Mutagenetix > Incidental Mutation

Incidental Mutation 'R3176:Gm11492'

259147

Institutional Source

Beutler Lab

Gene Symbol

Gm11492

Ensembl Gene

ENSMUSG00000090107

Gene Name

predicted gene 11492

Synonyms

MMRRC Submission

040614-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R3176 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87566653-87569250 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87567244 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 148 (V148A)

Ref Sequence

ENSEMBL: ENSMUSP00000053087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060360] [ENSMUST00000122945]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060360
AA Change: V148A

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000053087
Gene: ENSMUSG00000090107
AA Change: V148A

Domain	Start	End	E-Value	Type
Pfam:DUF4655	13	369	1.7e-99	PFAM
Pfam:DUF4655	366	509	2.7e-68	PFAM
low complexity region	511	536	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122945

SMART Domains

Protein: ENSMUSP00000115682
Gene: ENSMUSG00000020486

Domain	Start	End	E-Value	Type
low complexity region	87	101	N/A	INTRINSIC
Pfam:DUF258	116	212	2.4e-7	PFAM
Pfam:Septin	134	213	9.1e-31	PFAM
Pfam:MMR_HSR1	139	213	5.5e-7	PFAM

Meta Mutation Damage Score

0.1069

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (28/28)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 86,506,866	R1269H	probably damaging	Het
Ace	A	G	11: 105,976,702	E164G	probably null	Het
Als2	A	T	1: 59,170,008	V1464E	possibly damaging	Het
Atox1	A	G	11: 55,450,553	L52P	possibly damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Cdkn3	T	C	14: 46,771,477		probably benign	Het
Ces2a	A	G	8: 104,739,378		probably benign	Het
Col16a1	A	G	4: 130,057,999	K72E	probably damaging	Het
Col6a5	G	A	9: 105,911,107	R1565*	probably null	Het
Col6a6	T	C	9: 105,786,230	H36R	probably benign	Het
Cyp4b1	T	C	4: 115,625,850	N415D	possibly damaging	Het
Dcp1a	A	G	14: 30,505,542		probably benign	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dhcr24	T	C	4: 106,561,239	F25L	probably benign	Het
Dhrs3	A	G	4: 144,923,940	T219A	probably benign	Het
Dhx58	A	G	11: 100,696,979	F584S	probably damaging	Het
Dmbt1	A	G	7: 131,088,071	T715A	probably benign	Het
Dtx3l	A	G	16: 35,932,173	S688P	probably benign	Het
Eogt	T	A	6: 97,131,394	I229F	probably benign	Het
Ern2	T	C	7: 122,180,964	T164A	possibly damaging	Het
Fam133b	A	T	5: 3,558,522	N84I	probably damaging	Het
Fbxl21	T	A	13: 56,537,122	Y346*	probably null	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hao2	T	C	3: 98,880,328		probably benign	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Itgad	C	A	7: 128,190,981	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kcnt2	A	G	1: 140,609,639	N1119S	probably benign	Het
Kif15	T	C	9: 122,987,840		probably benign	Het
Klhl32	T	C	4: 24,682,063	I207V	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lhfpl5	T	C	17: 28,579,946	I143T	possibly damaging	Het
Lrrk1	T	C	7: 66,305,521	K431E	possibly damaging	Het
Mag	C	T	7: 30,901,648		probably null	Het
Maml3	A	T	3: 51,856,930	N204K	possibly damaging	Het
Mrpl19	T	C	6: 81,964,066	S115G	probably damaging	Het
Mthfd1l	G	C	10: 4,148,025	G954A	probably damaging	Het
Mut	A	G	17: 40,958,872		probably null	Het
Myo19	A	G	11: 84,892,175	I172V	probably benign	Het
Naca	T	C	10: 128,040,661		probably benign	Het
Nbeal2	G	A	9: 110,636,887		probably benign	Het
Nfatc2	T	C	2: 168,506,994	N638D	possibly damaging	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr584	C	A	7: 103,085,750	D72E	probably damaging	Het
Olfr913	T	A	9: 38,594,643	C141S	probably damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Pafah1b1	G	A	11: 74,690,232	S57F	probably damaging	Het
Prcd	A	G	11: 116,659,811	E103G	possibly damaging	Het
Prkx	A	T	X: 77,771,275	F260I	probably damaging	Het
Rad54l2	A	G	9: 106,753,943		probably null	Het
Rb1cc1	T	A	1: 6,249,366	M1003K	probably benign	Het
Scap	A	T	9: 110,374,025	M256L	probably benign	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Sp110	A	C	1: 85,577,329	F434C	probably benign	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Tmem120b	T	A	5: 123,114,104	I146N	probably damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Ube3a	T	A	7: 59,276,519	C348*	probably null	Het
Ubr4	T	A	4: 139,421,855	D1777E	probably benign	Het
Unc79	C	A	12: 103,113,217	D1880E	probably damaging	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Zswim9	T	C	7: 13,277,270	T51A	possibly damaging	Het

Other mutations in Gm11492

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01803:Gm11492	APN	11	87568249	missense	probably benign	0.07
IGL01993:Gm11492	APN	11	87567729	missense	possibly damaging	0.85
IGL02566:Gm11492	APN	11	87567642	missense	probably benign	0.00
IGL03213:Gm11492	APN	11	87567358	splice site	probably null
IGL03388:Gm11492	APN	11	87568216	nonsense	probably null
R0050:Gm11492	UTSW	11	87567346	missense	probably damaging	1.00
R1479:Gm11492	UTSW	11	87567418	missense	probably damaging	1.00
R1851:Gm11492	UTSW	11	87568915	missense	probably damaging	1.00
R1862:Gm11492	UTSW	11	87567235	missense	possibly damaging	0.48
R1913:Gm11492	UTSW	11	87567012	missense	probably benign
R3149:Gm11492	UTSW	11	87567244	missense	possibly damaging	0.46
R3276:Gm11492	UTSW	11	87567244	missense	possibly damaging	0.46
R4021:Gm11492	UTSW	11	87567280	missense	probably damaging	1.00
R4117:Gm11492	UTSW	11	87568282	missense	probably damaging	1.00
R4332:Gm11492	UTSW	11	87567904	missense	possibly damaging	0.95
R4515:Gm11492	UTSW	11	87568057	missense	probably benign
R4663:Gm11492	UTSW	11	87567603	missense	probably damaging	0.98
R4952:Gm11492	UTSW	11	87567772	missense	probably benign	0.00
R5015:Gm11492	UTSW	11	87567217	missense	possibly damaging	0.95
R5176:Gm11492	UTSW	11	87567532	missense	probably benign	0.02
R5711:Gm11492	UTSW	11	87567897	missense	probably benign	0.07
R6305:Gm11492	UTSW	11	87567319	missense	probably benign	0.00
R9289:Gm11492	UTSW	11	87568966	nonsense	probably null
T0970:Gm11492	UTSW	11	87567732	missense	probably damaging	0.98
Z1177:Gm11492	UTSW	11	87567922	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGACTACCTACACCCTGTGTC -3'
(R):5'- TATGCTGAAATCCTACGGGGTAC -3'

Sequencing Primer
(F):5'- TGTGTCCCCACAGCCAG -3'
(R):5'- CTGAAATCCTACGGGGTACTTTAACC -3'

Posted On

2015-01-23