Mutagenetix > Incidental Mutations

Incidental Mutation 'R2339:Gm10134'

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318106

Institutional Source

Beutler Lab

Gene Symbol

Gm10134

Ensembl Gene

ENSMUSG00000063611

Gene Name

predicted gene 10134

Synonyms

MMRRC Submission

040325-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R2339 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

28506095-28506475 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28506129 bp

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]

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: 84,511,497	D121G	probably benign	Het
Cilp2	A	T	8: 69,882,894	S485T	probably benign	Het
Cux1	A	C	5: 136,287,008	S1059R	probably damaging	Het
Dnah5	A	G	15: 28,313,882	D1948G	probably benign	Het
Fyn	A	G	10: 39,522,785	T126A	probably benign	Het
Gm8251	G	T	1: 44,060,863	D358E	probably benign	Het
Grm7	T	C	6: 111,495,681	I827T	possibly damaging	Het
Hacd4	T	A	4: 88,423,099		probably null	Het
Helt	T	C	8: 46,292,672	N58S	probably damaging	Het
Hist1h1e	T	C	13: 23,621,960		probably benign	Het
Jakmip1	T	C	5: 37,091,199	Y68H	probably benign	Het
Myof	G	T	19: 37,937,927	H1127N	probably damaging	Het
Nbas	A	T	12: 13,362,592	I971L	probably benign	Het
Olfr1285	C	T	2: 111,409,189	T258I	probably benign	Het
Pakap	G	A	4: 57,883,180	R882H	probably damaging	Het
Peg10	A	G	6: 4,756,102		probably benign	Het
Pparg	G	T	6: 115,451,044	R164L	probably damaging	Het
Ppp4r3b	A	T	11: 29,200,725	N464Y	possibly damaging	Het
Ric8b	T	C	10: 84,970,024	V333A	probably benign	Het
Sall2	G	A	14: 52,313,356	S792L	probably damaging	Het
Slc5a4b	C	A	10: 76,108,549	L87F	probably damaging	Het
Sox12	A	G	2: 152,397,038	S221P	possibly damaging	Het
Tpr	T	A	1: 150,413,774	S619T	probably benign	Het
Trdmt1	G	A	2: 13,520,060	Q195*	probably null	Het
Trpm2	A	T	10: 77,914,806		probably benign	Het
Ttc3	C	T	16: 94,431,998	P1003L	probably damaging	Het
Upf2	A	T	2: 6,040,102		probably benign	Het
Vmn2r112	T	A	17: 22,603,115	V258E	probably damaging	Het
Zfp318	C	T	17: 46,399,463	T704I	probably benign	Het

Other mutations in Gm10134

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02431:Gm10134	APN	2	28506417	unclassified	probably benign
R5288:Gm10134	UTSW	2	28506360	unclassified	probably benign
R5385:Gm10134	UTSW	2	28506360	unclassified	probably benign
R5994:Gm10134	UTSW	2	28506246	missense	probably damaging	0.98
R6668:Gm10134	UTSW	2	28506251	nonsense	probably null
R7594:Gm10134	UTSW	2	28506360	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