Mutagenetix > Incidental Mutation

Incidental Mutation 'R0395:Gm13178'

65429

Institutional Source

Beutler Lab

Gene Symbol

Gm13178

Ensembl Gene

ENSMUSG00000041735

Gene Name

predicted gene 13178

Synonyms

MMRRC Submission

038601-MU

Accession Numbers

Ncbi RefSeq: NM_001085536.1; MGI: 3650721

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R0395 (G1)

Quality Score

159

Status

Validated

Chromosome

Chromosomal Location

144703191-144721404 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144703195 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 408 (V408A)

Ref Sequence

ENSEMBL: ENSMUSP00000045343 (fasta)

Gene Model

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

AlphaFold

B1AVU7

Predicted Effect

probably benign
Transcript: ENSMUST00000036876
AA Change: V408A

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000045343
Gene: ENSMUSG00000041735
AA Change: V408A

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 91.4%

Validation Efficiency

98% (103/105)

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	T	C	13: 59,689,656 (GRCm38)	K205R	possibly damaging	Het
9630041A04Rik	A	T	9: 101,942,735 (GRCm38)	N118I	probably damaging	Het
Acsm2	G	A	7: 119,575,746 (GRCm38)	D245N	probably damaging	Het
Adgrv1	A	T	13: 81,385,953 (GRCm38)	H5836Q	probably benign	Het
Ahcyl2	T	C	6: 29,886,168 (GRCm38)	V391A	probably damaging	Het
Alcam	A	T	16: 52,309,864 (GRCm38)	M41K	probably benign	Het
Aldh3b3	A	C	19: 3,966,472 (GRCm38)	E363D	probably benign	Het
Alk	A	G	17: 72,603,531 (GRCm38)	V60A	probably damaging	Het
Als2cl	G	A	9: 110,898,084 (GRCm38)	R906H	probably damaging	Het
Ap5z1	T	C	5: 142,470,562 (GRCm38)		probably benign	Het
Apba2	T	A	7: 64,743,408 (GRCm38)	I547N	probably benign	Het
Apol10b	A	T	15: 77,585,640 (GRCm38)	D112E	probably damaging	Het
Ash1l	C	A	3: 89,058,589 (GRCm38)	R2433S	probably damaging	Het
Cachd1	T	C	4: 100,953,205 (GRCm38)	F335L	probably damaging	Het
Cbfa2t3	G	T	8: 122,638,951 (GRCm38)	Q181K	probably benign	Het
Cct6b	A	G	11: 82,739,680 (GRCm38)	M265T	probably benign	Het
Cd151	G	A	7: 141,470,391 (GRCm38)	V180I	probably damaging	Het
Ces1h	T	A	8: 93,357,078 (GRCm38)	N412I	unknown	Het
Chmp7	T	C	14: 69,732,456 (GRCm38)	T12A	probably benign	Het
Clasp1	A	G	1: 118,539,331 (GRCm38)	T534A	possibly damaging	Het
Cldn15	T	A	5: 136,968,198 (GRCm38)	V31E	possibly damaging	Het
Col16a1	G	A	4: 130,073,109 (GRCm38)	G583D	probably damaging	Het
Csmd1	T	C	8: 16,346,638 (GRCm38)	N426S	probably damaging	Het
Dapp1	C	T	3: 137,935,637 (GRCm38)	C199Y	possibly damaging	Het
Dchs1	A	G	7: 105,758,538 (GRCm38)	L2029P	probably damaging	Het
Diexf	T	C	1: 193,123,676 (GRCm38)	E187G	possibly damaging	Het
Dmc1	A	G	15: 79,588,772 (GRCm38)	F158S	probably damaging	Het
Dst	C	T	1: 34,189,119 (GRCm38)	P1606L	probably damaging	Het
Dthd1	T	A	5: 62,814,333 (GRCm38)	N166K	possibly damaging	Het
Enam	A	T	5: 88,501,508 (GRCm38)	Y292F	probably damaging	Het
Esrrg	A	T	1: 188,198,635 (GRCm38)	I285F	probably damaging	Het
Fam19a2	A	T	10: 123,593,592 (GRCm38)	H37L	probably benign	Het
Fam50b	A	G	13: 34,747,237 (GRCm38)	D232G	probably damaging	Het
Fam91a1	T	A	15: 58,454,792 (GRCm38)	S792T	probably benign	Het
Fbxw22	A	C	9: 109,381,685 (GRCm38)	C419W	probably damaging	Het
Flt4	G	A	11: 49,630,343 (GRCm38)	S393N	probably benign	Het
Fras1	A	T	5: 96,769,653 (GRCm38)	T3511S	possibly damaging	Het
Frat2	A	C	19: 41,847,824 (GRCm38)	S30A	probably damaging	Het
Glp1r	T	A	17: 30,936,338 (GRCm38)	M433K	probably benign	Het
Gm10300	G	A	4: 132,074,988 (GRCm38)		probably benign	Het
Gm684	C	T	9: 51,280,534 (GRCm38)		probably benign	Het
Gpatch4	A	G	3: 88,054,354 (GRCm38)		probably benign	Het
Gpr22	A	T	12: 31,709,462 (GRCm38)	S220R	possibly damaging	Het
Grn	T	C	11: 102,436,223 (GRCm38)	V549A	probably benign	Het
Gtf3c5	T	C	2: 28,577,918 (GRCm38)	D177G	probably damaging	Het
Htr1b	A	T	9: 81,631,651 (GRCm38)	M301K	probably benign	Het
Ifi207	A	T	1: 173,729,865 (GRCm38)	S436T	possibly damaging	Het
Ifnb1	A	T	4: 88,522,529 (GRCm38)	N82K	possibly damaging	Het
Ina	T	G	19: 47,021,919 (GRCm38)	N384K	probably damaging	Het
Kirrel2	T	C	7: 30,450,458 (GRCm38)	N541D	possibly damaging	Het
Lrp2	A	T	2: 69,433,077 (GRCm38)	I4377N	possibly damaging	Het
Lrrc37a	A	G	11: 103,464,395 (GRCm38)	V2532A	unknown	Het
Mast4	T	C	13: 102,735,273 (GRCm38)	E2529G	probably damaging	Het
Myh6	T	C	14: 54,946,320 (GRCm38)	H1719R	possibly damaging	Het
Myo5a	A	T	9: 75,193,977 (GRCm38)	H150L	probably benign	Het
Naglu	C	T	11: 101,074,107 (GRCm38)		probably benign	Het
Nags	G	A	11: 102,145,704 (GRCm38)	A40T	unknown	Het
Nav1	A	T	1: 135,532,623 (GRCm38)	Y321N	probably damaging	Het
Nav1	G	T	1: 135,532,621 (GRCm38)	Y321*	probably null	Het
Neu3	C	T	7: 99,813,778 (GRCm38)	S246N	probably benign	Het
Npy5r	C	T	8: 66,681,973 (GRCm38)	G56D	probably benign	Het
Nrxn1	A	G	17: 91,088,314 (GRCm38)	V138A	possibly damaging	Het
Nuggc	C	T	14: 65,613,472 (GRCm38)	Q264*	probably null	Het
Ogfod1	G	A	8: 94,063,528 (GRCm38)		probably null	Het
Olfr108	T	A	17: 37,445,866 (GRCm38)	F115Y	probably damaging	Het
Olfr1453	A	G	19: 13,028,299 (GRCm38)	F10S	probably damaging	Het
Olfr315	A	T	11: 58,778,369 (GRCm38)	M81L	probably benign	Het
Olfr490	A	G	7: 108,286,271 (GRCm38)	V285A	probably benign	Het
Per1	T	A	11: 69,102,277 (GRCm38)	I340N	probably damaging	Het
Pkhd1	C	T	1: 20,381,547 (GRCm38)	A2175T	probably benign	Het
Pogk	A	G	1: 166,403,602 (GRCm38)	V52A	probably damaging	Het
Ppib	A	T	9: 66,066,319 (GRCm38)	T185S	possibly damaging	Het
Ptar1	G	T	19: 23,720,199 (GRCm38)	M358I	probably damaging	Het
Qser1	A	C	2: 104,762,881 (GRCm38)	I1597S	probably damaging	Het
Ranbp17	T	C	11: 33,474,896 (GRCm38)	I487V	probably benign	Het
Repin1	C	A	6: 48,597,525 (GRCm38)	R460S	probably damaging	Het
Sfmbt1	T	C	14: 30,787,617 (GRCm38)		probably benign	Het
Sh3rf1	C	T	8: 61,393,662 (GRCm38)		probably benign	Het
Shroom3	C	T	5: 92,780,903 (GRCm38)	R106C	probably damaging	Het
Siglecf	T	A	7: 43,355,975 (GRCm38)	V453D	probably damaging	Het
Slc2a9	A	G	5: 38,453,169 (GRCm38)	S96P	probably damaging	Het
Slc5a2	A	G	7: 128,267,482 (GRCm38)	Y124C	probably damaging	Het
Slf1	A	G	13: 77,105,969 (GRCm38)		probably benign	Het
Smad1	T	G	8: 79,349,782 (GRCm38)	K269T	probably benign	Het
Srp54b	G	A	12: 55,250,099 (GRCm38)	R194H	probably damaging	Het
St8sia6	T	A	2: 13,665,436 (GRCm38)	S238C	probably damaging	Het
Stat3	A	T	11: 100,889,937 (GRCm38)		probably benign	Het
Tas1r2	T	A	4: 139,655,354 (GRCm38)	M101K	possibly damaging	Het
Tesc	A	G	5: 118,053,582 (GRCm38)		probably null	Het
Tle3	T	A	9: 61,410,071 (GRCm38)	M334K	probably damaging	Het
Tmem151a	A	T	19: 5,082,233 (GRCm38)	V315E	probably damaging	Het
Tmprss2	T	C	16: 97,567,045 (GRCm38)	D480G	probably damaging	Het
Trmt1	C	A	8: 84,697,112 (GRCm38)		probably null	Het
Tsr3	T	C	17: 25,242,224 (GRCm38)		probably null	Het
Ube2u	A	G	4: 100,481,648 (GRCm38)	K37E	probably benign	Het
Usp16	T	A	16: 87,475,446 (GRCm38)	D382E	probably damaging	Het
Usp9y	A	T	Y: 1,340,053 (GRCm38)	F1442Y	probably damaging	Het
Utp20	A	T	10: 88,818,595 (GRCm38)	M210K	probably damaging	Het
V1ra8	C	T	6: 90,203,009 (GRCm38)	L65F	possibly damaging	Het
Vmn2r10	T	C	5: 109,001,993 (GRCm38)	N395S	probably damaging	Het
Vmn2r100	C	A	17: 19,522,120 (GRCm38)	P252Q	possibly damaging	Het
Zfp217	C	T	2: 170,115,462 (GRCm38)	A539T	probably benign	Het
Zfp330	G	A	8: 82,764,882 (GRCm38)	Q221*	probably null	Het

Other mutations in Gm13178

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:Gm13178	APN	4	144,703,693 (GRCm38)	missense	possibly damaging	0.87
IGL01985:Gm13178	APN	4	144,715,454 (GRCm38)	nonsense	probably null
IGL02587:Gm13178	APN	4	144,703,399 (GRCm38)	missense	possibly damaging	0.94
P0018:Gm13178	UTSW	4	144,703,197 (GRCm38)	missense	probably benign	0.00
R1617:Gm13178	UTSW	4	144,715,391 (GRCm38)	missense	probably damaging	1.00
R3802:Gm13178	UTSW	4	144,703,504 (GRCm38)	missense	possibly damaging	0.82
R4409:Gm13178	UTSW	4	144,721,302 (GRCm38)	missense	possibly damaging	0.86
R4577:Gm13178	UTSW	4	144,703,753 (GRCm38)	missense	probably damaging	1.00
R4603:Gm13178	UTSW	4	144,703,228 (GRCm38)	missense	probably benign	0.00
R5069:Gm13178	UTSW	4	144,703,867 (GRCm38)	missense	probably damaging	1.00
R5801:Gm13178	UTSW	4	144,703,636 (GRCm38)	missense	probably damaging	1.00
R5802:Gm13178	UTSW	4	144,703,636 (GRCm38)	missense	probably damaging	1.00
R5893:Gm13178	UTSW	4	144,703,196 (GRCm38)	missense	probably benign
R6148:Gm13178	UTSW	4	144,721,317 (GRCm38)	missense	possibly damaging	0.89
R6466:Gm13178	UTSW	4	144,703,867 (GRCm38)	missense	probably damaging	1.00
R6655:Gm13178	UTSW	4	144,705,245 (GRCm38)	missense	probably damaging	1.00
R7006:Gm13178	UTSW	4	144,721,283 (GRCm38)	missense	probably benign	0.00
R7021:Gm13178	UTSW	4	144,715,492 (GRCm38)	missense	probably damaging	1.00
R7030:Gm13178	UTSW	4	144,703,603 (GRCm38)	missense	possibly damaging	0.85
R7514:Gm13178	UTSW	4	144,703,228 (GRCm38)	missense	possibly damaging	0.66
R7773:Gm13178	UTSW	4	144,703,477 (GRCm38)	missense	probably damaging	0.98
R7791:Gm13178	UTSW	4	144,703,445 (GRCm38)	missense	probably damaging	1.00
R8012:Gm13178	UTSW	4	144,703,402 (GRCm38)	missense	possibly damaging	0.48
R8082:Gm13178	UTSW	4	144,715,327 (GRCm38)	missense	probably damaging	1.00
R9250:Gm13178	UTSW	4	144,715,441 (GRCm38)	missense	probably benign	0.04
R9721:Gm13178	UTSW	4	144,703,372 (GRCm38)	missense	possibly damaging	0.94
Z1176:Gm13178	UTSW	4	144,703,325 (GRCm38)	missense	probably damaging	1.00
Z1177:Gm13178	UTSW	4	144,703,646 (GRCm38)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- GAACATTTGCCATTGGAGGGCAAC -3'
(R):5'- ATTCCATCCCGAGTTTCTGGGACC -3'

Sequencing Primer
(F):5'- TGGAGGGCAACAATATAATTTATAGC -3'
(R):5'- CAGACACATTTCTGGTGAGC -3'

Posted On

2013-08-08