Mutagenetix > Incidental Mutations

Incidental Mutation 'R4130:C87977'

315502

Institutional Source

Beutler Lab

Gene Symbol

C87977

Ensembl Gene

ENSMUSG00000046262

Gene Name

expressed sequence C87977

Synonyms

MMRRC Submission

041636-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4130 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144206775-144213318 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144208809 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 121 (I121F)

Ref Sequence

ENSEMBL: ENSMUSP00000101383 (fasta)

Gene Model

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

AlphaFold

A2A958

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105753
AA Change: I121F

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105754
AA Change: I121F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000105755

SMART Domains

Protein: ENSMUSP00000101381
Gene: ENSMUSG00000046262

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105757
AA Change: I121F

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

SMART Domains

Protein: ENSMUSP00000101383
Gene: ENSMUSG00000046262
AA Change: I121F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132946

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146836
AA Change: I49F

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147855
AA Change: I123F

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (29/29)

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021A07Rik	T	C	10: 21,425,542		noncoding transcript	Het
A4gnt	A	G	9: 99,620,618	D277G	possibly damaging	Het
Adam12	C	T	7: 133,912,924	V345I	probably damaging	Het
Ankrd29	G	A	18: 12,254,700	A275V	possibly damaging	Het
Arpp21	T	A	9: 112,155,308		probably benign	Het
Bbx	T	C	16: 50,224,858	K447E	probably damaging	Het
Bcar1	A	G	8: 111,714,165	L399P	possibly damaging	Het
Cytl1	T	C	5: 37,735,641	S32P	probably damaging	Het
Eif4e1b	C	T	13: 54,787,317	T219M	probably benign	Het
F10	A	G	8: 13,055,584	D383G	possibly damaging	Het
Gm37267	T	G	1: 180,509,078		noncoding transcript	Het
Golga2	G	A	2: 32,288,166	R29H	probably benign	Het
Gpd1	A	T	15: 99,719,277		probably null	Het
Lrrk2	G	A	15: 91,755,794	R1514Q	probably benign	Het
Map1b	T	C	13: 99,431,680	E1511G	unknown	Het
Nup35	G	A	2: 80,656,099		probably benign	Het
Olfr702	C	T	7: 106,823,585	G314S	probably benign	Het
Pdzd9	A	T	7: 120,662,869	D123E	possibly damaging	Het
Rab3gap2	A	G	1: 185,204,297	D19G	possibly damaging	Het
Rnf213	T	C	11: 119,483,006	S4972P	probably damaging	Het
Skap1	A	G	11: 96,526,045	Y52C	probably damaging	Het
Sphkap	T	C	1: 83,277,898	N710S	probably damaging	Het
Tedc1	T	A	12: 113,163,208	D363E	probably benign	Het
Vmn2r44	T	A	7: 8,367,919	Q709H	probably damaging	Het
Wdr5	G	T	2: 27,520,429		probably benign	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
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'- CCACTGCAGCAAGTATGTGGTAG -3'
(R):5'- GGCTAAAGATGCCCTCTTGC -3'

Sequencing Primer
(F):5'- GCAGCAAGTATGTGGTAGATTCATC -3'
(R):5'- GATGCCCTCTTGCAAAGAATG -3'

Posted On

2015-05-14