Mutagenetix > Incidental Mutations

Incidental Mutation 'R5192:Gm38100'

405081

Institutional Source

Beutler Lab

Gene Symbol

Gm38100

Ensembl Gene

ENSMUSG00000104158

Gene Name

predicted gene, 38100

Synonyms

MMRRC Submission

042768-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R5192 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

175920329-175922225 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 175920842 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 158 (D158G)

Ref Sequence

ENSEMBL: ENSMUSP00000144267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000194391] [ENSMUST00000201297]

Predicted Effect

probably benign
Transcript: ENSMUST00000194391
AA Change: D158G

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000144267
Gene: ENSMUSG00000104158
AA Change: D158G

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
Pfam:APG6	126	440	1.2e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201297
AA Change: D158G

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000143887
Gene: ENSMUSG00000104158
AA Change: D158G

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
Pfam:APG6	126	440	6.1e-95	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef25	A	G	10: 127,185,109	S303P	probably damaging	Het
Babam1	T	C	8: 71,404,253	V286A	probably damaging	Het
Cep192	T	C	18: 67,835,004	I853T	probably benign	Het
Cfap43	A	T	19: 47,825,925	W157R	probably damaging	Het
Dnah17	T	C	11: 118,034,359	T3883A	possibly damaging	Het
Dzip1	C	T	14: 118,911,393	M291I	probably damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Fam198a	T	G	9: 121,965,661	S294A	probably benign	Het
Fbxw19	T	C	9: 109,484,428	Y234C	probably benign	Het
Gm156	T	C	6: 129,771,758	T99A	probably benign	Het
Gm9988	T	C	8: 88,138,373		probably benign	Het
Gstm1	A	G	3: 108,014,943		probably null	Het
Hsfy2	T	A	1: 56,636,735	K214N	probably benign	Het
Kat6a	G	A	8: 22,911,713	R366H	probably damaging	Het
Kctd4	A	G	14: 75,962,687	T33A	probably benign	Het
March10	T	C	11: 105,371,926	H735R	possibly damaging	Het
Myo1g	T	C	11: 6,514,816	D486G	probably damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1176	A	G	2: 88,339,748	Y61C	possibly damaging	Het
Olfr906	T	C	9: 38,488,805	Y259H	possibly damaging	Het
Pif1	G	T	9: 65,588,092	A95S	probably benign	Het
Plppr2	T	C	9: 21,941,132	F104S	probably damaging	Het
Prep	T	C	10: 45,153,111	Y536H	probably benign	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Tmtc2	G	A	10: 105,190,177	P810L	probably damaging	Het
Tollip	C	T	7: 141,892,117	R9H	probably damaging	Het
Vmn2r57	A	T	7: 41,427,939	S268T	probably damaging	Het
Vps51	A	G	19: 6,070,467	V472A	possibly damaging	Het
Zfp608	C	A	18: 54,898,497	K790N	probably damaging	Het
Zfp661	A	G	2: 127,577,062	V386A	possibly damaging	Het

Other mutations in Gm38100

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3623:Gm38100	UTSW	1	175920631	missense	possibly damaging	0.88
R3922:Gm38100	UTSW	1	175921286	missense	probably benign	0.00
R3925:Gm38100	UTSW	1	175921286	missense	probably benign	0.00
R3926:Gm38100	UTSW	1	175921286	missense	probably benign	0.00
R5275:Gm38100	UTSW	1	175920770	missense	probably benign	0.07
R5666:Gm38100	UTSW	1	175921613	missense	probably damaging	1.00
R5670:Gm38100	UTSW	1	175921613	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCTCCATGAGAACTATGAAC -3'
(R):5'- AAACAGAGTACTCGACCCTGTG -3'

Sequencing Primer
(F):5'- TCCATGAGAACTATGAACACTATCC -3'
(R):5'- GACCCTGTGCTGCTCATG -3'

Posted On

2016-07-22