Mutagenetix > Incidental Mutation

Incidental Mutation 'R4021:Gm11492'

313251

Institutional Source

Beutler Lab

Gene Symbol

Gm11492

Ensembl Gene

ENSMUSG00000090107

Gene Name

predicted gene 11492

Synonyms

MMRRC Submission

040955-MU

Accession Numbers

Essential gene?

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

Stock #

R4021 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87566653-87569250 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87567280 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 160 (E160G)

Ref Sequence

ENSEMBL: ENSMUSP00000053087 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000060360
AA Change: E160G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000053087
Gene: ENSMUSG00000090107
AA Change: E160G

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

0.1594

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.2%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	A	G	3: 6,620,088 (GRCm38)	L102P	probably benign	Het
Adcy4	C	T	14: 55,775,178 (GRCm38)		probably null	Het
Adgrf5	A	T	17: 43,430,714 (GRCm38)		probably benign	Het
Atp11a	A	G	8: 12,842,938 (GRCm38)	K643R	probably benign	Het
Cacna2d2	C	T	9: 107,514,058 (GRCm38)	T428M	probably damaging	Het
Cdh22	T	C	2: 165,143,673 (GRCm38)	D331G	possibly damaging	Het
Chmp3	T	C	6: 71,574,238 (GRCm38)		probably null	Het
Csnk2a1	C	T	2: 152,258,689 (GRCm38)	T127M	probably damaging	Het
Cyp2c55	T	A	19: 39,035,434 (GRCm38)		probably null	Het
Ddias	G	T	7: 92,861,478 (GRCm38)	D105E	possibly damaging	Het
Dnajb11	A	G	16: 22,869,446 (GRCm38)	D238G	probably damaging	Het
Dock7	T	C	4: 99,003,920 (GRCm38)		probably null	Het
Dock9	T	C	14: 121,626,912 (GRCm38)	K761E	possibly damaging	Het
Entpd7	G	A	19: 43,691,158 (GRCm38)	R50Q	probably benign	Het
Fam107b	G	A	2: 3,778,474 (GRCm38)	R238Q	probably damaging	Het
Fam186a	G	C	15: 99,941,799 (GRCm38)	T2188S	possibly damaging	Het
Farsa	A	G	8: 84,868,870 (GRCm38)	T465A	probably damaging	Het
Fibp	T	C	19: 5,460,734 (GRCm38)		probably null	Het
Flywch2	G	A	17: 23,777,039 (GRCm38)	T128I	possibly damaging	Het
Foxi2	A	T	7: 135,410,530 (GRCm38)	D49V	probably damaging	Het
Fstl5	A	G	3: 76,628,975 (GRCm38)	T31A	probably benign	Het
Gabbr2	G	A	4: 46,846,435 (GRCm38)	T158I	probably damaging	Het
Gbp4	T	A	5: 105,120,923 (GRCm38)	R455W	probably damaging	Het
Got2	T	G	8: 95,877,753 (GRCm38)	D69A	probably damaging	Het
Gpr63	T	C	4: 25,008,470 (GRCm38)	F398S	possibly damaging	Het
Gtf2h4	T	C	17: 35,670,664 (GRCm38)	M186V	probably benign	Het
Haus2	A	T	2: 120,615,930 (GRCm38)	Q111L	probably damaging	Het
Hexdc	T	C	11: 121,218,161 (GRCm38)		probably null	Het
Igf2r	T	A	17: 12,748,751 (GRCm38)	N27I	probably damaging	Het
Itgax	T	A	7: 128,133,139 (GRCm38)		probably null	Het
Krit1	T	A	5: 3,832,132 (GRCm38)	I596K	probably benign	Het
Lair1	A	G	7: 4,055,916 (GRCm38)		probably null	Het
Lilra6	G	T	7: 3,911,418 (GRCm38)	T276K	probably benign	Het
Mast4	G	A	13: 102,739,321 (GRCm38)	R1112*	probably null	Het
Mrgprb1	A	T	7: 48,447,123 (GRCm38)	I347N	possibly damaging	Het
Mroh2b	T	A	15: 4,925,100 (GRCm38)	C682S	possibly damaging	Het
Mtif3	T	A	5: 146,955,678 (GRCm38)	R249S	possibly damaging	Het
Mycbp2	C	T	14: 103,152,157 (GRCm38)	E3406K	probably damaging	Het
Myo15b	A	G	11: 115,873,505 (GRCm38)	H1315R	probably benign	Het
Nlrp2	A	G	7: 5,325,012 (GRCm38)	F681L	probably benign	Het
Olfr1157	T	A	2: 87,962,722 (GRCm38)	T57S	possibly damaging	Het
Olfr703	T	A	7: 106,845,019 (GRCm38)	M136K	probably damaging	Het
Pear1	T	C	3: 87,756,222 (GRCm38)	N390D	possibly damaging	Het
Ranbp17	G	A	11: 33,479,189 (GRCm38)	A352V	probably benign	Het
Rnf17	C	T	14: 56,460,001 (GRCm38)	H451Y	probably damaging	Het
Sag	A	T	1: 87,821,305 (GRCm38)		probably null	Het
Slc22a2	T	C	17: 12,584,489 (GRCm38)	L70P	probably damaging	Het
Slc32a1	C	T	2: 158,611,232 (GRCm38)		probably benign	Het
Spag17	A	T	3: 100,049,230 (GRCm38)	I881F	probably benign	Het
Taar7a	G	T	10: 23,993,386 (GRCm38)	N32K	probably benign	Het
Tbck	C	A	3: 132,727,134 (GRCm38)	T435K	probably damaging	Het
Tril	T	G	6: 53,819,019 (GRCm38)	D406A	probably damaging	Het
Tshz2	G	A	2: 169,885,862 (GRCm38)	D324N	probably damaging	Het
Vps13d	A	G	4: 145,075,061 (GRCm38)	V2349A	possibly damaging	Het
Wdr6	A	G	9: 108,575,206 (GRCm38)	W493R	probably damaging	Het
Wdr72	G	A	9: 74,151,593 (GRCm38)	V323I	probably benign	Het
Zfp488	T	A	14: 33,971,153 (GRCm38)	M18L	probably benign	Het
Zic4	A	G	9: 91,379,036 (GRCm38)	T108A	probably benign	Het
Znrf3	T	C	11: 5,281,278 (GRCm38)	D745G	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
R3276:Gm11492	UTSW	11	87,567,244 (GRCm38)	missense	possibly damaging	0.46
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

PCR Primer
(F):5'- ACTTCACGGGGAACTGAGAC -3'
(R):5'- ATCTGACCTCAGCAGTAGTCCTTC -3'

Sequencing Primer
(F):5'- CCCGAACAAGAATAGAGGTGCC -3'
(R):5'- CTCAGCAGTAGTCCTTCGGGTG -3'

Posted On

2015-04-30