Mutagenetix > Incidental Mutations

Incidental Mutation 'R1127:C87977'

96280

Institutional Source

Beutler Lab

Gene Symbol

C87977

Ensembl Gene

ENSMUSG00000046262

Gene Name

expressed sequence C87977

Synonyms

MMRRC Submission

039200-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R1127 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144206775-144213318 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 144207124 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 471 (T471I)

Ref Sequence

ENSEMBL: ENSMUSP00000101383 (fasta)

Gene Model

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

AlphaFold

A2A958

Predicted Effect

probably benign
Transcript: ENSMUST00000105753

Predicted Effect

probably benign
Transcript: ENSMUST00000105754

Predicted Effect

probably damaging
Transcript: ENSMUST00000105755
AA Change: T301I

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

SMART Domains

Protein: ENSMUSP00000101381
Gene: ENSMUSG00000046262
AA Change: T301I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105757
AA Change: T471I

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

SMART Domains

Protein: ENSMUSP00000101383
Gene: ENSMUSG00000046262
AA Change: T471I

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

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.1%
20x: 80.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	C	15: 79,135,203	D179G	probably benign	Het
Adh7	C	T	3: 138,221,729	A12V	probably benign	Het
Ankhd1	T	A	18: 36,634,346	N1179K	probably damaging	Het
Ankrd50	T	C	3: 38,457,187	T344A	probably benign	Het
Aplf	T	C	6: 87,646,291	T269A	probably benign	Het
Cavin4	T	C	4: 48,663,637	S6P	probably damaging	Het
Ces2g	T	C	8: 104,967,462		probably null	Het
Cyp2c66	A	T	19: 39,163,368	N176Y	probably damaging	Het
Dnah3	T	A	7: 119,923,030	D3980V	probably damaging	Het
Drc7	G	T	8: 95,072,788	E530D	probably damaging	Het
Dst	A	G	1: 34,275,277	T6434A	probably damaging	Het
Dtx3l	A	G	16: 35,938,757	S41P	possibly damaging	Het
Eef1b2	G	A	1: 63,179,457		probably null	Het
Eml3	C	T	19: 8,936,308	T43I	probably damaging	Het
Fam110b	T	A	4: 5,799,434	L284Q	probably damaging	Het
Gm5538	G	A	3: 59,751,893	E256K	probably benign	Het
Gpr33	A	C	12: 52,023,469	H262Q	probably damaging	Het
Igfals	T	G	17: 24,880,481	L182R	probably damaging	Het
Lamc1	A	G	1: 153,250,459	F496L	possibly damaging	Het
Mgea5	G	A	19: 45,752,155	R914*	probably null	Het
Muc4	T	A	16: 32,750,525	H134Q	possibly damaging	Het
Nckap1	C	T	2: 80,517,942	S889N	probably benign	Het
Nxn	A	T	11: 76,274,069	C205*	probably null	Het
Olfr323	T	C	11: 58,625,458	E196G	probably damaging	Het
Olfr651	C	A	7: 104,553,086	H56N	possibly damaging	Het
Pamr1	A	T	2: 102,639,353	I415F	possibly damaging	Het
Ppp4r4	G	A	12: 103,579,068	G200E	probably damaging	Het
Prdm16	C	A	4: 154,528,799	S57I	probably damaging	Het
Psmd11	A	G	11: 80,471,584	K157R	possibly damaging	Het
Ptprn2	G	A	12: 117,212,008		probably null	Het
Pus7	G	A	5: 23,768,795	H234Y	probably benign	Het
Rd3l	A	G	12: 111,980,283	Y20H	probably benign	Het
Stk31	A	G	6: 49,409,207	D160G	probably damaging	Het
Sycp2	C	T	2: 178,374,366	E768K	possibly damaging	Het
Tango6	T	C	8: 106,688,895	V116A	probably benign	Het
Ttn	C	T	2: 76,867,230		probably benign	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Xylb	T	C	9: 119,383,377	I427T	probably damaging	Het
Zc3h7a	T	G	16: 11,139,075	D890A	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
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
R8737:C87977	UTSW	4	144208622	missense	probably damaging	1.00
Z1176:C87977	UTSW	4	144207461	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CATCCATTCACCAGCTCAGAGGAAG -3'
(R):5'- GCCTGCCCTAAGCCAATTATCTCAC -3'

Sequencing Primer
(F):5'- TAGGTGATTGACATTTTCATGCTCC -3'
(R):5'- CACCTCAGAGAGGTCAGTTTCTATG -3'

Posted On

2014-01-05