Mutagenetix > Incidental Mutation

Incidental Mutation 'R6366:C87499'

512679

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

Essential gene?

Possibly non essential (E-score: 0.370) question?

Stock #

R6366 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88627320-88634411 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88628865 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 106 (I106F)

Ref Sequence

ENSEMBL: ENSMUSP00000138546 (fasta)

Gene Model

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

AlphaFold

Q3UX49

Predicted Effect

probably benign
Transcript: ENSMUST00000053304
AA Change: I277F

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000056691
Gene: ENSMUSG00000038330
AA Change: I277F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107142

Predicted Effect

probably benign
Transcript: ENSMUST00000107143

Predicted Effect

probably damaging
Transcript: ENSMUST00000134155
AA Change: I106F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000156062

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.0%
20x: 93.4%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	A	G	2: 111,169,592		probably null	Het
Agl	A	G	3: 116,791,117	F185L	probably damaging	Het
Ank3	A	G	10: 69,999,358	D131G	probably damaging	Het
Boc	T	C	16: 44,487,652	K947E	probably benign	Het
Ccdc110	A	G	8: 45,943,388	E772G	probably damaging	Het
Ccdc7a	A	G	8: 128,855,992	V1055A	unknown	Het
Chd1l	A	G	3: 97,594,160	V190A	probably benign	Het
Chl1	C	A	6: 103,729,236	N396K	possibly damaging	Het
CN725425	T	G	15: 91,246,921	Y420D	possibly damaging	Het
Col6a1	A	T	10: 76,710,970	I806N	unknown	Het
Csmd2	A	G	4: 128,483,452	K2042E	probably benign	Het
Eif4a1	G	T	11: 69,670,955	D15E	probably benign	Het
Etfb	T	C	7: 43,452,941	L119S	probably damaging	Het
Fbxo42	T	A	4: 141,199,949	S513R	probably benign	Het
Gm8765	T	C	13: 50,701,936	Y537H	probably benign	Het
Gys2	C	A	6: 142,463,394	C45F	probably benign	Het
Hspa1a	G	A	17: 34,970,524	P468S	probably damaging	Het
Kdm2a	G	T	19: 4,324,932	Q724K	probably benign	Het
Lama3	G	T	18: 12,482,137	G1373W	probably damaging	Het
Lhx1	A	T	11: 84,522,208	F84Y	probably damaging	Het
Lpxn	G	A	19: 12,824,799	V163M	probably benign	Het
Lrrc7	T	C	3: 158,135,375	Q1389R	probably benign	Het
Lrtm2	T	C	6: 119,317,277	R298G	probably damaging	Het
Ltv1	A	G	10: 13,180,995	V268A	probably benign	Het
Mgat4d	T	A	8: 83,368,951		probably null	Het
Mknk2	C	A	10: 80,671,933	R33L	probably damaging	Het
Ms4a1	A	G	19: 11,258,698	S42P	probably damaging	Het
Muc16	T	C	9: 18,646,044	I2984M	unknown	Het
Mup12	A	C	4: 60,740,658	F74V	probably damaging	Het
Nacad	A	C	11: 6,601,196	L665R	probably benign	Het
Pde6a	T	A	18: 61,265,071		probably null	Het
Plb1	A	G	5: 32,314,085	N579D	possibly damaging	Het
Podn	T	A	4: 108,018,804	I552F	possibly damaging	Het
Prl3b1	A	T	13: 27,243,892	M62L	probably benign	Het
Ptpn13	G	T	5: 103,551,053	R1134L	probably damaging	Het
Rpl37	T	A	15: 5,118,508		probably null	Het
Samd4	T	A	14: 47,074,150		probably null	Het
Sh3rf2	T	C	18: 42,153,065	V541A	probably benign	Het
Shcbp1	A	G	8: 4,749,380	V335A	probably damaging	Het
Slc7a7	T	C	14: 54,374,600	Y282C	probably damaging	Het
Spag7	T	C	11: 70,664,592	K125E	possibly damaging	Het
Sptan1	T	C	2: 30,020,455	S1831P	possibly damaging	Het
Stab1	T	C	14: 31,141,438	K2097R	probably benign	Het
Stk38	A	G	17: 28,974,364	W364R	probably benign	Het
Tectb	G	A	19: 55,181,918	G67D	probably damaging	Het
Ttll9	G	T	2: 152,991,605	D208Y	probably damaging	Het
Tyro3	G	A	2: 119,816,675	D758N	probably damaging	Het
Tyw1	T	C	5: 130,281,951		probably benign	Het
Unc5b	C	T	10: 60,778,312	A253T	probably benign	Het
Wtap	A	T	17: 12,968,058		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
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
R8849:C87499	UTSW	4	88627777	missense	probably benign	0.03
R9334:C87499	UTSW	4	88629949	missense	probably damaging	0.99
R9515:C87499	UTSW	4	88627982	missense	possibly damaging	0.50
RF012:C87499	UTSW	4	88627769	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATGCTTGTGCCTGGTCATAC -3'
(R):5'- TGCAAACTGTGTGCAGGAG -3'

Sequencing Primer
(F):5'- AGCTCATCTGCTCAGATATGCTATG -3'
(R):5'- TGTGCAGGAGCTGGAGC -3'

Posted On

2018-04-27