Mutagenetix > Incidental Mutations

Incidental Mutation 'R4063:C87977'

315951

Institutional Source

Beutler Lab

Gene Symbol

C87977

Ensembl Gene

ENSMUSG00000046262

Gene Name

expressed sequence C87977

Synonyms

MMRRC Submission

041619-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R4063 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144206775-144213318 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144208695 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 161 (K161E)

Ref Sequence

ENSEMBL: ENSMUSP00000119895 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105753
AA Change: K159E

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105754
AA Change: K159E

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

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: K159E

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101383
Gene: ENSMUSG00000046262
AA Change: K159E

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

possibly damaging
Transcript: ENSMUST00000147855
AA Change: K161E

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.1364

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	T	6: 146,953,108	F145L	probably benign	Het
3632451O06Rik	T	A	14: 49,773,987	M88L	probably benign	Het
Abcc9	T	C	6: 142,605,919	D1221G	possibly damaging	Het
Adamtsl4	T	C	3: 95,677,554	K935E	probably benign	Het
Ago4	A	T	4: 126,515,862		probably benign	Het
Arhgef28	T	C	13: 97,994,067	D421G	probably benign	Het
Atl2	T	C	17: 79,850,159	*413W	probably null	Het
B4galt7	C	A	13: 55,608,339		probably null	Het
C8g	A	T	2: 25,499,413	S147T	probably damaging	Het
Clstn3	A	T	6: 124,449,833	Y510N	possibly damaging	Het
Cnot2	A	G	10: 116,537,396	V34A	possibly damaging	Het
Cyb5d2	A	T	11: 72,795,780		probably benign	Het
Dnah5	T	C	15: 28,420,998	I3827T	probably damaging	Het
Dnah7a	G	T	1: 53,425,217	Q3672K	probably benign	Het
Dock1	A	T	7: 135,115,292	Y1219F	possibly damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fat1	A	T	8: 45,025,481	E2521D	probably benign	Het
Gm10719	G	T	9: 3,019,043	W96L	probably damaging	Het
Gm13083	A	G	4: 143,615,989	D222G	possibly damaging	Het
H2-M2	G	A	17: 37,481,508	H291Y	probably damaging	Het
Hmgcl	T	C	4: 135,958,724	Y167H	probably damaging	Het
Il22ra2	A	T	10: 19,626,652	D73V	possibly damaging	Het
Incenp	A	T	19: 9,883,778	M480K	unknown	Het
Kdm6a	A	G	X: 18,250,875	T266A	probably benign	Het
Lipf	A	G	19: 33,965,565	N91S	probably benign	Het
M1ap	A	T	6: 83,003,775	N214I	probably damaging	Het
Mast3	A	G	8: 70,781,194	V969A	probably damaging	Het
Mdga1	A	G	17: 29,838,031	C826R	probably damaging	Het
Mrvi1	G	T	7: 110,923,777	A359D	probably benign	Het
Msx1	C	A	5: 37,824,021	A105S	probably benign	Het
Olfr205	A	C	16: 59,328,880	S210A	probably benign	Het
Otogl	A	T	10: 107,790,649	D1451E	probably benign	Het
Otop2	G	A	11: 115,329,375	G347D	probably damaging	Het
Ppp1r13l	A	T	7: 19,370,053	H153L	probably benign	Het
Proz	A	G	8: 13,064,621	Y85C	probably damaging	Het
Prss50	A	G	9: 110,858,412	D141G	probably benign	Het
Rad54l2	T	A	9: 106,720,414	Q131L	probably benign	Het
Sdha	A	G	13: 74,323,958		probably benign	Het
Sema3d	T	A	5: 12,585,124	I719N	probably benign	Het
Slc18b1	A	T	10: 23,805,981	I148L	probably benign	Het
Tacc2	G	T	7: 130,729,122	D2086Y	probably damaging	Het
Tchh	T	C	3: 93,446,991	L1246P	unknown	Het
Tmprss11d	T	C	5: 86,309,318	I161V	probably benign	Het
Trpc3	T	C	3: 36,671,023	D268G	probably damaging	Het
Trpm8	G	A	1: 88,362,005	R895H	probably damaging	Het
Txndc2	A	G	17: 65,638,084	I366T	possibly damaging	Het
Ugt2a3	T	C	5: 87,336,866	I100V	probably benign	Het
Uhrf1bp1l	A	G	10: 89,816,055	N247S	probably benign	Het
Upp1	C	A	11: 9,131,709	P82Q	probably damaging	Het
Vim	A	G	2: 13,580,016		probably null	Het
Vmn2r12	A	T	5: 109,092,192	N168K	possibly damaging	Het
Zdhhc14	G	T	17: 5,752,708	C362F	probably damaging	Het
Zfp292	A	G	4: 34,810,863	V727A	probably damaging	Het
Zswim5	G	A	4: 116,877,980	G174D	unknown	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
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'- TTGAAGATTTCTATCACCGAGGC -3'
(R):5'- ACTGAGAATGTGACACTTGGGG -3'

Sequencing Primer
(F):5'- AAGATTTCTATCACCGAGGCTTTGG -3'
(R):5'- CACTTGGGGTTTAATTCTAGGCAAAG -3'

Posted On

2015-05-15