Mutagenetix > Incidental Mutation

Incidental Mutation 'R5194:Gm57859'

399994

Institutional Source

Beutler Lab

Gene Symbol

Gm57859

Ensembl Gene

ENSMUSG00000041623

Gene Name

predicted gene, 57859

Synonyms

D11Wsu47e

MMRRC Submission

042770-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R5194 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113575238-113585473 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113579654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 350 (S350P)

Ref Sequence

ENSEMBL: ENSMUSP00000102232 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042227] [ENSMUST00000106621] [ENSMUST00000120194] [ENSMUST00000123466] [ENSMUST00000153732]

AlphaFold

Q6PIX9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042227
AA Change: S350P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000042025
Gene: ENSMUSG00000041623
AA Change: S350P

Domain	Start	End	E-Value	Type
low complexity region	273	283	N/A	INTRINSIC
low complexity region	491	510	N/A	INTRINSIC
transmembrane domain	529	548	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106621
AA Change: S350P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102232
Gene: ENSMUSG00000041623
AA Change: S350P

Domain	Start	End	E-Value	Type
low complexity region	273	283	N/A	INTRINSIC
low complexity region	491	510	N/A	INTRINSIC
transmembrane domain	529	548	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120194

SMART Domains

Protein: ENSMUSP00000113652
Gene: ENSMUSG00000041629

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	22	48	N/A	INTRINSIC
low complexity region	52	71	N/A	INTRINSIC
Pfam:FAM104	75	185	3.1e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123466

Predicted Effect

probably benign
Transcript: ENSMUST00000153732

Meta Mutation Damage Score

0.1205

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	C	17: 48,348,059 (GRCm39)	N82D	probably benign	Het
Aadacl4fm2	A	G	4: 144,281,652 (GRCm39)	V380A	probably benign	Het
Acadm	C	T	3: 153,638,755 (GRCm39)	R206H	possibly damaging	Het
Acly	T	A	11: 100,414,372 (GRCm39)	Y18F	probably benign	Het
Acnat2	G	T	4: 49,380,452 (GRCm39)	Q291K	probably benign	Het
Agtpbp1	T	C	13: 59,648,453 (GRCm39)	I456V	probably benign	Het
Ankrd7	A	G	6: 18,868,076 (GRCm39)	N114S	possibly damaging	Het
Arfgef1	A	T	1: 10,275,132 (GRCm39)	L307I	probably benign	Het
Arhgef2	A	T	3: 88,542,956 (GRCm39)	I383F	probably damaging	Het
Cbs	C	T	17: 31,843,198 (GRCm39)		probably null	Het
Cep135	T	C	5: 76,763,624 (GRCm39)	V538A	probably benign	Het
Dennd5a	T	C	7: 109,532,936 (GRCm39)	E254G	probably damaging	Het
Drc7	T	C	8: 95,788,345 (GRCm39)	V236A	probably benign	Het
Dtna	C	T	18: 23,723,302 (GRCm39)	Q169*	probably null	Het
Egfem1	G	A	3: 29,411,345 (GRCm39)		probably null	Het
Eif2ak3	T	C	6: 70,835,462 (GRCm39)	S130P	possibly damaging	Het
Ewsr1	T	C	11: 5,032,355 (GRCm39)	N297S	unknown	Het
F13a1	T	G	13: 37,156,037 (GRCm39)	D192A	probably damaging	Het
Fam120a	A	G	13: 49,034,411 (GRCm39)	V1067A	probably benign	Het
Gm17490	T	C	2: 11,631,062 (GRCm39)	Y5C	unknown	Het
Gm8587	C	T	12: 88,056,556 (GRCm39)		noncoding transcript	Het
H2-Ab1	C	T	17: 34,488,352 (GRCm39)		probably benign	Het
Hoxd12	T	C	2: 74,505,447 (GRCm39)	L6P	probably damaging	Het
Ifi204	C	T	1: 173,576,910 (GRCm39)	D564N	possibly damaging	Het
Irak2	T	C	6: 113,667,751 (GRCm39)	V444A	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrba	A	C	3: 86,235,526 (GRCm39)	N877H	probably damaging	Het
Mylk3	T	C	8: 86,079,495 (GRCm39)	I388V	probably benign	Het
Myo9b	C	T	8: 71,801,733 (GRCm39)	A1286V	probably benign	Het
Myt1l	A	C	12: 29,861,647 (GRCm39)	D143A	unknown	Het
Ngfr	T	C	11: 95,471,808 (GRCm39)	N63S	probably benign	Het
Or2ag16	A	T	7: 106,352,426 (GRCm39)	H56Q	probably benign	Het
Or4c3	T	A	2: 89,851,870 (GRCm39)	Y180F	probably damaging	Het
Or51a7	A	G	7: 102,615,071 (GRCm39)	I255V	probably benign	Het
Or6c70	C	T	10: 129,709,967 (GRCm39)	V220I	probably benign	Het
Or6z6	A	G	7: 6,491,519 (GRCm39)	L118P	probably damaging	Het
P2rx7	T	C	5: 122,811,858 (GRCm39)	S390P	probably benign	Het
Pcdhga4	A	C	18: 37,820,794 (GRCm39)	Q781P	probably benign	Het
Phip	G	A	9: 82,790,915 (GRCm39)	S677F	probably benign	Het
Ptpdc1	C	A	13: 48,740,265 (GRCm39)	V389F	possibly damaging	Het
Rab2a	T	A	4: 8,604,381 (GRCm39)	I161N	probably benign	Het
Rnf113a2	T	A	12: 84,464,111 (GRCm39)	M1K	probably null	Het
Schip1	T	C	3: 68,402,205 (GRCm39)	V122A	probably benign	Het
Sdr16c5	C	A	4: 4,006,663 (GRCm39)	A210S	probably benign	Het
Sh3bp1	A	G	15: 78,787,301 (GRCm39)	K83E	probably damaging	Het
Sipa1l2	T	C	8: 126,166,012 (GRCm39)	S1541G	possibly damaging	Het
Slc22a21	T	C	11: 53,870,673 (GRCm39)	Y4C	probably damaging	Het
Smco1	C	T	16: 32,092,592 (GRCm39)	H88Y	probably damaging	Het
Tll2	T	C	19: 41,084,336 (GRCm39)	D697G	probably damaging	Het
Trim34a	A	G	7: 103,910,200 (GRCm39)	N334S	possibly damaging	Het
Ubqln1	A	G	13: 58,346,847 (GRCm39)	I64T	probably benign	Het
Vstm2b	T	A	7: 40,551,912 (GRCm39)		probably null	Het
Wdr17	A	G	8: 55,140,639 (GRCm39)	F238L	probably damaging	Het
Wiz	T	C	17: 32,596,822 (GRCm39)		probably benign	Het
Zfp407	T	C	18: 84,579,434 (GRCm39)	S560G	probably benign	Het

Other mutations in Gm57859

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Gm57859	APN	11	113,583,296 (GRCm39)	missense	probably benign	0.19
IGL01701:Gm57859	APN	11	113,579,927 (GRCm39)	missense	probably benign	0.27
R0483:Gm57859	UTSW	11	113,580,021 (GRCm39)	missense	possibly damaging	0.92
R0601:Gm57859	UTSW	11	113,578,712 (GRCm39)	missense	probably benign	0.38
R1567:Gm57859	UTSW	11	113,578,728 (GRCm39)	missense	probably damaging	0.99
R4834:Gm57859	UTSW	11	113,579,805 (GRCm39)	missense	probably benign	0.03
R4923:Gm57859	UTSW	11	113,579,805 (GRCm39)	missense	probably benign	0.03
R5779:Gm57859	UTSW	11	113,578,818 (GRCm39)	missense	probably benign	0.02
R5815:Gm57859	UTSW	11	113,578,783 (GRCm39)	splice site	probably null
R6174:Gm57859	UTSW	11	113,579,801 (GRCm39)	missense	possibly damaging	0.46
R6566:Gm57859	UTSW	11	113,578,824 (GRCm39)	missense	probably damaging	0.96
R6837:Gm57859	UTSW	11	113,579,439 (GRCm39)	missense	possibly damaging	0.90
R6974:Gm57859	UTSW	11	113,578,818 (GRCm39)	missense	probably benign	0.02
R7497:Gm57859	UTSW	11	113,583,223 (GRCm39)	missense	probably damaging	0.97
R9439:Gm57859	UTSW	11	113,583,229 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCATCAGGAACTTGGCCTTG -3'
(R):5'- CCCAACGAAGGTTTTAGGAAC -3'

Sequencing Primer
(F):5'- CAGGAACTTGGCCTTGGCATG -3'
(R):5'- TACTGAGCTGAGTATGACATTAGGC -3'

Posted On

2016-07-06