Mutagenetix > Incidental Mutations

Incidental Mutation 'R8737:C87977'

663080

Institutional Source

Beutler Lab

Gene Symbol

C87977

Ensembl Gene

ENSMUSG00000046262

Gene Name

expressed sequence C87977

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R8737 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144206775-144213318 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 144208622 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 183 (L183R)

Ref Sequence

ENSEMBL: ENSMUSP00000101383 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105753] [ENSMUST00000105754] [ENSMUST00000105755] [ENSMUST00000105757] [ENSMUST00000146836] [ENSMUST00000147855]

AlphaFold

A2A958

Predicted Effect

probably damaging
Transcript: ENSMUST00000105753
AA Change: L183R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000105754

Predicted Effect

probably damaging
Transcript: ENSMUST00000105755
AA Change: L13R

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

SMART Domains

Protein: ENSMUSP00000101381
Gene: ENSMUSG00000046262
AA Change: L13R

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	52	250	9e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105757
AA Change: L183R

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

SMART Domains

Protein: ENSMUSP00000101383
Gene: ENSMUSG00000046262
AA Change: L183R

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	222	420	1e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146836

Predicted Effect

probably damaging
Transcript: ENSMUST00000147855
AA Change: L185R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833423E24Rik	T	A	2: 85,494,043		probably benign	Het
Aff3	T	A	1: 38,269,729	D375V	probably damaging	Het
Agfg1	C	G	1: 82,893,522	P492A	probably benign	Het
Asb13	T	C	13: 3,642,089	V23A	probably damaging	Het
Atxn1l	A	T	8: 109,733,598	C11S	probably damaging	Het
Bbs9	T	G	9: 22,678,948	S661A	probably benign	Het
Btrc	T	C	19: 45,507,759	V211A	probably damaging	Het
C130060K24Rik	A	G	6: 65,456,276	K360R	probably benign	Het
Camk1g	T	C	1: 193,348,486		probably null	Het
Capn11	A	T	17: 45,632,875	L578I	probably benign	Het
Cd82	A	T	2: 93,421,894	I124N	probably damaging	Het
Cdkl4	G	T	17: 80,550,829	H120Q	probably benign	Het
Cftr	T	C	6: 18,319,729	V1393A	probably damaging	Het
Col14a1	A	T	15: 55,455,310	R1402*	probably null	Het
Col6a3	T	G	1: 90,800,025	Y1960S	probably benign	Het
Col9a1	A	T	1: 24,185,046	Y103F	unknown	Het
Cux1	A	G	5: 136,282,942	V1180A	probably damaging	Het
Cyp17a1	A	T	19: 46,669,727	C249S	probably benign	Het
Derl1	A	T	15: 57,892,172	W42R	probably benign	Het
Dhx36	C	A	3: 62,479,326	M668I	probably benign	Het
Dnah6	T	C	6: 73,067,445	K3228E	possibly damaging	Het
Dst	C	T	1: 34,228,669	A3050V	probably benign	Het
Efr3b	A	G	12: 3,999,594	Y70H	probably damaging	Het
Epb42	T	A	2: 121,025,843	T407S	possibly damaging	Het
Fap	T	A	2: 62,512,433	I608L	probably benign	Het
Fblim1	A	G	4: 141,583,076	Y292H	probably benign	Het
Fmod	A	G	1: 134,040,305	I28V	probably benign	Het
Gad2	T	A	2: 22,634,973	Y256*	probably null	Het
Gapdh	G	A	6: 125,162,054	A353V	probably benign	Het
Gm5460	T	G	14: 34,017,192	W44G	unknown	Het
Ino80e	A	T	7: 126,861,802	V91D	probably benign	Het
Iqgap2	G	A	13: 95,665,750	P896S	probably damaging	Het
Kif26b	T	A	1: 178,864,865	I457N	probably damaging	Het
Klc2	T	A	19: 5,118,449		probably benign	Het
Ldlrap1	C	A	4: 134,767,836	W22L	probably benign	Het
Matn3	A	G	12: 8,967,665	D439G	possibly damaging	Het
Met	T	C	6: 17,540,511	L812P	probably benign	Het
Mki67	A	T	7: 135,713,775	I90N	probably damaging	Het
Mptx2	A	C	1: 173,277,689	S12A	probably benign	Het
Mrgpra9	G	T	7: 47,235,876	N14K	probably benign	Het
Nbeal2	G	A	9: 110,627,881	R2350C	probably damaging	Het
Nsmaf	A	G	4: 6,396,748	I913T	probably benign	Het
Nuggc	G	T	14: 65,645,086	C760F	probably benign	Het
Olfr1215	C	A	2: 89,002,007	E94*	probably null	Het
Olfr1392	T	A	11: 49,294,138	F272L	probably damaging	Het
Olfr341	T	A	2: 36,479,617	N171I	probably benign	Het
Olfr512	T	A	7: 108,713,757	F135I	probably damaging	Het
Olfr65	A	G	7: 103,906,706	N86S		Het
Pdgfrb	C	T	18: 61,081,001	P953S	probably damaging	Het
Pemt	T	G	11: 59,983,459	I102L	probably benign	Het
Pla2g4c	G	T	7: 13,335,229	M109I	probably benign	Het
Pla2g4d	T	A	2: 120,269,985	Y622F	probably damaging	Het
Pmpca	T	A	2: 26,393,519	V400D	probably damaging	Het
Pnpt1	G	C	11: 29,154,815		probably null	Het
Prrc1	T	A	18: 57,363,336	S120T	possibly damaging	Het
Prrx2	T	G	2: 30,878,566	V135G	probably damaging	Het
Recql4	T	C	15: 76,708,854	N352S	probably benign	Het
Sftpa1	T	C	14: 41,134,087	S130P	probably damaging	Het
Slc35e2	T	C	4: 155,610,585	L136P	probably benign	Het
Tarbp2	T	A	15: 102,521,767	S155T	probably benign	Het
Tenm4	C	T	7: 96,905,941	P2618S	probably benign	Het
Tmem116	A	T	5: 121,482,370	Y146F		Het
Ttc17	C	T	2: 94,376,029		probably null	Het
Vmn2r114	G	A	17: 23,310,168	T320I	probably benign	Het
Vmn2r69	A	T	7: 85,406,575	V785D	probably damaging	Het
Vmn2r89	T	A	14: 51,456,265	N357K	probably damaging	Het
Zfp811	A	T	17: 32,798,223	L281Q	possibly damaging	Het

Other mutations in C87977

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:C87977	APN	4	144208475	missense	possibly damaging	0.58
IGL02950:C87977	APN	4	144212961	missense	probably benign	0.06
IGL03174:C87977	APN	4	144208430	missense	probably benign
IGL03178:C87977	APN	4	144208251	critical splice donor site	probably null
PIT4812001:C87977	UTSW	4	144209516	missense	probably benign
R0622:C87977	UTSW	4	144213013	unclassified	probably benign
R0634:C87977	UTSW	4	144209340	critical splice donor site	probably null
R1127:C87977	UTSW	4	144207124	missense	probably damaging	1.00
R1341:C87977	UTSW	4	144207559	missense	probably damaging	1.00
R1697:C87977	UTSW	4	144208592	missense	probably damaging	1.00
R1827:C87977	UTSW	4	144209610	missense	probably damaging	0.99
R1857:C87977	UTSW	4	144208521	missense	possibly damaging	0.74
R2859:C87977	UTSW	4	144209622	missense	probably benign	0.11
R4063:C87977	UTSW	4	144208695	missense	possibly damaging	0.87
R4114:C87977	UTSW	4	144209603	missense	probably damaging	1.00
R4130:C87977	UTSW	4	144208809	missense	probably damaging	0.99
R4255:C87977	UTSW	4	144207484	missense	possibly damaging	0.68
R4704:C87977	UTSW	4	144208592	missense	probably damaging	1.00
R4840:C87977	UTSW	4	144208574	missense	probably damaging	0.98
R5267:C87977	UTSW	4	144213005	unclassified	probably benign
R5670:C87977	UTSW	4	144209622	missense	probably benign	0.11
R6149:C87977	UTSW	4	144207413	missense	probably damaging	0.98
R6508:C87977	UTSW	4	144207601	nonsense	probably null
R6528:C87977	UTSW	4	144208811	missense	probably damaging	0.99
R7252:C87977	UTSW	4	144212940	missense	possibly damaging	0.95
R7564:C87977	UTSW	4	144212955	missense	probably damaging	1.00
R7704:C87977	UTSW	4	144208521	missense	possibly damaging	0.74
Z1176:C87977	UTSW	4	144207461	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGACTTTTCATCAGTTTCAGGTAGGG -3'
(R):5'- CACAGTAGGTGCAAACTCAGAG -3'

Sequencing Primer
(F):5'- GGGATTAAGAAAAGCCAACTCTTC -3'
(R):5'- GGTGCAAACTCAGAGTAATTAATTGG -3'

Posted On

2021-03-08