Mutagenetix > Incidental Mutation

Incidental Mutation 'R7791:Gm13178'

599866

Institutional Source

Beutler Lab

Gene Symbol

Gm13178

Ensembl Gene

ENSMUSG00000041735

Gene Name

predicted gene 13178

Synonyms

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_001085536.1; MGI: 3650721

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R7791 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144703191-144721404 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144703445 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 325 (S325P)

Ref Sequence

ENSEMBL: ENSMUSP00000045343 (fasta)

Gene Model

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

AlphaFold

B1AVU7

Predicted Effect

probably damaging
Transcript: ENSMUST00000036876
AA Change: S325P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045343
Gene: ENSMUSG00000041735
AA Change: S325P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (51/51)

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	T	13: 59,690,694	M108K	probably benign	Het
Adamts9	A	T	6: 92,872,385	V1031D	probably benign	Het
Agap3	C	T	5: 24,476,413	R122C	probably damaging	Het
Arhgap27	A	G	11: 103,339,194		probably null	Het
Atp1a2	T	A	1: 172,276,215	I950F	probably benign	Het
Bahcc1	T	G	11: 120,268,377	H143Q	probably damaging	Het
Bcl7b	T	A	5: 135,171,114	D40E	probably damaging	Het
C9	C	T	15: 6,489,878	R399C	possibly damaging	Het
Capn13	T	C	17: 73,382,888	I43V	possibly damaging	Het
Ctcf	A	G	8: 105,664,939	T289A	possibly damaging	Het
Cux2	T	C	5: 121,867,099	N1008S	probably benign	Het
Dst	T	A	1: 34,154,592	M294K	probably damaging	Het
Eml4	G	T	17: 83,473,706	D778Y	probably benign	Het
Exoc3l4	A	C	12: 111,423,540	D183A	probably damaging	Het
Eya4	A	T	10: 23,113,926	S511T	probably damaging	Het
Fbrsl1	T	C	5: 110,448,019	H50R	probably benign	Het
Gemin5	G	A	11: 58,124,993	P1396S	probably benign	Het
Gnb4	A	G	3: 32,590,043	F151L	possibly damaging	Het
Gnptab	A	G	10: 88,440,222		probably null	Het
Gpbp1l1	T	A	4: 116,574,420	W92R	probably damaging	Het
Gucy1b1	A	T	3: 82,035,397	Y479*	probably null	Het
Htr3a	T	A	9: 48,901,575	Q188L	possibly damaging	Het
Ighv5-9-1	A	G	12: 113,736,545	F18S	probably damaging	Het
Loxhd1	A	G	18: 77,383,729	T1004A	probably damaging	Het
Mansc4	G	A	6: 147,081,544	L132F	unknown	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mtor	G	T	4: 148,462,940	R460L	probably benign	Het
Mtus1	A	T	8: 41,083,380	F433Y	possibly damaging	Het
Myoc	T	C	1: 162,649,121	Y465H	probably damaging	Het
N4bp1	A	G	8: 86,853,203	V657A	probably damaging	Het
Ndufv1	A	T	19: 4,011,533		probably null	Het
Nectin1	T	C	9: 43,792,039	I198T	probably benign	Het
Olfr239	T	A	17: 33,199,352	C101*	probably null	Het
Olfr44	T	C	9: 39,484,881	D124G	probably damaging	Het
Padi2	C	T	4: 140,917,596	T47I	probably benign	Het
Pdia4	A	T	6: 47,807,122	I116N	probably damaging	Het
Pkdrej	T	A	15: 85,815,931	I1935L	possibly damaging	Het
Pnpla7	C	A	2: 25,052,066	A1173D	probably damaging	Het
Ralgapa1	A	T	12: 55,741,519	L593Q	probably damaging	Het
Scn5a	A	G	9: 119,543,336	S231P	possibly damaging	Het
Slc13a2	A	G	11: 78,422,064		probably null	Het
Spdl1	A	G	11: 34,813,477	S510P	possibly damaging	Het
Tbxa2r	G	T	10: 81,334,706	*342L	probably null	Het
Tfrc	A	G	16: 32,619,167	K346R	probably benign	Het
Tmem52b	A	G	6: 129,513,003		probably benign	Het
Tsc1	T	C	2: 28,681,948	F844L	probably damaging	Het
Ttc39a	A	G	4: 109,426,347	N158S	probably benign	Het
Ulk4	C	T	9: 121,263,668	E168K	possibly damaging	Het
Vgf	T	C	5: 137,032,031	L349P	unknown	Het
Vil1	T	C	1: 74,428,136	Y681H	probably damaging	Het
Zfp654	A	G	16: 64,783,271	*572R	probably null	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
R5802: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
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'- TTTAAAACATTCATGGAGCAGGGG -3'
(R):5'- AATGCCATAGTGACAGGAGC -3'

Sequencing Primer
(F):5'- GGCTGCTTATCAAACAAACTGATGC -3'
(R):5'- ACAGGAGCTTTTGTGCCC -3'

Posted On

2019-11-26