Mutagenetix > Incidental Mutation

Incidental Mutation 'R7399:C87499'

574010

Institutional Source

Beutler Lab

Gene Symbol

C87499

Ensembl Gene

ENSMUSG00000038330

Gene Name

expressed sequence C87499

Synonyms

MMRRC Submission

045481-MU

Accession Numbers

Ncbi RefSeq:NM_198663.3; MGI:2140706

Essential gene?

Possibly non essential (E-score: 0.367) question?

Stock #

R7399 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88627320-88634411 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 88627965 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 380 (R380L)

Ref Sequence

ENSEMBL: ENSMUSP00000056691 (fasta)

Gene Model

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

AlphaFold

Q3UX49

Predicted Effect

probably benign
Transcript: ENSMUST00000053304
AA Change: R380L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000056691
Gene: ENSMUSG00000038330
AA Change: R380L

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 benign
Transcript: ENSMUST00000134155

Predicted Effect

probably benign
Transcript: ENSMUST00000156062

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (74/75)

Allele List at MGI

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

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,260,679 (GRCm38)	V801G	possibly damaging	Het
Actbl2	T	A	13: 111,255,593 (GRCm38)	M154K	probably benign	Het
Adam7	A	T	14: 68,504,466 (GRCm38)		probably null	Het
Arfgef1	T	A	1: 10,180,897 (GRCm38)	T888S	probably benign	Het
AW554918	C	T	18: 25,169,060 (GRCm38)	P10L	possibly damaging	Het
Bcap29	A	G	12: 31,630,882 (GRCm38)	I35T	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857 (GRCm38)	254	probably null	Het
Cdc25b	A	G	2: 131,194,654 (GRCm38)	D458G	probably damaging	Het
Cdc42bpb	T	C	12: 111,305,667 (GRCm38)	K1104R	probably benign	Het
Cep89	A	G	7: 35,438,378 (GRCm38)	N729S	probably damaging	Het
Clec4a4	T	A	6: 122,991,829 (GRCm38)	M51K	possibly damaging	Het
Dcdc2b	A	G	4: 129,609,629 (GRCm38)	L270P	probably damaging	Het
Dennd5b	G	T	6: 149,036,483 (GRCm38)	H639N	probably damaging	Het
Dnah11	T	C	12: 118,125,785 (GRCm38)	E1182G	probably damaging	Het
Dnah11	T	G	12: 118,027,477 (GRCm38)	T2385P	probably benign	Het
Dok7	T	C	5: 35,066,471 (GRCm38)	V81A	probably damaging	Het
Dtx1	T	A	5: 120,682,393 (GRCm38)	M494L	possibly damaging	Het
Foxj1	A	T	11: 116,332,254 (GRCm38)	L241Q	possibly damaging	Het
Gbp10	G	A	5: 105,236,149 (GRCm38)		probably benign	Het
Hnmt	T	A	2: 24,003,880 (GRCm38)	T201S	probably benign	Het
Jup	G	T	11: 100,378,351 (GRCm38)	T412K	possibly damaging	Het
Kcnh2	G	A	5: 24,322,059 (GRCm38)	S954F	probably damaging	Het
Klhdc7b	A	C	15: 89,388,644 (GRCm38)	K585T	possibly damaging	Het
Klk7	T	A	7: 43,812,000 (GRCm38)	S14T	probably benign	Het
Lama4	G	A	10: 39,047,948 (GRCm38)	E451K	probably damaging	Het
Ldhb	A	G	6: 142,495,673 (GRCm38)	C164R	probably damaging	Het
Malrd1	G	A	2: 15,610,090 (GRCm38)	D239N		Het
Mgam	T	A	6: 40,666,854 (GRCm38)	V572E	probably damaging	Het
Mrgprb2	G	T	7: 48,552,142 (GRCm38)	N278K	probably damaging	Het
Msto1	A	G	3: 88,911,823 (GRCm38)	Y206H	probably damaging	Het
Myo6	A	G	9: 80,262,291 (GRCm38)	S467G	unknown	Het
Mysm1	T	A	4: 94,961,727 (GRCm38)	I447L	probably benign	Het
Nav3	T	C	10: 109,852,934 (GRCm38)	E494G	possibly damaging	Het
Nol10	T	G	12: 17,402,173 (GRCm38)	V376G	probably damaging	Het
Nup205	T	A	6: 35,214,676 (GRCm38)	I1032N	probably damaging	Het
Olfr1002	T	A	2: 85,647,424 (GRCm38)	D299V	possibly damaging	Het
Olfr1100	G	A	2: 86,978,157 (GRCm38)	T213I	probably benign	Het
Olfr1170	A	T	2: 88,225,022 (GRCm38)	Y3*	probably null	Het
Olfr1450	A	G	19: 12,954,447 (GRCm38)	N286S	probably damaging	Het
Olfr449	T	G	6: 42,838,746 (GRCm38)	Y288*	probably null	Het
Olfr455	A	G	6: 42,538,728 (GRCm38)	F98S	possibly damaging	Het
Olfr617	A	T	7: 103,584,381 (GRCm38)	I120L	possibly damaging	Het
Olfr782	A	T	10: 129,350,557 (GRCm38)		probably benign	Het
Olfr996	A	G	2: 85,579,296 (GRCm38)	D19G	probably benign	Het
Oog2	A	G	4: 144,195,281 (GRCm38)	K254E	probably benign	Het
Osbpl11	T	A	16: 33,236,279 (GRCm38)	D694E	probably benign	Het
Pcm1	T	A	8: 41,293,510 (GRCm38)	Y1210N	probably benign	Het
Pdxk	T	C	10: 78,440,863 (GRCm38)	M293V	probably benign	Het
Plcb3	T	C	19: 6,962,867 (GRCm38)	I451V	probably benign	Het
Plekhm2	A	G	4: 141,634,376 (GRCm38)	F272S	probably damaging	Het
Ptgdr	A	T	14: 44,858,232 (GRCm38)		probably null	Het
Ptprf	C	T	4: 118,226,523 (GRCm38)	V788I	probably benign	Het
Ralbp1	C	T	17: 65,854,148 (GRCm38)	V467I	probably benign	Het
Ralgds	A	C	2: 28,543,655 (GRCm38)	Q229P	possibly damaging	Het
Recql	T	C	6: 142,374,884 (GRCm38)	D146G	probably damaging	Het
Reln	T	C	5: 22,051,367 (GRCm38)	N493S	probably damaging	Het
Rfxank	C	T	8: 70,135,286 (GRCm38)		probably null	Het
Scn5a	A	T	9: 119,486,530 (GRCm38)	M1704K	probably damaging	Het
Slc7a7	G	T	14: 54,374,268 (GRCm38)	A316E	possibly damaging	Het
Slco1a6	A	T	6: 142,091,068 (GRCm38)	C538S	probably benign	Het
Spert	A	G	14: 75,592,637 (GRCm38)	S39P	probably benign	Het
Stard6	T	C	18: 70,498,647 (GRCm38)		probably null	Het
Strip2	T	A	6: 29,927,613 (GRCm38)	M219K	possibly damaging	Het
Tcam1	T	C	11: 106,284,085 (GRCm38)	V122A	probably damaging	Het
Tha1	A	G	11: 117,869,690 (GRCm38)	V236A	possibly damaging	Het
Tmem201	A	T	4: 149,731,097 (GRCm38)	I132N	possibly damaging	Het
Tnc	T	C	4: 64,020,657 (GRCm38)		probably benign	Het
Vmn1r42	T	C	6: 89,845,513 (GRCm38)	T25A	probably benign	Het
Vmn2r94	T	A	17: 18,244,503 (GRCm38)		probably null	Het
Wdfy4	A	C	14: 33,068,906 (GRCm38)	V2188G		Het
Zfp623	T	C	15: 75,947,398 (GRCm38)	S68P	probably damaging	Het
Zfp950	A	T	19: 61,119,155 (GRCm38)	C497S	probably damaging	Het
Zkscan2	C	T	7: 123,480,104 (GRCm38)	E877K	probably damaging	Het
Zp3r	C	A	1: 130,577,053 (GRCm38)	V536L	probably damaging	Het

Other mutations in C87499

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:C87499	APN	4	88,629,070 (GRCm38)	missense	probably benign	0.43
IGL00229:C87499	APN	4	88,629,053 (GRCm38)	missense	probably damaging	0.99
IGL01938:C87499	APN	4	88,629,363 (GRCm38)	missense	possibly damaging	0.90
IGL02321:C87499	APN	4	88,630,103 (GRCm38)	missense	probably benign	0.33
IGL02351:C87499	APN	4	88,627,890 (GRCm38)	missense	probably damaging	1.00
IGL02358:C87499	APN	4	88,627,890 (GRCm38)	missense	probably damaging	1.00
P0005:C87499	UTSW	4	88,627,950 (GRCm38)	missense	probably damaging	1.00
R0521:C87499	UTSW	4	88,629,322 (GRCm38)	missense	probably damaging	0.96
R0578:C87499	UTSW	4	88,634,139 (GRCm38)	missense	probably benign	0.01
R0600:C87499	UTSW	4	88,629,299 (GRCm38)	missense	probably damaging	1.00
R0750:C87499	UTSW	4	88,627,668 (GRCm38)	missense	probably benign	0.01
R1483:C87499	UTSW	4	88,628,834 (GRCm38)	missense	probably damaging	1.00
R1502:C87499	UTSW	4	88,628,032 (GRCm38)	missense	probably benign	0.00
R1911:C87499	UTSW	4	88,630,072 (GRCm38)	missense	possibly damaging	0.93
R2204:C87499	UTSW	4	88,628,118 (GRCm38)	missense	probably damaging	0.99
R2507:C87499	UTSW	4	88,629,211 (GRCm38)	missense	possibly damaging	0.89
R2512:C87499	UTSW	4	88,628,958 (GRCm38)	missense	probably damaging	0.99
R4299:C87499	UTSW	4	88,628,182 (GRCm38)	missense	probably damaging	0.97
R4498:C87499	UTSW	4	88,628,892 (GRCm38)	splice site	probably null
R4656:C87499	UTSW	4	88,629,965 (GRCm38)	missense	probably benign	0.41
R4787:C87499	UTSW	4	88,629,213 (GRCm38)	nonsense	probably null
R4823:C87499	UTSW	4	88,629,215 (GRCm38)	missense	probably damaging	1.00
R4885:C87499	UTSW	4	88,627,982 (GRCm38)	missense	possibly damaging	0.50
R4948:C87499	UTSW	4	88,628,948 (GRCm38)	missense	probably damaging	1.00
R4967:C87499	UTSW	4	88,629,195 (GRCm38)	missense	probably damaging	1.00
R5229:C87499	UTSW	4	88,630,135 (GRCm38)	missense	possibly damaging	0.92
R5426:C87499	UTSW	4	88,629,410 (GRCm38)	intron	probably benign
R5520:C87499	UTSW	4	88,630,040 (GRCm38)	missense	probably damaging	1.00
R5574:C87499	UTSW	4	88,628,043 (GRCm38)	missense	probably benign	0.10
R5596:C87499	UTSW	4	88,630,055 (GRCm38)	missense	probably damaging	1.00
R6282:C87499	UTSW	4	88,630,054 (GRCm38)	missense	probably damaging	1.00
R6366:C87499	UTSW	4	88,628,865 (GRCm38)	missense	probably damaging	0.99
R6808:C87499	UTSW	4	88,630,054 (GRCm38)	missense	probably damaging	1.00
R6866:C87499	UTSW	4	88,627,740 (GRCm38)	missense	probably damaging	1.00
R7105:C87499	UTSW	4	88,630,102 (GRCm38)	missense	probably damaging	0.98
R7117:C87499	UTSW	4	88,628,958 (GRCm38)	missense	probably damaging	0.99
R7319:C87499	UTSW	4	88,629,947 (GRCm38)	missense	probably benign	0.25
R7345:C87499	UTSW	4	88,628,179 (GRCm38)	missense	possibly damaging	0.88
R7626:C87499	UTSW	4	88,630,042 (GRCm38)	missense	probably damaging	1.00
R7751:C87499	UTSW	4	88,629,119 (GRCm38)	missense	probably benign	0.05
R8044:C87499	UTSW	4	88,629,975 (GRCm38)	missense	possibly damaging	0.47
R8849:C87499	UTSW	4	88,627,777 (GRCm38)	missense	probably benign	0.03
R9334:C87499	UTSW	4	88,629,949 (GRCm38)	missense	probably damaging	0.99
R9515:C87499	UTSW	4	88,627,982 (GRCm38)	missense	possibly damaging	0.50
RF012:C87499	UTSW	4	88,627,769 (GRCm38)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CTGTGTGTTTCAACTCCACG -3'
(R):5'- AGACTTTGTGCCTCCGATAC -3'

Sequencing Primer
(F):5'- GCATGTTATCATAGCACTCCTGAGG -3'
(R):5'- GATACTGTTTTCTCTCACAGACGGAC -3'

Posted On

2019-09-13