Mutagenetix > Incidental Mutations

Incidental Mutation 'R5670:Gm38100'

442547

Institutional Source

Beutler Lab

Gene Symbol

Gm38100

Ensembl Gene

ENSMUSG00000104158

Gene Name

predicted gene, 38100

Synonyms

MMRRC Submission

043313-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5670 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

175920329-175922225 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 175921613 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 415 (T415M)

Ref Sequence

ENSEMBL: ENSMUSP00000143887 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000194391
AA Change: T415M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144267
Gene: ENSMUSG00000104158
AA Change: T415M

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 damaging
Transcript: ENSMUST00000201297
AA Change: T415M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143887
Gene: ENSMUSG00000104158
AA Change: T415M

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	T	C	5: 99,979,209		probably benign	Het
Ahsg	T	A	16: 22,898,163	N158K	probably benign	Het
Arhgef10	T	C	8: 14,954,774	M430T	probably benign	Het
Bmper	T	A	9: 23,473,463	M588K	probably damaging	Het
Btla	A	T	16: 45,250,419	D247V	probably damaging	Het
C87977	A	G	4: 144,209,622	S23P	probably benign	Het
Cap2	T	A	13: 46,531,083		probably null	Het
Chd2	A	T	7: 73,441,717	I1592K	probably benign	Het
Col4a4	A	G	1: 82,485,579		probably null	Het
Copg1	C	T	6: 87,912,235	T853M	probably damaging	Het
Ddb2	C	T	2: 91,212,581	V353M	probably damaging	Het
Dip2b	A	G	15: 100,190,104	D973G	possibly damaging	Het
Dscam	G	A	16: 96,718,164	T791I	probably benign	Het
Dtd2	T	A	12: 51,999,860	L65F	probably damaging	Het
Fer1l6	C	T	15: 58,622,482	P1175S	probably benign	Het
Fzd6	A	T	15: 39,031,115	R225S	probably benign	Het
Glce	A	G	9: 62,060,511	S453P	probably damaging	Het
Gm4787	G	A	12: 81,378,031	T451I	probably benign	Het
Igkv8-18	C	T	6: 70,356,149	T25I	probably benign	Het
Ikzf2	A	G	1: 69,577,900	V96A	probably benign	Het
Ilkap	T	C	1: 91,391,141	T38A	probably benign	Het
Lpin3	A	G	2: 160,897,330	T353A	probably benign	Het
Mfsd8	A	T	3: 40,822,049	N389K	probably benign	Het
Mttp	A	T	3: 138,125,113	V65D	probably damaging	Het
Ndufaf4	A	T	4: 24,898,636	D64V	probably damaging	Het
Nfe2l2	T	C	2: 75,677,118	T213A	probably benign	Het
Nkain4	A	G	2: 180,943,202	L73P	probably damaging	Het
Nwd1	T	A	8: 72,693,117	S977T	probably damaging	Het
Olfr1271	T	C	2: 90,265,964	I155M	probably benign	Het
Olfr1389	T	G	11: 49,431,208	L244R	probably damaging	Het
Olfr173	G	A	16: 58,797,061	P262S	possibly damaging	Het
Olfr365	T	A	2: 37,201,994	V251D	probably benign	Het
Pdgfra	T	C	5: 75,173,495	S410P	probably benign	Het
Phldb1	T	C	9: 44,715,781	M456V	probably damaging	Het
Pi16	C	T	17: 29,326,896	T216I	probably damaging	Het
Plekha2	C	A	8: 25,059,238	A177S	probably benign	Het
Prss16	C	T	13: 22,003,051	V450I	possibly damaging	Het
Rab3gap2	T	A	1: 185,277,205	L1086H	probably damaging	Het
Rab3gap2	C	T	1: 185,221,899	P56L	probably benign	Het
Rgs21	A	G	1: 144,536,942	V48A	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rnf213	A	G	11: 119,434,686		probably null	Het
Slc4a2	G	T	5: 24,434,838	V506L	probably damaging	Het
Sptbn5	C	G	2: 120,085,567		probably benign	Het
Steap2	C	T	5: 5,673,681	V400I	probably benign	Het
Syne2	G	A	12: 75,950,959	G2236D	probably benign	Het
Tespa1	T	C	10: 130,354,755	S84P	probably damaging	Het
Tlx2	G	A	6: 83,069,826	A85V	possibly damaging	Het
Tm4sf1	A	T	3: 57,293,087	F65I	probably benign	Het
Tmprss13	A	G	9: 45,344,955	I456V	probably damaging	Het
Tpte	C	T	8: 22,327,748	S250F	probably damaging	Het
Trim24	T	C	6: 37,965,601	F946S	probably benign	Het
Vmn2r10	A	T	5: 108,999,044	Y459*	probably null	Het
Vps54	T	A	11: 21,264,864	I112N	probably damaging	Het
Vwa1	A	G	4: 155,774,465	L13P	probably damaging	Het
Zfp648	C	A	1: 154,204,217	Q41K	probably benign	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
R5192:Gm38100	UTSW	1	175920842	missense	probably benign	0.24
R5275:Gm38100	UTSW	1	175920770	missense	probably benign	0.07
R5666:Gm38100	UTSW	1	175921613	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTCTGATGGGAGCCACAG -3'
(R):5'- CTGGACTCTGGAAAACCTGTCTC -3'

Sequencing Primer
(F):5'- GAGCCACAGCGTCTTCTTGAATAAC -3'
(R):5'- GGACTCTGGAAAACCTGTCTCAAAAG -3'

Posted On

2016-11-09