Mutagenetix > Incidental Mutations

Incidental Mutation 'R7626:C87499'

589433

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: 0.392) question?

Stock #

R7626 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88627320-88634411 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88630042 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 42 (I42N)

Ref Sequence

ENSEMBL: ENSMUSP00000056691 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000053304
AA Change: I42N

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

SMART Domains

Protein: ENSMUSP00000056691
Gene: ENSMUSG00000038330
AA Change: I42N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107142
AA Change: I42N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107143
AA Change: I42N

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

0.4350

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

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

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Alox5	T	C	6: 116,413,795	D465G	possibly damaging	Het
Arhgef16	T	A	4: 154,282,882	K355N	possibly damaging	Het
Camkk2	T	A	5: 122,764,300		probably benign	Het
Ccdc171	C	T	4: 83,580,775	Q237*	probably null	Het
Ces2b	T	C	8: 104,837,385	Y464H	possibly damaging	Het
Cntfr	A	G	4: 41,662,013	F243S	possibly damaging	Het
Crip3	A	T	17: 46,429,865	R65S	probably benign	Het
Dcn	A	G	10: 97,483,478	Y39C	possibly damaging	Het
Degs2	T	C	12: 108,692,073	S216G	possibly damaging	Het
Dmxl1	A	G	18: 49,902,794	I2295V	probably benign	Het
Dnah2	A	G	11: 69,498,685	S794P	probably damaging	Het
Eri1	A	C	8: 35,474,400	Y264*	probably null	Het
Etl4	T	C	2: 20,713,378	L179P	probably damaging	Het
F5	T	G	1: 164,186,912	M584R	possibly damaging	Het
Fam98c	G	T	7: 29,152,823	R104S	probably damaging	Het
Flad1	A	T	3: 89,403,411	I443N	probably benign	Het
Hbp1	T	C	12: 31,943,900	E43G	probably benign	Het
Hivep3	CGG	CG	4: 120,097,911		probably null	Het
Kcnj3	T	A	2: 55,594,821	C310*	probably null	Het
Lct	T	C	1: 128,285,195	Y1907C	probably damaging	Het
Loxhd1	T	C	18: 77,431,186	V1896A	possibly damaging	Het
Lrfn4	C	A	19: 4,613,651	R285L	probably damaging	Het
Ltb4r2	T	A	14: 55,762,881	S320T	probably damaging	Het
Mmd	G	T	11: 90,257,552	R20L	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Nbas	T	C	12: 13,558,660	S2146P	probably benign	Het
Nop14	A	G	5: 34,651,791	F319L	probably damaging	Het
Numa1	C	A	7: 101,999,423	T787K	probably benign	Het
Olfr1495	T	G	19: 13,768,345	M1R	probably null	Het
Olfr325	A	C	11: 58,581,173	T110P	probably damaging	Het
Olfr784	T	G	10: 129,387,857	C75G	possibly damaging	Het
Patj	T	C	4: 98,546,987	V2A	probably benign	Het
Pisd	T	C	5: 32,740,688	H52R	probably benign	Het
Plekhg6	A	T	6: 125,363,668	D576E	probably benign	Het
Plekhn1	T	A	4: 156,225,653	H68L	probably benign	Het
Ppp1r37	T	A	7: 19,561,853	I60F	probably damaging	Het
Ppp2r1b	C	T	9: 50,878,176	T513M	possibly damaging	Het
Rhobtb2	C	A	14: 69,796,937	A280S	probably damaging	Het
Rnf40	A	G	7: 127,589,875	D140G	probably benign	Het
Rxfp1	A	G	3: 79,648,090	L653P	probably damaging	Het
Satb1	A	T	17: 51,767,967	D500E	probably benign	Het
Slc15a1	A	T	14: 121,475,965	D383E	probably benign	Het
Smarcad1	C	A	6: 65,096,049	S604R	possibly damaging	Het
St7	A	G	6: 17,934,217	T533A	probably damaging	Het
Sv2c	T	A	13: 95,985,943	T442S	probably benign	Het
Tbx2	A	G	11: 85,840,796	T640A	probably benign	Het
Tenm4	T	A	7: 96,893,014	N1948K	probably damaging	Het
Tll1	T	C	8: 64,098,234		probably null	Het
Tmem135	A	T	7: 89,156,510		probably null	Het
Tonsl	A	T	15: 76,633,936	L582Q	probably null	Het
Unc13c	T	A	9: 73,734,517	K1231N	probably damaging	Het
Vmn2r101	T	A	17: 19,611,930	Y729*	probably null	Het
Zcchc2	A	G	1: 106,001,012	T334A	possibly damaging	Het
Zfp655	T	C	5: 145,237,107	L136P	probably damaging	Het
Zfp729a	A	T	13: 67,620,318	C597*	probably null	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
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
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'- CGAACCTTTGGTGCAAGCAG -3'
(R):5'- TCAGCAGTGATCTAGCCCTC -3'

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

Posted On

2019-10-24