Mutagenetix > Incidental Mutations

Incidental Mutation 'R1827:C87977'

206891

Institutional Source

Beutler Lab

Gene Symbol

C87977

Ensembl Gene

ENSMUSG00000046262

Gene Name

expressed sequence C87977

Synonyms

MMRRC Submission

039854-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R1827 (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 144209610 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 27 (P27S)

Ref Sequence

ENSEMBL: ENSMUSP00000119895 (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: P25S

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105754
AA Change: P25S

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; 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

possibly damaging
Transcript: ENSMUST00000105757
AA Change: P25S

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101383
Gene: ENSMUSG00000046262
AA Change: P25S

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 damaging
Transcript: ENSMUST00000147855
AA Change: P27S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	G	C	7: 131,441,275	R355T	probably damaging	Het
Ackr2	C	T	9: 121,909,515	R319C	probably benign	Het
Acot4	G	A	12: 84,041,938	A187T	probably damaging	Het
Adgrb2	A	C	4: 130,012,557	Q926P	probably damaging	Het
Adgrb3	T	C	1: 25,532,577	T420A	probably damaging	Het
Adra1b	A	T	11: 43,835,649	V147E	probably damaging	Het
Bco1	A	G	8: 117,105,759	Y98C	probably damaging	Het
Car5a	C	T	8: 121,923,808	V166M	probably benign	Het
Cdh5	T	C	8: 104,112,909	L4P	possibly damaging	Het
Clec12a	A	G	6: 129,353,799	T115A	probably damaging	Het
Cmya5	G	A	13: 93,074,448	T3279I	possibly damaging	Het
Col4a4	C	T	1: 82,539,988	G105D	unknown	Het
Cyp2d34	A	T	15: 82,616,094	H481Q	probably benign	Het
Dhx15	A	T	5: 52,170,080	C307*	probably null	Het
Dnah9	A	G	11: 65,850,061	Y4100H	probably damaging	Het
Dock10	T	C	1: 80,530,292	N1647S	probably benign	Het
Duox1	T	A	2: 122,347,380	Y1548*	probably null	Het
Esyt1	T	C	10: 128,516,369	E763G	probably benign	Het
Fbxo18	G	T	2: 11,763,888	D332E	possibly damaging	Het
Fndc8	G	A	11: 82,899,529	V275M	probably damaging	Het
Focad	T	G	4: 88,229,383	Y420D	probably benign	Het
Gml	A	T	15: 74,816,431	H62Q	probably benign	Het
Gpr158	A	T	2: 21,827,318	L1076F	probably benign	Het
Gpr161	A	G	1: 165,306,567	T133A	possibly damaging	Het
Gpr83	G	T	9: 14,868,333	C269F	possibly damaging	Het
Gsg1l	A	T	7: 125,910,197	I256K	possibly damaging	Het
Hao1	T	A	2: 134,530,664	R141S	probably benign	Het
Hnf1a	G	A	5: 114,960,195	A116V	probably damaging	Het
Hrh4	A	T	18: 13,022,204	T267S	probably damaging	Het
Igfals	A	T	17: 24,880,304	N123I	probably benign	Het
Iglon5	T	A	7: 43,479,121	T91S	probably benign	Het
Impg2	A	T	16: 56,267,220	N1134I	possibly damaging	Het
Incenp	A	G	19: 9,872,729	V860A	possibly damaging	Het
Irf5	A	T	6: 29,536,673	H461L	possibly damaging	Het
Itpr2	A	G	6: 146,328,332	L1255P	probably damaging	Het
Kank2	A	G	9: 21,795,465	S86P	probably damaging	Het
Kcnma1	C	A	14: 23,330,929	D903Y	probably damaging	Het
Kcnn3	A	T	3: 89,520,994	M176L	possibly damaging	Het
Mccc1	A	T	3: 35,985,001	I281N	probably damaging	Het
Mms19	G	A	19: 41,953,677	A584V	probably benign	Het
Mon2	A	T	10: 123,046,311	D184E	probably damaging	Het
Mrpl1	T	C	5: 96,226,343	V159A	possibly damaging	Het
Myo18a	C	T	11: 77,818,771	T190I	probably benign	Het
Myo7a	A	T	7: 98,076,731	M1038K	probably damaging	Het
Myrfl	T	A	10: 116,832,947	I304F	probably damaging	Het
Neo1	G	A	9: 58,917,031	R705*	probably null	Het
Nfat5	T	C	8: 107,367,334	S736P	probably benign	Het
Nlrp4c	C	T	7: 6,065,766	P222L	probably damaging	Het
Nmt1	T	A	11: 103,064,838	W481R	probably damaging	Het
Ntrk3	T	A	7: 78,247,301	I663L	probably damaging	Het
Nup210l	A	T	3: 90,154,557	E681V	probably damaging	Het
Nxpe2	T	C	9: 48,326,614	T114A	probably damaging	Het
Olfr1202	A	T	2: 88,818,058	I296F	probably benign	Het
Olfr504	A	T	7: 108,565,075	V240D	probably benign	Het
Olfr543	A	G	7: 102,477,513	L119P	probably damaging	Het
Pald1	ATGCTGCTGCTGCTGC	ATGCTGCTGCTGC	10: 61,355,922		probably benign	Het
Ppm1e	T	C	11: 87,231,695	T479A	probably damaging	Het
Ppp1r7	A	G	1: 93,360,796	E298G	probably benign	Het
Prkaca	T	C	8: 83,990,987		probably null	Het
Prss36	A	G	7: 127,933,492	V718A	probably damaging	Het
Pxk	C	T	14: 8,151,507	R441*	probably null	Het
Rnf182	G	A	13: 43,668,534	W187*	probably null	Het
Rrp12	G	C	19: 41,880,481	D519E	possibly damaging	Het
Rufy4	T	C	1: 74,134,120	L415P	probably damaging	Het
Ryk	T	A	9: 102,888,507	D335E	probably benign	Het
S100a11	A	T	3: 93,526,121	I91F	probably benign	Het
Scin	T	C	12: 40,068,923	R625G	possibly damaging	Het
Simc1	T	A	13: 54,524,639	C267S	probably benign	Het
Skiv2l2	C	A	13: 112,913,099		probably null	Het
Slc28a1	T	C	7: 81,138,202	V279A	possibly damaging	Het
Slc30a8	T	A	15: 52,331,557		probably null	Het
Slco6d1	A	G	1: 98,421,216	D4G	probably damaging	Het
Tmem127	G	A	2: 127,256,174		probably null	Het
Trpm1	G	A	7: 64,235,007	R812H	probably damaging	Het
Tsga10	T	A	1: 37,835,580	I75F	probably damaging	Het
Tyms	C	T	5: 30,062,016		probably null	Het
Ubr4	A	G	4: 139,425,697		probably null	Het
Unc45a	A	G	7: 80,331,740	V438A	possibly damaging	Het
Usf2	T	C	7: 30,955,340	D110G	probably damaging	Het
Vit	T	C	17: 78,546,446		probably null	Het
Vmn2r104	A	T	17: 20,042,235	M211K	probably damaging	Het
Vmn2r11	T	C	5: 109,052,072	H505R	probably benign	Het
Vmn2r77	G	A	7: 86,801,613	A236T	probably damaging	Het
Xpo1	T	C	11: 23,285,155	M608T	probably benign	Het
Zfp112	T	C	7: 24,124,960	F116L	probably damaging	Het
Zfp84	A	G	7: 29,777,343	T487A	possibly damaging	Het
Zfpl1	A	C	19: 6,081,871	L241R	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
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'- GCATAGCCTTCAAAGTCTCCAG -3'
(R):5'- GGGTGATCAAATTGGTAAACTGAGTTC -3'

Sequencing Primer
(F):5'- TCTGCTTCCCTAAAGAAAGGTATGGG -3'
(R):5'- ACTGAGTTCTCTATCCTAATCGGTAG -3'

Posted On

2014-06-23