Mutagenetix > Incidental Mutation

Incidental Mutation 'R4704:C87977'

356273

Institutional Source

Beutler Lab

Gene Symbol

C87977

Ensembl Gene

ENSMUSG00000046262

Gene Name

expressed sequence C87977

Synonyms

MMRRC Submission

041952-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R4704 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144206775-144213318 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144208592 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 193 (I193N)

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: I193N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000105754

Predicted Effect

probably damaging
Transcript: ENSMUST00000105755
AA Change: I23N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101381
Gene: ENSMUSG00000046262
AA Change: I23N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105757
AA Change: I193N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101383
Gene: ENSMUSG00000046262
AA Change: I193N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132946

Predicted Effect

probably benign
Transcript: ENSMUST00000146836

Predicted Effect

probably benign
Transcript: ENSMUST00000147855

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (89/92)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 131,357,530	M147K	probably damaging	Het
Abca13	A	G	11: 9,276,990	D582G	possibly damaging	Het
Abca2	T	C	2: 25,443,412	L1683P	probably damaging	Het
Adam39	A	G	8: 40,825,796	H408R	probably benign	Het
Adcy4	A	G	14: 55,775,025	S554P	possibly damaging	Het
Ahnak	T	G	19: 9,012,258		probably benign	Het
Ahnak	T	C	19: 9,013,181	I3943T	probably damaging	Het
Alkal2	T	A	12: 30,887,196	S109R	probably damaging	Het
Apobec4	A	G	1: 152,756,250	T10A	probably benign	Het
Arhgef40	A	G	14: 52,002,310	N1327S	probably damaging	Het
Arpc3	A	G	5: 122,400,408	M1V	probably null	Het
Ascc1	A	G	10: 60,049,802	Y225C	probably damaging	Het
Ascc3	A	G	10: 50,659,014	I668V	probably benign	Het
Bdnf	T	A	2: 109,723,692	M137K	possibly damaging	Het
Cacna1b	T	C	2: 24,654,463	D1231G	probably damaging	Het
Cds2	T	A	2: 132,300,602	Y239*	probably null	Het
Cpped1	G	A	16: 11,885,629		probably benign	Het
Ctu2	G	A	8: 122,479,303	R261Q	probably damaging	Het
Cux1	A	G	5: 136,249,201	V645A	probably benign	Het
Cyp4f13	A	G	17: 32,925,735	C401R	probably damaging	Het
Dpt	T	G	1: 164,818,949	Y162*	probably null	Het
Ednra	A	G	8: 77,667,963		probably benign	Het
Eepd1	A	G	9: 25,482,826	T129A	probably benign	Het
Eif2s1	A	G	12: 78,877,170	T134A	probably benign	Het
Eloa	A	G	4: 136,011,214	V145A	probably benign	Het
Enam	T	A	5: 88,503,791	L1053*	probably null	Het
Eng	T	C	2: 32,678,912	S484P	probably benign	Het
Eogt	A	T	6: 97,113,852	V442E	probably damaging	Het
Fam185a	C	T	5: 21,480,473		probably benign	Het
Gm4922	C	T	10: 18,784,819	V52I	probably benign	Het
Gnao1	A	G	8: 93,811,376	E14G	probably benign	Het
Gpr75	C	A	11: 30,891,110	A5D	probably benign	Het
Hbq1b	T	A	11: 32,287,448		probably benign	Het
Hdac7	G	A	15: 97,796,216	T724M	probably damaging	Het
Ifi204	C	A	1: 173,760,361		probably benign	Het
Ift88	A	G	14: 57,480,850		probably benign	Het
Irak4	A	G	15: 94,566,900		probably null	Het
Kalrn	T	C	16: 34,203,957	D610G	probably damaging	Het
Kifc2	T	C	15: 76,662,977		probably null	Het
Kmt2c	G	A	5: 25,314,027	Q2362*	probably null	Het
Kntc1	G	A	5: 123,811,433	E1956K	probably damaging	Het
Lama3	T	C	18: 12,553,223	V2781A	probably benign	Het
Lipt2	A	G	7: 100,160,327	E207G	probably damaging	Het
Mag	A	T	7: 30,909,173	L172Q	probably damaging	Het
Map1b	A	T	13: 99,430,475	C1913S	unknown	Het
Mical3	A	G	6: 120,958,688	S1626P	probably benign	Het
Mslnl	G	T	17: 25,738,978	W65L	possibly damaging	Het
Muc20	G	T	16: 32,779,074	A3332S	possibly damaging	Het
Nadk	C	A	4: 155,585,227	P157T	probably benign	Het
Nkx2-3	G	A	19: 43,612,684	E62K	probably damaging	Het
Olfr791	T	C	10: 129,526,302	L25P	possibly damaging	Het
Pclo	A	G	5: 14,676,480		probably benign	Het
Pcna-ps2	T	A	19: 9,283,422	V15E	possibly damaging	Het
Plekhg3	G	T	12: 76,578,238	G1285W	probably damaging	Het
Procr	A	G	2: 155,754,338	S142G	probably damaging	Het
Ptpn3	A	T	4: 57,270,119	N14K	possibly damaging	Het
Rin1	C	A	19: 5,054,990	L693I	probably damaging	Het
Ripk4	C	A	16: 97,746,004	E290*	probably null	Het
Rnf213	A	G	11: 119,440,349	Y2128C	probably damaging	Het
Saal1	T	C	7: 46,699,740		probably benign	Het
Selplg	T	C	5: 113,819,033	D404G	probably benign	Het
Serpinf1	C	A	11: 75,411,041	A263S	probably damaging	Het
Sgo2b	A	T	8: 63,927,790	D669E	probably damaging	Het
Slc30a9	T	C	5: 67,342,273		probably benign	Het
Sri	A	T	5: 8,062,430		probably null	Het
Sspo	G	A	6: 48,498,704	C4918Y	probably damaging	Het
Szt2	A	G	4: 118,393,829	Y361H	probably damaging	Het
Tbc1d12	T	A	19: 38,901,337	W404R	probably damaging	Het
Tcf20	T	C	15: 82,851,727	E1841G	possibly damaging	Het
Tep1	T	C	14: 50,837,073	T1832A	probably benign	Het
Tmem132e	G	A	11: 82,443,531	A623T	probably damaging	Het
Tmem201	A	T	4: 149,727,317	F357Y	possibly damaging	Het
Trappc13	T	G	13: 104,166,821		probably benign	Het
Trav6-5	C	T	14: 53,491,426	Q47*	probably null	Het
Ubxn1	T	A	19: 8,872,035	D47E	probably benign	Het
Vmn2r45	G	T	7: 8,483,536	S251*	probably null	Het
Wnk1	A	G	6: 119,965,744	L774S	possibly damaging	Het
Zfp189	T	C	4: 49,530,081	S395P	probably 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
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
R8737:C87977	UTSW	4	144208622	missense	probably damaging	1.00
R9703:C87977	UTSW	4	144212940	missense	probably damaging	0.97
Z1176:C87977	UTSW	4	144207461	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTCATCAAGCTTTTCAGAATCACC -3'
(R):5'- TGAAGGCTTACCAGAGTTCAC -3'

Sequencing Primer
(F):5'- CTTTTCAGAATCACCAAAACTGGAGG -3'
(R):5'- GGCTTACCAGAGTTCACGACAG -3'

Posted On

2015-10-21