Mutagenetix > Incidental Mutation

Incidental Mutation 'R4441:Gm136'

329754

Institutional Source

Beutler Lab

Gene Symbol

Gm136

Ensembl Gene

ENSMUSG00000071015

Gene Name

predicted gene 136

Synonyms

LOC214568

MMRRC Submission

041706-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R4441 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34743788-34756259 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34755911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 34 (D34G)

Ref Sequence

ENSEMBL: ENSMUSP00000092748 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095129]

AlphaFold

Q3V037

Predicted Effect

probably benign
Transcript: ENSMUST00000095129
AA Change: D34G

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000092748
Gene: ENSMUSG00000071015
AA Change: D34G

Domain	Start	End	E-Value	Type
low complexity region	72	83	N/A	INTRINSIC
coiled coil region	119	189	N/A	INTRINSIC
coiled coil region	223	251	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,127,024 (GRCm39)	R1238S	probably benign	Het
Ankmy1	A	T	1: 92,816,383 (GRCm39)	Y244N	possibly damaging	Het
Asxl3	C	T	18: 22,657,290 (GRCm39)	P1767S	probably damaging	Het
C1qtnf7	A	T	5: 43,766,612 (GRCm39)	K70N	possibly damaging	Het
Cibar1	A	G	4: 12,157,733 (GRCm39)	M261T	probably damaging	Het
Fam78b	C	A	1: 166,906,491 (GRCm39)	Q217K	probably damaging	Het
Garem1	T	C	18: 21,301,807 (GRCm39)	T127A	possibly damaging	Het
Gls	A	T	1: 52,235,322 (GRCm39)		probably null	Het
Gm12790	A	C	4: 101,825,337 (GRCm39)	S26A	probably damaging	Het
Gmds	A	G	13: 32,124,461 (GRCm39)		probably null	Het
Hdac9	G	T	12: 34,439,375 (GRCm39)	H401N	probably damaging	Het
Hmcn1	T	C	1: 150,533,210 (GRCm39)	I3026V	probably null	Het
Igkv6-20	A	T	6: 70,313,101 (GRCm39)	M24K	probably damaging	Het
Ilf2	T	C	3: 90,394,769 (GRCm39)	L339P	probably benign	Het
Insr	T	A	8: 3,244,902 (GRCm39)	K501N	probably benign	Het
Lyst	G	A	13: 13,809,968 (GRCm39)	R546H	probably damaging	Het
Mcm5	T	C	8: 75,839,172 (GRCm39)	S142P	probably benign	Het
Mcpt9	A	G	14: 56,265,009 (GRCm39)	V164A	probably damaging	Het
Ncapd3	T	A	9: 26,962,941 (GRCm39)	D415E	possibly damaging	Het
Nfia	T	C	4: 97,661,150 (GRCm39)		probably null	Het
Nipbl	G	C	15: 8,396,142 (GRCm39)	Q144E	probably damaging	Het
Or51g1	A	T	7: 102,633,516 (GRCm39)	V285E	possibly damaging	Het
Or51q1c	T	G	7: 103,653,279 (GRCm39)	F266V	probably damaging	Het
Or6z5	T	C	7: 6,477,924 (GRCm39)	S272P	probably benign	Het
Pcdhgb8	A	G	18: 37,896,114 (GRCm39)	I395V	possibly damaging	Het
Plcz1	T	A	6: 139,936,413 (GRCm39)	L605F	probably benign	Het
Prph	G	A	15: 98,955,005 (GRCm39)	S325N	probably damaging	Het
Ptpn23	A	G	9: 110,221,793 (GRCm39)	M131T	probably benign	Het
Rab3ip	T	G	10: 116,751,837 (GRCm39)	D278A	probably benign	Het
Rasgrf2	T	C	13: 92,131,797 (GRCm39)	D620G	possibly damaging	Het
Rbm5	A	G	9: 107,626,887 (GRCm39)		probably benign	Het
Rc3h2	A	G	2: 37,304,526 (GRCm39)		probably null	Het
Saxo5	C	T	8: 3,526,105 (GRCm39)	S86L	probably damaging	Het
Tbxa2r	T	C	10: 81,168,925 (GRCm39)	S205P	probably damaging	Het
Tenm4	A	G	7: 96,545,022 (GRCm39)	N2375S	probably benign	Het
Tespa1	C	T	10: 130,197,826 (GRCm39)	R283C	probably damaging	Het
Tle2	A	G	10: 81,417,516 (GRCm39)	E227G	possibly damaging	Het
Tnik	A	G	3: 28,618,246 (GRCm39)	I266V	possibly damaging	Het
Tnn	T	G	1: 159,943,650 (GRCm39)	E1054D	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpm1	A	G	7: 63,851,666 (GRCm39)	D12G	probably damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Wdr7	T	A	18: 63,888,281 (GRCm39)	Y585N	probably damaging	Het
Zgrf1	T	A	3: 127,379,786 (GRCm39)	N223K	possibly damaging	Het

Other mutations in Gm136

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Gm136	APN	4	34,752,322 (GRCm39)	missense	probably damaging	1.00
R0104:Gm136	UTSW	4	34,746,593 (GRCm39)	missense	possibly damaging	0.65
R0108:Gm136	UTSW	4	34,746,593 (GRCm39)	missense	possibly damaging	0.65
R1221:Gm136	UTSW	4	34,744,127 (GRCm39)	missense	possibly damaging	0.71
R1635:Gm136	UTSW	4	34,750,919 (GRCm39)	critical splice donor site	probably null
R1674:Gm136	UTSW	4	34,746,662 (GRCm39)	splice site	probably benign
R1971:Gm136	UTSW	4	34,755,986 (GRCm39)	missense	probably benign	0.00
R2496:Gm136	UTSW	4	34,746,541 (GRCm39)	missense	probably damaging	1.00
R4901:Gm136	UTSW	4	34,746,580 (GRCm39)	nonsense	probably null
R5300:Gm136	UTSW	4	34,750,930 (GRCm39)	missense	probably damaging	0.98
R6609:Gm136	UTSW	4	34,746,526 (GRCm39)	missense	probably benign
R6709:Gm136	UTSW	4	34,755,884 (GRCm39)	missense	probably damaging	1.00
R6824:Gm136	UTSW	4	34,746,591 (GRCm39)	missense	probably benign	0.15
R7098:Gm136	UTSW	4	34,746,628 (GRCm39)	missense	probably benign	0.08
R7689:Gm136	UTSW	4	34,743,875 (GRCm39)	missense	probably null	0.00
R8249:Gm136	UTSW	4	34,750,955 (GRCm39)	missense	probably benign
R9068:Gm136	UTSW	4	34,750,928 (GRCm39)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- GAGAAGTGTGGCACCCAATG -3'
(R):5'- TAGCGTCTCTTGAAGCCACC -3'

Sequencing Primer
(F):5'- GCGAATCTCTCTGAGCTAGATGC -3'
(R):5'- CTTGAAGTAGTAAAAGCAATCA -3'

Posted On

2015-07-21