Mutagenetix > Incidental Mutations

Incidental Mutation 'R5229:C87499'

403642

Institutional Source

Beutler Lab

Gene Symbol

C87499

Ensembl Gene

ENSMUSG00000038330

Gene Name

expressed sequence C87499

Synonyms

MMRRC Submission

042802-MU

Accession Numbers

Ncbi RefSeq:NM_198663.3; MGI:2140706

Is this an essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R5229 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88627320-88634411 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88630135 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 11 (D11G)

Ref Sequence

ENSEMBL: ENSMUSP00000056691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053304] [ENSMUST00000107142] [ENSMUST00000107143] [ENSMUST00000134155] [ENSMUST00000156062]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053304
AA Change: D11G

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000056691
Gene: ENSMUSG00000038330
AA Change: D11G

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	223	425	4e-9	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107142
AA Change: D11G

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107143
AA Change: D11G

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000134155

Predicted Effect

probably benign
Transcript: ENSMUST00000156062

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (62/63)

Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	T	C	1: 16,080,959		probably benign	Het
4930562C15Rik	A	G	16: 4,850,051	I435M	possibly damaging	Het
8430408G22Rik	T	C	6: 116,652,031	S112P	possibly damaging	Het
Adcy5	A	G	16: 35,269,070	I546V	probably damaging	Het
Apob	A	G	12: 7,977,806	T10A	probably benign	Het
Brwd1	C	A	16: 96,002,209	D2254Y	possibly damaging	Het
Bub1b	C	A	2: 118,629,989	D600E	probably damaging	Het
Cnga1	A	G	5: 72,609,500	S199P	probably damaging	Het
Cyp3a11	G	T	5: 145,855,135	L483I	probably benign	Het
Dpysl3	C	A	18: 43,332,951	G457V	probably damaging	Het
Eif4g3	C	A	4: 138,096,794	P36T	possibly damaging	Het
Epb41	C	A	4: 131,978,935	G415C	probably damaging	Het
Erap1	G	A	13: 74,660,375	V69M	possibly damaging	Het
F2	A	T	2: 91,630,241	Y301*	probably null	Het
F2rl2	A	T	13: 95,700,687	N80I	possibly damaging	Het
Gm15446	T	G	5: 109,943,170	H429Q	probably damaging	Het
Gm8773	A	T	5: 5,575,565	Y87F	possibly damaging	Het
Gpat3	G	A	5: 100,883,424	G148D	probably damaging	Het
Gpr26	A	T	7: 131,984,247	R315S	probably damaging	Het
Hdac9	A	C	12: 34,437,164	H100Q	probably damaging	Het
Heatr5a	A	T	12: 51,947,978	V457D	probably benign	Het
Igkv10-96	A	G	6: 68,632,239	M24T	possibly damaging	Het
Igkv2-95-2	A	G	6: 68,648,111		noncoding transcript	Het
Kdm4a	G	A	4: 118,146,605	S758F	probably damaging	Het
Lrg1	A	G	17: 56,120,154	W273R	probably damaging	Het
Man2a1	A	T	17: 64,710,734	Q658H	probably benign	Het
Mapkapk5	T	C	5: 121,533,391		probably null	Het
Mcm6	T	C	1: 128,333,584	D761G	possibly damaging	Het
Myh8	A	T	11: 67,284,484	Y286F	probably damaging	Het
Nbn	C	T	4: 15,963,893	T98I	probably damaging	Het
Nrd1	T	C	4: 109,049,108	S685P	probably damaging	Het
Nudcd3	A	G	11: 6,193,238	V80A	probably benign	Het
Olfr121	A	G	17: 37,752,301	H149R	probably benign	Het
Olfr474	A	G	7: 107,955,169	H176R	probably damaging	Het
Pdcd6ip	A	T	9: 113,678,333	M390K	probably damaging	Het
Pon1	C	T	6: 5,177,295	V205I	possibly damaging	Het
Ppp4r2	C	A	6: 100,865,215	H212Q	probably benign	Het
Prl2c5	G	A	13: 13,185,856	C33Y	probably damaging	Het
Rbak	A	G	5: 143,174,162	F379L	probably damaging	Het
Rcc2	G	A	4: 140,717,029	D344N	probably damaging	Het
Rgs3	T	C	4: 62,702,187	L550P	probably damaging	Het
Rnasek	A	T	11: 70,239,660	M25K	probably damaging	Het
Scgb1b24	A	T	7: 33,744,095	T60S	possibly damaging	Het
Scn5a	A	G	9: 119,535,976	F392S	probably damaging	Het
Scpep1	A	T	11: 88,937,045	V209E	probably damaging	Het
Slc35g1	A	G	19: 38,402,632		probably null	Het
Sorbs1	A	G	19: 40,340,707	I554T	probably damaging	Het
Spats1	A	G	17: 45,466,133		probably benign	Het
Tdp1	A	G	12: 99,893,660	Q202R	probably damaging	Het
Trav6-5	T	G	14: 53,491,588	S102A	probably damaging	Het
Tspan2	T	C	3: 102,768,899	M208T	probably damaging	Het
Ube4b	A	G	4: 149,387,178	S84P	probably damaging	Het
Vmn1r237	C	A	17: 21,314,371	Q119K	probably benign	Het
Vmn2r125	C	T	4: 156,351,038	T237I	probably benign	Het
Zfp65	A	T	13: 67,708,810	S117T	probably benign	Het

Other mutations in C87499

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:C87499	APN	4	88629070	missense	probably benign	0.43
IGL00229:C87499	APN	4	88629053	missense	probably damaging	0.99
IGL01938:C87499	APN	4	88629363	missense	possibly damaging	0.90
IGL02321:C87499	APN	4	88630103	missense	probably benign	0.33
IGL02351:C87499	APN	4	88627890	missense	probably damaging	1.00
IGL02358:C87499	APN	4	88627890	missense	probably damaging	1.00
P0005:C87499	UTSW	4	88627950	missense	probably damaging	1.00
R0521:C87499	UTSW	4	88629322	missense	probably damaging	0.96
R0578:C87499	UTSW	4	88634139	missense	probably benign	0.01
R0600:C87499	UTSW	4	88629299	missense	probably damaging	1.00
R0750:C87499	UTSW	4	88627668	missense	probably benign	0.01
R1483:C87499	UTSW	4	88628834	missense	probably damaging	1.00
R1502:C87499	UTSW	4	88628032	missense	probably benign	0.00
R1911:C87499	UTSW	4	88630072	missense	possibly damaging	0.93
R2204:C87499	UTSW	4	88628118	missense	probably damaging	0.99
R2507:C87499	UTSW	4	88629211	missense	possibly damaging	0.89
R2512:C87499	UTSW	4	88628958	missense	probably damaging	0.99
R4299:C87499	UTSW	4	88628182	missense	probably damaging	0.97
R4498:C87499	UTSW	4	88628892	unclassified	probably null
R4656:C87499	UTSW	4	88629965	missense	probably benign	0.41
R4787:C87499	UTSW	4	88629213	nonsense	probably null
R4823:C87499	UTSW	4	88629215	missense	probably damaging	1.00
R4885:C87499	UTSW	4	88627982	missense	possibly damaging	0.50
R4948:C87499	UTSW	4	88628948	missense	probably damaging	1.00
R4967:C87499	UTSW	4	88629195	missense	probably damaging	1.00
R5426:C87499	UTSW	4	88629410	intron	probably benign
R5520:C87499	UTSW	4	88630040	missense	probably damaging	1.00
R5574:C87499	UTSW	4	88628043	missense	probably benign	0.10
R5596:C87499	UTSW	4	88630055	missense	probably damaging	1.00
R6282:C87499	UTSW	4	88630054	missense	probably damaging	1.00
R6366:C87499	UTSW	4	88628865	missense	probably damaging	0.99
R6808:C87499	UTSW	4	88630054	missense	probably damaging	1.00
R6866:C87499	UTSW	4	88627740	missense	probably damaging	1.00
R7105:C87499	UTSW	4	88630102	missense	probably damaging	0.98
R7117:C87499	UTSW	4	88628958	missense	probably damaging	0.99
R7319:C87499	UTSW	4	88629947	missense	probably benign	0.25
R7345:C87499	UTSW	4	88628179	missense	possibly damaging	0.88
R7399:C87499	UTSW	4	88627965	missense	probably benign	0.01
R7626:C87499	UTSW	4	88630042	missense	probably damaging	1.00
R7751:C87499	UTSW	4	88629119	missense	probably benign	0.05
RF012:C87499	UTSW	4	88627769	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGGTATCATGGCCCTTAAGGTC -3'
(R):5'- AAGCAGTTCAGCATTAGACATG -3'

Sequencing Primer
(F):5'- CTTTGTACATTCATCAGTGAAGGCC -3'
(R):5'- AGCAAATCTCTGTGAGGTCC -3'

Posted On

2016-07-22