Gpr137	C	T	19: 6,942,005	W51*	probably null	Het
Hbb-bs	T	C	7: 103,826,672	Y146C	probably damaging	Het
Herc1	G	T	9: 66,462,878	C2982F	probably damaging	Het
Hnrnpa3	T	A	2: 75,665,056	N309K	unknown	Het
Hydin	A	T	8: 110,452,060	I1096F	possibly damaging	Het
Klf12	A	G	14: 100,022,894	V133A	probably benign	Het
Lats2	A	T	14: 57,694,418	Y848N	probably damaging	Het
Loxl3	A	G	6: 83,049,289	T453A	possibly damaging	Het
Ltn1	T	G	16: 87,415,681	H664P	probably benign	Het
Lypd6	C	T	2: 50,173,601	T40I	probably benign	Het
Nbeal1	A	T	1: 60,272,221	T1817S	probably benign	Het
Nub1	A	C	5: 24,702,441	Y350S	possibly damaging	Het
Pbp2	A	G	6: 135,309,876	Y158H	possibly damaging	Het
Ptpru	C	T	4: 131,788,377	E827K	possibly damaging	Het
Rap1a	A	G	3: 105,745,936	Y32H	probably damaging	Het
Raph1	T	C	1: 60,488,673	N1143S	possibly damaging	Het
Rbl1	T	C	2: 157,161,433	T859A	probably benign	Het
Rom1	A	G	19: 8,928,824	L117P	probably damaging	Het
Senp6	T	C	9: 80,118,644		probably benign	Het
Sirpb1c	T	C	3: 15,832,076	M379V	probably benign	Het
Slc6a4	C	T	11: 77,019,236	T439M	probably damaging	Het
Srsf12	G	T	4: 33,230,929	R141L	probably damaging	Het
Stk10	C	T	11: 32,596,748	P335L	probably benign	Het
Tecpr1	A	T	5: 144,206,546	N670K	probably benign	Het
Tgds	T	C	14: 118,132,707	E8G	probably benign	Het
Tmem129	A	G	5: 33,657,716	S38P	probably damaging	Het
Trappc9	T	C	15: 72,685,339	E812G	probably damaging	Het
Trmt10b	T	A	4: 45,314,236		probably benign	Het
Wapl	A	G	14: 34,692,320	T380A	probably damaging	Het
Xylt1	A	T	7: 117,656,691	T829S	probably benign	Het
Zc3h6	C	T	2: 129,015,559	P666L	possibly damaging	Het
Zfp703	C	T	8: 26,979,205	P299L	probably damaging	Het

Other mutations in Gm13178

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:Gm13178	APN	4	144703693	missense	possibly damaging	0.87
IGL01985:Gm13178	APN	4	144715454	nonsense	probably null
IGL02587:Gm13178	APN	4	144703399	missense	possibly damaging	0.94
P0018:Gm13178	UTSW	4	144703197	missense	probably benign	0.00
R0395:Gm13178	UTSW	4	144703195	missense	probably benign	0.14
R1617:Gm13178	UTSW	4	144715391	missense	probably damaging	1.00
R3802:Gm13178	UTSW	4	144703504	missense	possibly damaging	0.82
R4409:Gm13178	UTSW	4	144721302	missense	possibly damaging	0.86
R4577:Gm13178	UTSW	4	144703753	missense	probably damaging	1.00
R4603:Gm13178	UTSW	4	144703228	missense	probably benign	0.00
R5069:Gm13178	UTSW	4	144703867	missense	probably damaging	1.00
R5801:Gm13178	UTSW	4	144703636	missense	probably damaging	1.00
R5893:Gm13178	UTSW	4	144703196	missense	probably benign
R6148:Gm13178	UTSW	4	144721317	missense	possibly damaging	0.89
R6466:Gm13178	UTSW	4	144703867	missense	probably damaging	1.00
R6655:Gm13178	UTSW	4	144705245	missense	probably damaging	1.00
R7006:Gm13178	UTSW	4	144721283	missense	probably benign	0.00
R7021:Gm13178	UTSW	4	144715492	missense	probably damaging	1.00
R7030:Gm13178	UTSW	4	144703603	missense	possibly damaging	0.85
R7514:Gm13178	UTSW	4	144703228	missense	possibly damaging	0.66
R7773:Gm13178	UTSW	4	144703477	missense	probably damaging	0.98
R7791:Gm13178	UTSW	4	144703445	missense	probably damaging	1.00
R8012:Gm13178	UTSW	4	144703402	missense	possibly damaging	0.48
R8082:Gm13178	UTSW	4	144715327	missense	probably damaging	1.00
R9250:Gm13178	UTSW	4	144715441	missense	probably benign	0.04
R9721:Gm13178	UTSW	4	144703372	missense	possibly damaging	0.94
Z1176:Gm13178	UTSW	4	144703325	missense	probably damaging	1.00
Z1177:Gm13178	UTSW	4	144703646	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- GTCTGGAAGTTGAGCAATGATC -3'
(R):5'- AGGCTTTGGTCAGTCAAGCC -3'

Sequencing Primer
(F):5'- GAGCAATGATCTTGTCATCTGC -3'
(R):5'- GGTCAGTCAAGCCATACTTCC -3'

Posted On

2016-12-15