Mutagenetix > Incidental Mutation

Incidental Mutation 'R5670:C87977'

442562

Institutional Source

Beutler Lab

Gene Symbol

C87977

Ensembl Gene

ENSMUSG00000046262

Gene Name

expressed sequence C87977

Synonyms

MMRRC Submission

043313-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R5670 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144206775-144213318 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144209622 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 23 (S23P)

Ref Sequence

ENSEMBL: ENSMUSP00000119895 (fasta)

Gene Model

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

AlphaFold

A2A958

Predicted Effect

probably benign
Transcript: ENSMUST00000105753
AA Change: S21P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000105754
AA Change: S21P

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

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 benign
Transcript: ENSMUST00000105757
AA Change: S21P

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101383
Gene: ENSMUSG00000046262
AA Change: S21P

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
AA Change: S23P

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	T	C	5: 99,979,209		probably benign	Het
Ahsg	T	A	16: 22,898,163	N158K	probably benign	Het
Arhgef10	T	C	8: 14,954,774	M430T	probably benign	Het
Bmper	T	A	9: 23,473,463	M588K	probably damaging	Het
Btla	A	T	16: 45,250,419	D247V	probably damaging	Het
Cap2	T	A	13: 46,531,083		probably null	Het
Chd2	A	T	7: 73,441,717	I1592K	probably benign	Het
Col4a4	A	G	1: 82,485,579		probably null	Het
Copg1	C	T	6: 87,912,235	T853M	probably damaging	Het
Ddb2	C	T	2: 91,212,581	V353M	probably damaging	Het
Dip2b	A	G	15: 100,190,104	D973G	possibly damaging	Het
Dscam	G	A	16: 96,718,164	T791I	probably benign	Het
Dtd2	T	A	12: 51,999,860	L65F	probably damaging	Het
Fer1l6	C	T	15: 58,622,482	P1175S	probably benign	Het
Fzd6	A	T	15: 39,031,115	R225S	probably benign	Het
Glce	A	G	9: 62,060,511	S453P	probably damaging	Het
Gm38100	C	T	1: 175,921,613	T415M	probably damaging	Het
Gm4787	G	A	12: 81,378,031	T451I	probably benign	Het
Igkv8-18	C	T	6: 70,356,149	T25I	probably benign	Het
Ikzf2	A	G	1: 69,577,900	V96A	probably benign	Het
Ilkap	T	C	1: 91,391,141	T38A	probably benign	Het
Lpin3	A	G	2: 160,897,330	T353A	probably benign	Het
Mfsd8	A	T	3: 40,822,049	N389K	probably benign	Het
Mttp	A	T	3: 138,125,113	V65D	probably damaging	Het
Ndufaf4	A	T	4: 24,898,636	D64V	probably damaging	Het
Nfe2l2	T	C	2: 75,677,118	T213A	probably benign	Het
Nkain4	A	G	2: 180,943,202	L73P	probably damaging	Het
Nwd1	T	A	8: 72,693,117	S977T	probably damaging	Het
Olfr1271	T	C	2: 90,265,964	I155M	probably benign	Het
Olfr1389	T	G	11: 49,431,208	L244R	probably damaging	Het
Olfr173	G	A	16: 58,797,061	P262S	possibly damaging	Het
Olfr365	T	A	2: 37,201,994	V251D	probably benign	Het
Pdgfra	T	C	5: 75,173,495	S410P	probably benign	Het
Phldb1	T	C	9: 44,715,781	M456V	probably damaging	Het
Pi16	C	T	17: 29,326,896	T216I	probably damaging	Het
Plekha2	C	A	8: 25,059,238	A177S	probably benign	Het
Prss16	C	T	13: 22,003,051	V450I	possibly damaging	Het
Rab3gap2	C	T	1: 185,221,899	P56L	probably benign	Het
Rab3gap2	T	A	1: 185,277,205	L1086H	probably damaging	Het
Rgs21	A	G	1: 144,536,942	V48A	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rnf213	A	G	11: 119,434,686		probably null	Het
Slc4a2	G	T	5: 24,434,838	V506L	probably damaging	Het
Sptbn5	C	G	2: 120,085,567		probably benign	Het
Steap2	C	T	5: 5,673,681	V400I	probably benign	Het
Syne2	G	A	12: 75,950,959	G2236D	probably benign	Het
Tespa1	T	C	10: 130,354,755	S84P	probably damaging	Het
Tlx2	G	A	6: 83,069,826	A85V	possibly damaging	Het
Tm4sf1	A	T	3: 57,293,087	F65I	probably benign	Het
Tmprss13	A	G	9: 45,344,955	I456V	probably damaging	Het
Tpte	C	T	8: 22,327,748	S250F	probably damaging	Het
Trim24	T	C	6: 37,965,601	F946S	probably benign	Het
Vmn2r10	A	T	5: 108,999,044	Y459*	probably null	Het
Vps54	T	A	11: 21,264,864	I112N	probably damaging	Het
Vwa1	A	G	4: 155,774,465	L13P	probably damaging	Het
Zfp648	C	A	1: 154,204,217	Q41K	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
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
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'- ACGCAGGTATCATGGCCTTC -3'
(R):5'- AAGGGCAGACCAAGCAGTTC -3'

Sequencing Primer
(F):5'- GCAGGTATCATGGCCTTCAAGATC -3'
(R):5'- CAAGTCTCACTGAGGTCTAGGAC -3'

Posted On

2016-11-09