Mutagenetix > Incidental Mutation

Incidental Mutation 'R0108:Gm136'

17832

Institutional Source

Beutler Lab

Gene Symbol

Gm136

Ensembl Gene

ENSMUSG00000071015

Gene Name

predicted gene 136

Synonyms

LOC214568

MMRRC Submission

038394-MU

Accession Numbers

Essential gene?

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

Stock #

R0108 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

34743788-34756259 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34746593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 139 (H139Q)

Ref Sequence

ENSEMBL: ENSMUSP00000092748 (fasta)

Gene Model

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

AlphaFold

Q3V037

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095129
AA Change: H139Q

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000092748
Gene: ENSMUSG00000071015
AA Change: H139Q

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

0.1329

Coding Region Coverage

1x: 87.1%
3x: 81.7%
10x: 58.7%
20x: 25.7%

Validation Efficiency

90% (92/102)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,224,692 (GRCm39)	N910K	probably benign	Het
Ackr4	T	A	9: 103,976,387 (GRCm39)	I187F	probably benign	Het
Adamts12	T	C	15: 11,311,184 (GRCm39)	V1147A	probably benign	Het
Adcy2	A	T	13: 68,800,054 (GRCm39)	V858E	probably damaging	Het
Adgrv1	A	G	13: 81,726,523 (GRCm39)		probably benign	Het
Atg4c	C	T	4: 99,109,677 (GRCm39)	H215Y	possibly damaging	Het
Ccdc88a	T	A	11: 29,453,463 (GRCm39)	S337T	probably damaging	Het
Evpl	T	C	11: 116,111,702 (GRCm39)	E1996G	probably damaging	Het
Fbxw10	A	G	11: 62,767,887 (GRCm39)	T903A	probably benign	Het
Frem2	G	T	3: 53,555,382 (GRCm39)	D1718E	probably benign	Het
Gatad2b	T	A	3: 90,265,250 (GRCm39)	Y576N	probably damaging	Het
Helq	C	A	5: 100,916,234 (GRCm39)	E913*	probably null	Het
Itgb7	C	T	15: 102,131,917 (GRCm39)	R222H	probably damaging	Het
Lmtk2	C	T	5: 144,111,103 (GRCm39)	R608C	possibly damaging	Het
Lonp2	G	A	8: 87,442,983 (GRCm39)	V815I	probably benign	Het
Mpdz	C	T	4: 81,300,042 (GRCm39)	V319I	probably damaging	Het
Ntng1	T	C	3: 109,759,071 (GRCm39)		probably benign	Het
Nup210l	A	G	3: 90,096,882 (GRCm39)	T1364A	probably damaging	Het
Or10q1b	A	T	19: 13,683,042 (GRCm39)	T284S	probably damaging	Het
Pcdha1	T	A	18: 37,131,809 (GRCm39)	W293R	probably benign	Het
Plcl1	A	G	1: 55,737,098 (GRCm39)	Y813C	possibly damaging	Het
Plekho2	A	T	9: 65,466,705 (GRCm39)	D128E	probably damaging	Het
Pstpip1	A	G	9: 56,035,050 (GRCm39)	E341G	probably benign	Het
Rps6ka2	G	A	17: 7,563,442 (GRCm39)	D617N	probably benign	Het
Scin	A	G	12: 40,177,986 (GRCm39)	V83A	possibly damaging	Het
Sec11a	A	G	7: 80,584,787 (GRCm39)	V50A	probably damaging	Het
Sel1l3	C	T	5: 53,295,244 (GRCm39)	A786T	possibly damaging	Het
Shroom1	T	C	11: 53,357,764 (GRCm39)	S772P	possibly damaging	Het
Slc30a5	G	T	13: 100,939,908 (GRCm39)	A669E	probably damaging	Het
Tm6sf1	G	A	7: 81,515,093 (GRCm39)		probably null	Het
Ttll4	G	T	1: 74,718,928 (GRCm39)	V260L	probably benign	Het
Zfand3	A	G	17: 30,354,372 (GRCm39)	E63G	probably 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
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
R4441:Gm136	UTSW	4	34,755,911 (GRCm39)	missense	probably benign	0.35
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

Posted On

2013-03-25