Mutagenetix > Incidental Mutation

Incidental Mutation 'R3276:Gm11492'

475833

Institutional Source

Beutler Lab

Gene Symbol

Gm11492

Ensembl Gene

ENSMUSG00000090107

Gene Name

predicted gene 11492

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R3276 (G1)

Quality Score

225

Status

Not 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: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 86,506,866 (GRCm38)	R1269H	probably damaging	Het
Ace	A	G	11: 105,976,702 (GRCm38)	E164G	probably null	Het
Als2	A	T	1: 59,170,008 (GRCm38)	V1464E	possibly damaging	Het
Atox1	A	G	11: 55,450,553 (GRCm38)	L52P	possibly damaging	Het
Btnl10	A	G	11: 58,922,390 (GRCm38)	K282E	probably benign	Het
Cdkn3	T	C	14: 46,771,477 (GRCm38)		probably benign	Het
Col16a1	A	G	4: 130,057,999 (GRCm38)	K72E	probably damaging	Het
Col6a5	G	A	9: 105,911,107 (GRCm38)	R1565*	probably null	Het
Col6a6	T	C	9: 105,786,230 (GRCm38)	H36R	probably benign	Het
Cyp4b1	T	C	4: 115,625,850 (GRCm38)	N415D	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993 (GRCm38)	R767L	probably damaging	Het
Dhcr24	T	C	4: 106,561,239 (GRCm38)	F25L	probably benign	Het
Dhrs3	A	G	4: 144,923,940 (GRCm38)	T219A	probably benign	Het
Dhx58	A	G	11: 100,696,979 (GRCm38)	F584S	probably damaging	Het
Dmbt1	A	G	7: 131,088,071 (GRCm38)	T715A	probably benign	Het
Eogt	T	A	6: 97,131,394 (GRCm38)	I229F	probably benign	Het
Ern2	T	C	7: 122,180,964 (GRCm38)	T164A	possibly damaging	Het
Fam133b	A	T	5: 3,558,522 (GRCm38)	N84I	probably damaging	Het
Fbxl21	T	A	13: 56,537,122 (GRCm38)	Y346*	probably null	Het
Fcgbp	C	A	7: 28,091,661 (GRCm38)	H782Q	probably damaging	Het
Gm5592	A	G	7: 41,288,380 (GRCm38)	E362G	probably benign	Het
Golga3	T	C	5: 110,201,998 (GRCm38)		probably benign	Het
Gpatch2l	A	G	12: 86,244,315 (GRCm38)	T91A	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681 (GRCm38)		probably null	Het
Hsp90aa1	T	A	12: 110,695,680 (GRCm38)	M1L	possibly damaging	Het
Itgad	C	A	7: 128,190,981 (GRCm38)	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542 (GRCm38)	D409G	probably damaging	Het
Kcnt2	A	G	1: 140,609,639 (GRCm38)	N1119S	probably benign	Het
Klhl32	T	C	4: 24,682,063 (GRCm38)	I207V	probably benign	Het
Klk14	G	A	7: 43,692,077 (GRCm38)	C51Y	probably damaging	Het
Lhfpl5	T	C	17: 28,579,946 (GRCm38)	I143T	possibly damaging	Het
Lrrk1	T	C	7: 66,305,521 (GRCm38)	K431E	possibly damaging	Het
Mag	C	T	7: 30,901,648 (GRCm38)		probably null	Het
Maml3	A	T	3: 51,856,930 (GRCm38)	N204K	possibly damaging	Het
Mmut	A	G	17: 40,958,872 (GRCm38)		probably null	Het
Mrpl19	T	C	6: 81,964,066 (GRCm38)	S115G	probably damaging	Het
Mthfd1l	G	C	10: 4,148,025 (GRCm38)	G954A	probably damaging	Het
Myo19	A	G	11: 84,892,175 (GRCm38)	I172V	probably benign	Het
Naca	T	C	10: 128,040,661 (GRCm38)		probably benign	Het
Nfatc2	T	C	2: 168,506,994 (GRCm38)	N638D	possibly damaging	Het
Nsun6	A	G	2: 15,009,404 (GRCm38)		probably benign	Het
Or52r1c	C	A	7: 103,085,750 (GRCm38)	D72E	probably damaging	Het
Or8b49	T	A	9: 38,594,643 (GRCm38)	C141S	probably damaging	Het
Or9s27	A	G	1: 92,588,813 (GRCm38)	N161S	probably benign	Het
Padi6	A	G	4: 140,735,389 (GRCm38)	L307P	probably damaging	Het
Pafah1b1	G	A	11: 74,690,232 (GRCm38)	S57F	probably damaging	Het
Prcd	A	G	11: 116,659,811 (GRCm38)	E103G	possibly damaging	Het
Prkx	A	T	X: 77,771,275 (GRCm38)	F260I	probably damaging	Het
Rad54l2	A	G	9: 106,753,943 (GRCm38)		probably null	Het
Ranbp1	T	C	16: 18,247,429 (GRCm38)		probably benign	Het
Rb1cc1	T	A	1: 6,249,366 (GRCm38)	M1003K	probably benign	Het
Scap	A	T	9: 110,374,025 (GRCm38)	M256L	probably benign	Het
Sema4c	C	T	1: 36,549,879 (GRCm38)	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601 (GRCm38)	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598 (GRCm38)	N75D	possibly damaging	Het
Tmem120b	T	A	5: 123,114,104 (GRCm38)	I146N	probably damaging	Het
Ttc23l	A	G	15: 10,547,232 (GRCm38)	F99L	possibly damaging	Het
Ube3a	T	A	7: 59,276,519 (GRCm38)	C348*	probably null	Het
Ubr4	T	A	4: 139,421,855 (GRCm38)	D1777E	probably benign	Het
Unc79	C	A	12: 103,113,217 (GRCm38)	D1880E	probably damaging	Het
Usp36	C	T	11: 118,276,759 (GRCm38)		probably null	Het
Zswim9	T	C	7: 13,277,270 (GRCm38)	T51A	possibly damaging	Het

Other mutations in Gm11492

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01803:Gm11492	APN	11	87,568,249 (GRCm38)	missense	probably benign	0.07
IGL01993:Gm11492	APN	11	87,567,729 (GRCm38)	missense	possibly damaging	0.85
IGL02566:Gm11492	APN	11	87,567,642 (GRCm38)	missense	probably benign	0.00
IGL03213:Gm11492	APN	11	87,567,358 (GRCm38)	splice site	probably null
IGL03388:Gm11492	APN	11	87,568,216 (GRCm38)	nonsense	probably null
R0050:Gm11492	UTSW	11	87,567,346 (GRCm38)	missense	probably damaging	1.00
R1479:Gm11492	UTSW	11	87,567,418 (GRCm38)	missense	probably damaging	1.00
R1851:Gm11492	UTSW	11	87,568,915 (GRCm38)	missense	probably damaging	1.00
R1862:Gm11492	UTSW	11	87,567,235 (GRCm38)	missense	possibly damaging	0.48
R1913:Gm11492	UTSW	11	87,567,012 (GRCm38)	missense	probably benign
R3149:Gm11492	UTSW	11	87,567,244 (GRCm38)	missense	possibly damaging	0.46
R3176:Gm11492	UTSW	11	87,567,244 (GRCm38)	missense	possibly damaging	0.46
R4021:Gm11492	UTSW	11	87,567,280 (GRCm38)	missense	probably damaging	1.00
R4117:Gm11492	UTSW	11	87,568,282 (GRCm38)	missense	probably damaging	1.00
R4332:Gm11492	UTSW	11	87,567,904 (GRCm38)	missense	possibly damaging	0.95
R4515:Gm11492	UTSW	11	87,568,057 (GRCm38)	missense	probably benign
R4663:Gm11492	UTSW	11	87,567,603 (GRCm38)	missense	probably damaging	0.98
R4952:Gm11492	UTSW	11	87,567,772 (GRCm38)	missense	probably benign	0.00
R5015:Gm11492	UTSW	11	87,567,217 (GRCm38)	missense	possibly damaging	0.95
R5176:Gm11492	UTSW	11	87,567,532 (GRCm38)	missense	probably benign	0.02
R5711:Gm11492	UTSW	11	87,567,897 (GRCm38)	missense	probably benign	0.07
R6305:Gm11492	UTSW	11	87,567,319 (GRCm38)	missense	probably benign	0.00
R9289:Gm11492	UTSW	11	87,568,966 (GRCm38)	nonsense	probably null
T0970:Gm11492	UTSW	11	87,567,732 (GRCm38)	missense	probably damaging	0.98
Z1177:Gm11492	UTSW	11	87,567,922 (GRCm38)	missense	probably benign

Predicted Primers

Posted On

2017-05-11