Mutagenetix > Incidental Mutations

Incidental Mutation 'R3922:Gm38100'

474693

Institutional Source

Beutler Lab

Gene Symbol

Gm38100

Ensembl Gene

ENSMUSG00000104158

Gene Name

predicted gene, 38100

Synonyms

MMRRC Submission

040819-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R3922 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

175920329-175922225 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 175921286 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 306 (V306A)

Ref Sequence

ENSEMBL: ENSMUSP00000144267 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000194391
AA Change: V306A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000144267
Gene: ENSMUSG00000104158
AA Change: V306A

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: V306A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143887
Gene: ENSMUSG00000104158
AA Change: V306A

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: 98.6%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
4921504E06Rik	T	A	2: 19,480,560	E432V	probably benign	Het
Ahnak	G	A	19: 9,006,328	D1659N	probably benign	Het
Arfgap2	C	T	2: 91,274,805	R405W	probably damaging	Het
Arhgef28	A	G	13: 97,993,944	L462P	possibly damaging	Het
Arid1b	T	C	17: 5,343,041	V2282A	probably damaging	Het
Cdkl1	G	T	12: 69,756,599	R168S	probably damaging	Het
Cep70	T	A	9: 99,275,579	*117R	probably null	Het
Cnnm1	A	G	19: 43,440,445	M1V	probably null	Het
Cntrl	A	G	2: 35,129,739	E526G	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Ddx59	T	A	1: 136,416,744	V51D	probably benign	Het
Dtd2	G	C	12: 52,004,951		probably null	Het
Eea1	T	A	10: 96,036,633	N1068K	probably benign	Het
Egfr	T	A	11: 16,881,495	C555S	probably damaging	Het
Esd	A	T	14: 74,743,227	Q130H	probably benign	Het
Gpr89	A	T	3: 96,890,899	I147N	probably damaging	Het
H2-M10.1	T	A	17: 36,325,685	I76L	probably benign	Het
Lgi4	A	T	7: 31,067,448	D300V	probably benign	Het
Lrp1b	C	A	2: 40,677,581	V276L	unknown	Het
Lrp2	T	C	2: 69,506,376	K1351E	probably benign	Het
Mroh8	T	C	2: 157,222,811	I782V	probably benign	Het
Msrb1	T	C	17: 24,740,083	S70P	probably damaging	Het
Nek10	T	C	14: 14,861,585	M547T	possibly damaging	Het
Olfr1501	T	C	19: 13,838,766	T136A	probably damaging	Het
Olfr615	T	C	7: 103,560,705	V76A	probably benign	Het
Olfr769	C	A	10: 129,111,613	V271F	possibly damaging	Het
P4htm	T	C	9: 108,582,895	N227D	probably benign	Het
Plekhm2	T	C	4: 141,629,532	T787A	probably benign	Het
Pramel5	A	G	4: 144,273,052	L155P	probably damaging	Het
Sbno1	T	C	5: 124,381,930	Y1122C	probably damaging	Het
Scn9a	T	A	2: 66,526,873	D1028V	possibly damaging	Het
Sft2d1	G	T	17: 8,318,882	L34F	possibly damaging	Het
Slc19a3	A	T	1: 83,022,957	F113Y	probably damaging	Het
Slc27a3	G	T	3: 90,387,085	H460N	possibly damaging	Het
Slc35g2	A	T	9: 100,552,727	I297N	probably benign	Het
Ssh1	T	G	5: 113,942,708	Q865P	possibly damaging	Het
Trp63	A	G	16: 25,889,009	D583G	probably damaging	Het
Usp28	T	C	9: 49,030,923		probably null	Het
Wdr43	A	G	17: 71,638,301		probably benign	Het
Zfhx4	A	G	3: 5,400,647	Y1955C	probably damaging	Het
Zfp108	G	A	7: 24,261,348	G455R	probably damaging	Het
Zfp353-ps	A	T	8: 42,083,012		noncoding transcript	Het

Other mutations in Gm38100

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3623:Gm38100	UTSW	1	175920631	missense	possibly damaging	0.88
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
R5670:Gm38100	UTSW	1	175921613	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-04-14