Mutagenetix > Incidental Mutations

Incidental Mutation 'R6282:C87499'

507987

Institutional Source

Beutler Lab

Gene Symbol

C87499

Ensembl Gene

ENSMUSG00000038330

Gene Name

expressed sequence C87499

Synonyms

MMRRC Submission

Accession Numbers

Ncbi RefSeq:NM_198663.3; MGI:2140706

Is this an essential gene?

Possibly non essential (E-score: 0.323) question?

Stock #

R6282 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88627320-88634411 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88630054 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 38 (E38G)

Ref Sequence

ENSEMBL: ENSMUSP00000102761 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000053304
AA Change: E38G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056691
Gene: ENSMUSG00000038330
AA Change: E38G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107142
AA Change: E38G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000107143
AA Change: E38G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000134155

Predicted Effect

probably benign
Transcript: ENSMUST00000156062

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (45/46)

Allele List at MGI

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

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,800,769	L185Q	possibly damaging	Het
Abca6	A	T	11: 110,208,824	C966S	probably damaging	Het
Atp13a4	A	T	16: 29,434,004	I708N	probably benign	Het
Axin1	C	G	17: 26,143,037	D118E	probably damaging	Het
Bace2	A	T	16: 97,415,097	I297F	probably damaging	Het
Ccdc30	T	A	4: 119,324,017	D649V	probably damaging	Het
Cd180	G	A	13: 102,693,757	A20T	possibly damaging	Het
Cdk18	T	C	1: 132,120,020	D112G	probably damaging	Het
Cuedc1	A	G	11: 88,183,402	N254S	probably damaging	Het
Dnah7a	T	C	1: 53,503,601	H2470R	probably damaging	Het
Drap1	G	A	19: 5,424,436		probably null	Het
Fam196b	A	G	11: 34,402,819	D287G	possibly damaging	Het
Fbxo5	T	A	10: 5,801,216	K257M	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gm12790	A	G	4: 101,967,516	V185A	possibly damaging	Het
Gm7361	A	G	5: 26,260,413	N136S	probably benign	Het
Il10ra	C	A	9: 45,260,405	C255F	probably damaging	Het
Itgam	A	T	7: 128,084,942	T340S	probably benign	Het
Ktn1	A	T	14: 47,663,971	N62I	probably damaging	Het
Ldb2	A	G	5: 44,532,665	L204P	probably damaging	Het
Map2k4	T	C	11: 65,707,016	T90A	possibly damaging	Het
Mettl3	A	T	14: 52,297,971	D287E	probably benign	Het
Mier2	A	G	10: 79,544,742	F278S	probably damaging	Het
Mis18bp1	A	G	12: 65,149,163	M609T	probably benign	Het
Myo1d	A	T	11: 80,557,512	V929D	probably damaging	Het
Naprt	A	T	15: 75,891,979	M364K	probably benign	Het
Nod2	T	A	8: 88,670,460	C833S	probably benign	Het
Nrip3	C	T	7: 109,763,479		probably null	Het
Ntsr2	A	G	12: 16,658,425	Y320C	probably damaging	Het
Olfr1178	C	A	2: 88,391,533	C95*	probably null	Het
Olfr555	G	A	7: 102,659,647	M275I	probably benign	Het
Olfr761	G	A	17: 37,952,424	S200F	possibly damaging	Het
Osbpl3	A	T	6: 50,348,083		probably null	Het
Pcdhb3	C	T	18: 37,301,646	R222C	probably damaging	Het
Pik3cd	G	T	4: 149,659,743	R184S	probably benign	Het
Rad50	A	T	11: 53,669,770		probably null	Het
Rad51ap2	A	T	12: 11,457,559	H494L	probably benign	Het
Rbm25	T	C	12: 83,676,089	M762T	probably damaging	Het
Sars	G	T	3: 108,428,274	S338*	probably null	Het
Usp35	T	C	7: 97,325,948	E6G	probably damaging	Het
Vash2	T	C	1: 190,960,225	Y251C	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wdr20	T	A	12: 110,797,009		probably benign	Het
Wfdc1	G	A	8: 119,679,407	C87Y	probably damaging	Het
Zfp985	T	A	4: 147,583,348	H224Q	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	splice site	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
R5229:C87499	UTSW	4	88630135	missense	possibly damaging	0.92
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
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
R8044:C87499	UTSW	4	88629975	missense	possibly damaging	0.47
RF012:C87499	UTSW	4	88627769	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AACCTTTGGTGCAAGCAGTATATC -3'
(R):5'- CATCAGCAGTGATCTAGCCC -3'

Sequencing Primer
(F):5'- GGTGCAAGCAGTATATCTAGTCCC -3'
(R):5'- GCAGTGATCTAGCCCTCATAC -3'

Posted On

2018-03-15