Mutagenetix > Incidental Mutation

Incidental Mutation 'R8934:Gm5114'

680517

Institutional Source

Beutler Lab

Gene Symbol

Gm5114

Ensembl Gene

ENSMUSG00000053742

Gene Name

predicted gene 5114

Synonyms

MMRRC Submission

068777-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R8934 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39407294-39413160 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39411129 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 99 (W99R)

Ref Sequence

ENSEMBL: ENSMUSP00000103652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108017]

AlphaFold

W4VSN8

Predicted Effect

probably benign
Transcript: ENSMUST00000108017
AA Change: W99R

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103652
Gene: ENSMUSG00000053742
AA Change: W99R

Domain	Start	End	E-Value	Type
Pfam:DUF4629	435	580	2.5e-65	PFAM
low complexity region	709	726	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	A	14: 32,660,657	S1117L	possibly damaging	Het
Abce1	A	G	8: 79,703,032	Y87H	probably damaging	Het
Adad2	G	A	8: 119,614,796		probably benign	Het
Adamts12	A	G	15: 11,299,929	T901A	probably damaging	Het
Adamts18	T	A	8: 113,736,878	I779F	possibly damaging	Het
Bod1l	T	C	5: 41,819,601	T1457A	probably benign	Het
Brat1	T	C	5: 140,710,249	V125A	probably benign	Het
C4b	G	A	17: 34,732,984	R1296C	possibly damaging	Het
C5ar1	A	T	7: 16,248,477	L206Q	probably damaging	Het
Cfap126	A	G	1: 171,126,121	T87A	probably benign	Het
Cnot1	A	T	8: 95,765,067	N376K	probably benign	Het
Cyp3a44	A	T	5: 145,794,976	I120K	possibly damaging	Het
Ddx17	T	C	15: 79,536,016	E384G	possibly damaging	Het
Dnah14	T	C	1: 181,622,723	S634P	possibly damaging	Het
Dusp16	A	T	6: 134,741,676		probably benign	Het
Eml2	G	A	7: 19,179,813	R185H	probably damaging	Het
Epdr1	T	C	13: 19,593,180	E216G	possibly damaging	Het
Erv3	T	C	2: 131,856,181	H86R	probably benign	Het
Fam69b	G	A	2: 26,634,854	V89M	possibly damaging	Het
Gm13119	C	T	4: 144,363,775	L462F	possibly damaging	Het
Grid1	G	A	14: 35,321,707	D340N	probably damaging	Het
Hfe2	T	G	3: 96,526,593	C27G	probably damaging	Het
Ifrd2	T	C	9: 107,592,270		probably benign	Het
Ikbkb	T	C	8: 22,660,391	*758W	probably null	Het
Il1rap	T	C	16: 26,676,984	C114R	probably damaging	Het
Irf6	T	C	1: 193,162,725	I168T	probably benign	Het
Kmt2d	T	C	15: 98,861,886	I1164V	unknown	Het
Lamb3	T	C	1: 193,338,860	L915P	probably damaging	Het
Lca5	T	C	9: 83,391,856		probably benign	Het
Lhx3	C	A	2: 26,202,246	R211L	probably damaging	Het
Mettl8	T	C	2: 71,051,718		probably benign	Het
Mroh1	T	C	15: 76,450,186	S1297P	probably benign	Het
Myh14	T	A	7: 44,657,428	T232S	probably benign	Het
Nemp2	T	A	1: 52,649,709	F377L	probably damaging	Het
Obscn	A	G	11: 58,998,259		probably null	Het
Olfr1272	T	A	2: 90,282,012	T188S	probably benign	Het
Olfr615	T	C	7: 103,561,083	V202A	probably benign	Het
Pgbd5	A	C	8: 124,384,259	V231G	possibly damaging	Het
Pitrm1	T	C	13: 6,556,630	L240P	probably benign	Het
Pkhd1	A	G	1: 20,392,010		probably null	Het
Ppp2r5a	T	A	1: 191,368,638		probably benign	Het
Prss30	C	T	17: 23,973,654	C147Y	probably damaging	Het
Ptpru	C	T	4: 131,818,986	V318M	probably damaging	Het
Rpap1	C	T	2: 119,769,249		probably null	Het
Rptn	A	G	3: 93,395,912	Q184R	probably benign	Het
Rufy1	T	A	11: 50,407,878	Q362L	probably benign	Het
Rundc1	A	G	11: 101,431,501	K274E	probably damaging	Het
Shroom3	T	A	5: 92,941,725	I778K	probably damaging	Het
Slamf6	C	T	1: 171,917,771	L22F	possibly damaging	Het
St7l	A	G	3: 104,889,318	E249G	probably damaging	Het
Tmem237	T	C	1: 59,114,179	N61S	probably benign	Het
Tyk2	T	C	9: 21,127,120		probably benign	Het
Ubtf	G	T	11: 102,314,029	P115T	probably damaging	Het
Vmn2r70	T	A	7: 85,561,980	I508F	possibly damaging	Het
Zfp609	C	T	9: 65,703,279	A801T	possibly damaging	Het
Zfp663	A	T	2: 165,352,794	C502S	probably damaging	Het

Other mutations in Gm5114

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Gm5114	APN	7	39410647	splice site	probably benign
IGL01295:Gm5114	APN	7	39407817	missense	probably damaging	1.00
IGL01349:Gm5114	APN	7	39409107	missense	probably benign
IGL01633:Gm5114	APN	7	39408066	missense	probably benign
IGL01634:Gm5114	APN	7	39408647	missense	probably benign
IGL02072:Gm5114	APN	7	39411402	missense	probably benign	0.00
FR4304:Gm5114	UTSW	7	39411105	missense	probably benign
FR4304:Gm5114	UTSW	7	39411106	missense	probably benign	0.00
R0034:Gm5114	UTSW	7	39408858	missense	possibly damaging	0.83
R0127:Gm5114	UTSW	7	39408456	missense	probably benign	0.00
R0328:Gm5114	UTSW	7	39408461	missense	probably damaging	1.00
R0387:Gm5114	UTSW	7	39408809	missense	probably benign	0.15
R0693:Gm5114	UTSW	7	39408764	missense	probably benign	0.00
R1006:Gm5114	UTSW	7	39409086	missense	probably damaging	1.00
R2039:Gm5114	UTSW	7	39409188	missense	probably damaging	1.00
R3433:Gm5114	UTSW	7	39409197	missense	probably benign	0.02
R3834:Gm5114	UTSW	7	39408737	missense	possibly damaging	0.69
R4320:Gm5114	UTSW	7	39407627	missense	probably damaging	1.00
R5214:Gm5114	UTSW	7	39408368	missense	probably benign	0.19
R5443:Gm5114	UTSW	7	39408865	missense	probably benign	0.00
R5471:Gm5114	UTSW	7	39409110	nonsense	probably null
R5707:Gm5114	UTSW	7	39411276	missense	probably benign	0.01
R6129:Gm5114	UTSW	7	39408600	missense	possibly damaging	0.71
R6234:Gm5114	UTSW	7	39409344	missense	probably benign	0.19
R6326:Gm5114	UTSW	7	39408155	missense	probably benign
R6443:Gm5114	UTSW	7	39407717	missense	possibly damaging	0.91
R6530:Gm5114	UTSW	7	39408090	missense	probably damaging	1.00
R6743:Gm5114	UTSW	7	39408573	missense	probably benign	0.42
R6770:Gm5114	UTSW	7	39408543	missense	possibly damaging	0.94
R6885:Gm5114	UTSW	7	39408156	missense	probably benign	0.01
R6980:Gm5114	UTSW	7	39409200	missense	probably benign	0.01
R7100:Gm5114	UTSW	7	39408284	missense	possibly damaging	0.52
R7215:Gm5114	UTSW	7	39411371	missense	probably benign	0.02
R7254:Gm5114	UTSW	7	39408966	missense	probably benign	0.35
R7343:Gm5114	UTSW	7	39408756	missense	probably damaging	1.00
R7366:Gm5114	UTSW	7	39409344	missense	possibly damaging	0.69
R7474:Gm5114	UTSW	7	39407980	missense	probably benign	0.01
R7499:Gm5114	UTSW	7	39409065	missense	possibly damaging	0.55
R8022:Gm5114	UTSW	7	39409376	missense	probably benign
R8121:Gm5114	UTSW	7	39408128	missense	probably benign	0.15
R8201:Gm5114	UTSW	7	39410949	missense	probably damaging	0.98
R8212:Gm5114	UTSW	7	39411252	missense	probably benign	0.18
R8321:Gm5114	UTSW	7	39410849	missense	possibly damaging	0.85
R8725:Gm5114	UTSW	7	39411233	missense	probably benign	0.17
R8752:Gm5114	UTSW	7	39408503	missense	probably damaging	0.99
R8891:Gm5114	UTSW	7	39408294	missense	probably benign	0.05
R8969:Gm5114	UTSW	7	39409308	missense	probably damaging	1.00
R9158:Gm5114	UTSW	7	39411062	missense	probably damaging	0.97
R9419:Gm5114	UTSW	7	39408116	missense	possibly damaging	0.92
R9453:Gm5114	UTSW	7	39408818	missense	probably damaging	0.99
Z1088:Gm5114	UTSW	7	39408447	missense	probably damaging	1.00
Z1177:Gm5114	UTSW	7	39409326	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GAAGGTGCCAGGCTGTATTC -3'
(R):5'- TCTCCACCCCAGATGTGAGTTC -3'

Sequencing Primer
(F):5'- TGTGACCTGGACAAAGCTG -3'
(R):5'- ACCCCAGATGTGAGTTCAGCATG -3'

Posted On

2021-08-31