Mutagenetix > Incidental Mutations

Incidental Mutation 'R2092:AI987944'

231835

Institutional Source

Beutler Lab

Gene Symbol

AI987944

Ensembl Gene

ENSMUSG00000056383

Gene Name

expressed sequence AI987944

Synonyms

MMRRC Submission

040097-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R2092 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41372923-41393379 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41374617 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 313 (T313A)

Ref Sequence

ENSEMBL: ENSMUSP00000145621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071804] [ENSMUST00000205338] [ENSMUST00000206801]

AlphaFold

Q7TPX5

Predicted Effect

probably benign
Transcript: ENSMUST00000071804
AA Change: T316A

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000071708
Gene: ENSMUSG00000056383
AA Change: T316A

Domain	Start	End	E-Value	Type
KRAB	4	65	8.72e-15	SMART
ZnF_C2H2	74	96	1.24e2	SMART
ZnF_C2H2	130	152	2.43e-4	SMART
ZnF_C2H2	181	203	5.21e-4	SMART
ZnF_C2H2	209	231	3.95e-4	SMART
ZnF_C2H2	237	259	1.95e-3	SMART
ZnF_C2H2	265	287	4.87e-4	SMART
ZnF_C2H2	293	315	1.72e-4	SMART
ZnF_C2H2	321	343	8.47e-4	SMART
ZnF_C2H2	349	371	9.73e-4	SMART
ZnF_C2H2	377	399	3.69e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205338
AA Change: T313A

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000206801

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,674,937	C1321*	probably null	Het
Abca8b	A	G	11: 109,966,708	F673L	possibly damaging	Het
Adam19	T	G	11: 46,060,904		probably null	Het
Akap13	A	T	7: 75,610,570	I178F	probably benign	Het
Alb	G	GA	5: 90,463,983		probably null	Het
Bod1l	A	G	5: 41,831,517	S416P	probably damaging	Het
Casr	A	T	16: 36,510,043	Y310N	possibly damaging	Het
Cela3a	T	C	4: 137,404,426	N152S	probably benign	Het
Chrdl2	T	A	7: 100,020,977	C102*	probably null	Het
Col4a4	G	A	1: 82,498,946	S554L	unknown	Het
Col6a4	T	C	9: 106,060,331	K1392R	probably damaging	Het
Dab1	T	G	4: 104,678,777	Y128D	probably damaging	Het
Dars	A	T	1: 128,374,018	M293K	probably damaging	Het
Dlec1	T	C	9: 119,121,844	F493L	possibly damaging	Het
Dmbt1	G	T	7: 131,050,018	W330L	probably damaging	Het
Dnah11	A	T	12: 118,012,716	M831K	possibly damaging	Het
Dock7	T	C	4: 99,009,308	N715S	possibly damaging	Het
Edc4	T	A	8: 105,887,528	L12Q	probably damaging	Het
Edem2	T	C	2: 155,709,049	M333V	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,022,334		probably null	Het
Fto	C	A	8: 91,409,687	Y194*	probably null	Het
Gnptab	T	G	10: 88,440,305	Y1151*	probably null	Het
Grm1	A	G	10: 10,689,225	L1113P	probably benign	Het
Hnrnpa0	T	C	13: 58,127,800	K172E	probably damaging	Het
Ifitm1	A	G	7: 140,969,514	D70G	probably damaging	Het
Irx4	C	A	13: 73,265,486	T25K	probably damaging	Het
Kif22	C	T	7: 127,033,630	D195N	probably damaging	Het
Lrp2	C	T	2: 69,536,021	D245N	probably benign	Het
Lyz1	C	T	10: 117,288,599	R144Q	probably benign	Het
Macf1	T	A	4: 123,383,178	T6055S	probably damaging	Het
Mrgpra2b	C	T	7: 47,464,160	V249I	probably benign	Het
Myh9	G	A	15: 77,764,350	Q80*	probably null	Het
Myo6	G	T	9: 80,245,682	R199L	probably damaging	Het
Naglu	G	A	11: 101,076,720	V499I	possibly damaging	Het
Nfkbie	T	C	17: 45,558,539	F140S	probably benign	Het
Olfr1208	A	G	2: 88,897,267	F110S	probably damaging	Het
Olfr1454	T	A	19: 13,063,802	Y130*	probably null	Het
Olfr510	CAAATA	CA	7: 108,667,662		probably null	Het
Olfr598	G	A	7: 103,329,109	V208M	probably damaging	Het
Olfr67	A	T	7: 103,788,072	F68L	possibly damaging	Het
Olfr935	A	T	9: 38,995,189	L82Q	probably damaging	Het
Otop1	A	T	5: 38,299,766	I290F	probably damaging	Het
P2rx2	C	T	5: 110,341,141	D203N	probably damaging	Het
Pcdhb10	T	A	18: 37,414,187	I772N	probably benign	Het
Pnliprp1	A	G	19: 58,741,184	H423R	probably benign	Het
Ptk2	A	T	15: 73,236,191	Y56*	probably null	Het
Rapgef3	T	C	15: 97,760,723	D134G	probably damaging	Het
Scaf11	A	C	15: 96,415,827	S1358A	probably damaging	Het
Scn9a	T	C	2: 66,533,376	M844V	probably damaging	Het
Sh3tc1	T	C	5: 35,700,658	E1121G	probably damaging	Het
Slc25a15	T	C	8: 22,380,934	T176A	probably damaging	Het
Slc29a4	T	A	5: 142,718,855	I384N	probably damaging	Het
Slc40a1	A	T	1: 45,909,454	D555E	probably benign	Het
Smc5	T	C	19: 23,238,899	I446V	probably benign	Het
St6gal2	T	C	17: 55,510,266	Y477H	probably damaging	Het
Syngr1	A	T	15: 80,115,940	Q84L	possibly damaging	Het
Tedc1	T	C	12: 113,157,720	L187P	probably damaging	Het
Tg	A	G	15: 66,849,607	I322V	probably null	Het
Thap12	T	C	7: 98,716,449	V608A	possibly damaging	Het
Tmbim6	T	C	15: 99,402,068	S22P	probably damaging	Het
Ttc3	C	T	16: 94,442,832	P1232S	probably benign	Het
Upk3a	A	G	15: 85,018,085	T38A	probably damaging	Het
Utrn	A	T	10: 12,678,698	M1549K	probably benign	Het
Vmn1r176	C	T	7: 23,835,153	D192N	probably damaging	Het
Vmn1r198	A	G	13: 22,354,715	T35A	possibly damaging	Het
Xkr7	C	T	2: 153,054,063	S279L	probably damaging	Het
Zer1	G	A	2: 30,108,274	L342F	probably damaging	Het
Zfp641	G	T	15: 98,293,712	T31N	probably benign	Het
Zfp74	G	A	7: 29,953,924		probably benign	Het

Other mutations in AI987944

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03350:AI987944	APN	7	41393237	utr 5 prime	probably benign
G1citation:AI987944	UTSW	7	41374808	missense	probably damaging	1.00
R0744:AI987944	UTSW	7	41376859	missense	probably damaging	1.00
R1083:AI987944	UTSW	7	41375339	missense	probably benign	0.09
R1480:AI987944	UTSW	7	41374919	missense	probably benign	0.00
R1485:AI987944	UTSW	7	41374530	nonsense	probably null
R1491:AI987944	UTSW	7	41374348	nonsense	probably null
R1662:AI987944	UTSW	7	41374449	missense	possibly damaging	0.79
R1892:AI987944	UTSW	7	41374596	missense	probably damaging	1.00
R1906:AI987944	UTSW	7	41375126	missense	probably benign	0.02
R2037:AI987944	UTSW	7	41374391	missense	probably benign	0.04
R2202:AI987944	UTSW	7	41374526	missense	probably damaging	0.98
R5070:AI987944	UTSW	7	41375324	missense	probably benign	0.23
R5421:AI987944	UTSW	7	41374776	missense	probably benign	0.02
R5531:AI987944	UTSW	7	41374390	nonsense	probably null
R6822:AI987944	UTSW	7	41374808	missense	probably damaging	1.00
R7039:AI987944	UTSW	7	41374456	missense	probably benign
R8133:AI987944	UTSW	7	41375065	critical splice donor site	probably null
R8228:AI987944	UTSW	7	41376836	missense	probably damaging	1.00
R8342:AI987944	UTSW	7	41374886	missense	probably benign	0.01
R8826:AI987944	UTSW	7	41375203	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GGCATTAACAGATAACATCAAAGGT -3'
(R):5'- CACATACTGCAGAGACACCCTAT -3'

Sequencing Primer
(F):5'- GGGTTCCTCTGCAATATAAATTGGC -3'
(R):5'- CACCCTATGAATGTAATCAGTGTGG -3'

Posted On

2014-09-18