Mutagenetix > Incidental Mutation

Incidental Mutation 'R2339:Gm10134'

318106

Institutional Source

Beutler Lab

Gene Symbol

Gm10134

Ensembl Gene

ENSMUSG00000063611

Gene Name

predicted gene 10134

Synonyms

MMRRC Submission

040325-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R2339 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

28396107-28397785 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28396141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 12 (S12F)

Ref Sequence

ENSEMBL: ENSMUSP00000082978 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028172] [ENSMUST00000074761] [ENSMUST00000163121]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028172

SMART Domains

Protein: ENSMUSP00000028172
Gene: ENSMUSG00000026829

Domain	Start	End	E-Value	Type
transmembrane domain	7	24	N/A	INTRINSIC
Pfam:Glyco_transf_6	33	347	1.6e-154	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000074761
AA Change: S12F

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000082978
Gene: ENSMUSG00000063611
AA Change: S12F

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127958

Predicted Effect

probably benign
Transcript: ENSMUST00000163121

SMART Domains

Protein: ENSMUSP00000127071
Gene: ENSMUSG00000026829

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_6	11	347	1.9e-152	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	T	C	11: 84,402,323 (GRCm39)	D121G	probably benign	Het
Ccdc168	G	T	1: 44,100,023 (GRCm39)	D358E	probably benign	Het
Cilp2	A	T	8: 70,335,544 (GRCm39)	S485T	probably benign	Het
Cux1	A	C	5: 136,315,862 (GRCm39)	S1059R	probably damaging	Het
Dnah5	A	G	15: 28,314,028 (GRCm39)	D1948G	probably benign	Het
Fyn	A	G	10: 39,398,781 (GRCm39)	T126A	probably benign	Het
Grm7	T	C	6: 111,472,642 (GRCm39)	I827T	possibly damaging	Het
H1f4	T	C	13: 23,805,943 (GRCm39)		probably benign	Het
Hacd4	T	A	4: 88,341,336 (GRCm39)		probably null	Het
Helt	T	C	8: 46,745,709 (GRCm39)	N58S	probably damaging	Het
Jakmip1	T	C	5: 37,248,543 (GRCm39)	Y68H	probably benign	Het
Myof	G	T	19: 37,926,375 (GRCm39)	H1127N	probably damaging	Het
Nbas	A	T	12: 13,412,593 (GRCm39)	I971L	probably benign	Het
Or4k39	C	T	2: 111,239,534 (GRCm39)	T258I	probably benign	Het
Pakap	G	A	4: 57,883,180 (GRCm39)	R882H	probably damaging	Het
Peg10	A	G	6: 4,756,102 (GRCm39)		probably benign	Het
Pparg	G	T	6: 115,428,005 (GRCm39)	R164L	probably damaging	Het
Ppp4r3b	A	T	11: 29,150,725 (GRCm39)	N464Y	possibly damaging	Het
Ric8b	T	C	10: 84,805,888 (GRCm39)	V333A	probably benign	Het
Sall2	G	A	14: 52,550,813 (GRCm39)	S792L	probably damaging	Het
Slc5a4b	C	A	10: 75,944,383 (GRCm39)	L87F	probably damaging	Het
Sox12	A	G	2: 152,238,958 (GRCm39)	S221P	possibly damaging	Het
Tpr	T	A	1: 150,289,525 (GRCm39)	S619T	probably benign	Het
Trdmt1	G	A	2: 13,524,871 (GRCm39)	Q195*	probably null	Het
Trpm2	A	T	10: 77,750,640 (GRCm39)		probably benign	Het
Ttc3	C	T	16: 94,232,857 (GRCm39)	P1003L	probably damaging	Het
Upf2	A	T	2: 6,044,913 (GRCm39)		probably benign	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Zfp318	C	T	17: 46,710,389 (GRCm39)	T704I	probably benign	Het

Other mutations in Gm10134

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02431:Gm10134	APN	2	28,396,429 (GRCm39)	unclassified	probably benign
R5288:Gm10134	UTSW	2	28,396,372 (GRCm39)	unclassified	probably benign
R5385:Gm10134	UTSW	2	28,396,372 (GRCm39)	unclassified	probably benign
R5994:Gm10134	UTSW	2	28,396,258 (GRCm39)	missense	probably damaging	0.98
R6668:Gm10134	UTSW	2	28,396,263 (GRCm39)	nonsense	probably null
R7594:Gm10134	UTSW	2	28,396,372 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACAGACCAGGCTTAGCTTCC -3'
(R):5'- GATTGTTTGAAATCCAGCTTGC -3'

Sequencing Primer
(F):5'- TCACCTGCATCCCATGGTGAG -3'
(R):5'- TTGAAATCCAGCTTGCAGCCG -3'

Posted On

2015-05-29