Mutagenetix > Incidental Mutations

Incidental Mutation 'R0552:Gm4737'

45258

Institutional Source

Beutler Lab

Gene Symbol

Gm4737

Ensembl Gene

ENSMUSG00000048087

Gene Name

predicted gene 4737

Synonyms

MMRRC Submission

038744-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R0552 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46152985-46155077 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46154592 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 141 (T141S)

Ref Sequence

ENSEMBL: ENSMUSP00000127198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059524]

Predicted Effect

probably benign
Transcript: ENSMUST00000059524
AA Change: T141S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127198
Gene: ENSMUSG00000048087
AA Change: T141S

Domain	Start	End	E-Value	Type
AdoHcyase	6	431	N/A	SMART
AdoHcyase_NAD	191	352	1.49e-118	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	A	T	8: 24,963,010	N760K	probably benign	Het
Akr1b10	A	G	6: 34,392,985	T216A	possibly damaging	Het
Arsj	A	G	3: 126,439,344	R580G	probably benign	Het
C9	A	T	15: 6,445,437	I26F	probably damaging	Het
Cacna2d1	A	G	5: 16,328,043	E578G	probably damaging	Het
Clca4b	C	T	3: 144,916,775	V510I	probably benign	Het
Dab2	C	T	15: 6,435,414	T561I	possibly damaging	Het
E430018J23Rik	A	T	7: 127,392,332	I161N	possibly damaging	Het
Golga5	A	T	12: 102,484,493	E12D	possibly damaging	Het
Hsd17b12	A	T	2: 94,043,935	F208I	probably damaging	Het
Inf2	A	G	12: 112,612,574		probably benign	Het
Kcnh3	T	A	15: 99,229,456	W378R	probably damaging	Het
Klhdc8b	G	C	9: 108,449,223	R158G	possibly damaging	Het
Klhl41	G	A	2: 69,670,210	R5Q	probably benign	Het
Lcn3	T	C	2: 25,766,409		probably null	Het
Mppe1	A	G	18: 67,237,348		probably null	Het
Muc20	G	A	16: 32,793,930	A359V	probably damaging	Het
Myh14	T	C	7: 44,613,681	D1765G	probably damaging	Het
Olfr1257	C	T	2: 89,880,891	Q22*	probably null	Het
Olfr418	T	C	1: 173,270,805	M210T	probably benign	Het
Olfr482	A	G	7: 108,094,778	M264T	probably benign	Het
Pbrm1	T	A	14: 31,035,959	L182Q	probably damaging	Het
Pde8a	A	G	7: 81,317,347	N412S	probably benign	Het
Phyh	A	G	2: 4,936,101	T271A	probably damaging	Het
Pkhd1l1	T	C	15: 44,489,546	S258P	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Pyroxd1	A	G	6: 142,345,737	E2G	probably benign	Het
Ralgapa1	G	T	12: 55,676,765	Q2115K	probably benign	Het
Rufy3	A	G	5: 88,584,270	E44G	possibly damaging	Het
Slit2	A	T	5: 48,238,379	N712I	probably damaging	Het
Sptbn1	A	G	11: 30,145,985	M303T	possibly damaging	Het
Ssbp4	A	G	8: 70,599,859	I154T	probably benign	Het
Syne2	A	G	12: 75,931,004	K1409E	probably benign	Het
Tfap2b	T	C	1: 19,234,225	Y420H	probably damaging	Het
Tlr5	A	G	1: 182,975,696		probably null	Het
Tmprss15	C	T	16: 79,024,749		probably null	Het
Tns1	A	T	1: 73,920,563	I418N	probably damaging	Het
Txlna	A	T	4: 129,629,191	V452D	probably benign	Het
Wdr17	C	T	8: 54,693,096	A90T	possibly damaging	Het
Zfp563	A	T	17: 33,104,685	S85C	possibly damaging	Het

Other mutations in Gm4737

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02173:Gm4737	APN	16	46154078	missense	probably benign
IGL03347:Gm4737	APN	16	46154489	missense	probably benign	0.01
R0326:Gm4737	UTSW	16	46153883	missense	probably benign	0.03
R0610:Gm4737	UTSW	16	46153901	missense	probably damaging	1.00
R1465:Gm4737	UTSW	16	46153848	missense	probably benign	0.01
R1465:Gm4737	UTSW	16	46153848	missense	probably benign	0.01
R1473:Gm4737	UTSW	16	46154819	missense	probably damaging	1.00
R2997:Gm4737	UTSW	16	46153925	missense	possibly damaging	0.83
R4546:Gm4737	UTSW	16	46153967	missense	possibly damaging	0.81
R4818:Gm4737	UTSW	16	46154192	missense	probably damaging	1.00
R6544:Gm4737	UTSW	16	46154784	missense	probably benign
R7358:Gm4737	UTSW	16	46153838	missense	probably damaging	1.00
R7689:Gm4737	UTSW	16	46154607	missense	probably benign	0.12
Z1176:Gm4737	UTSW	16	46154229	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- GTCGATCTCGGTGATGATGACTCG -3'
(R):5'- TCTTCTCTACTCAGGACCATGCAGC -3'

Sequencing Primer
(F):5'- ATGCCATCTATGAGGGACTCC -3'
(R):5'- CGGCTGCCATTGCCAAG -3'

Posted On

2013-06-11