Mutagenetix > Incidental Mutation

Incidental Mutation 'R0446:1110051M20Rik'

39352

Institutional Source

Beutler Lab

Gene Symbol

1110051M20Rik

Ensembl Gene

ENSMUSG00000040591

Gene Name

RIKEN cDNA 1110051M20 gene

Synonyms

MMRRC Submission

038647-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R0446 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91275068-91444704 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 91304764 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 20 (T20I)

Ref Sequence

ENSEMBL: ENSMUSP00000092431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064652] [ENSMUST00000094835] [ENSMUST00000102594]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064652
AA Change: T117I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094835
AA Change: T20I

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092431
Gene: ENSMUSG00000040591
AA Change: T20I

Domain	Start	End	E-Value	Type
low complexity region	219	234	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102594
AA Change: T117I

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

SMART Domains

Protein: ENSMUSP00000099654
Gene: ENSMUSG00000040591
AA Change: T117I

Domain	Start	End	E-Value	Type
low complexity region	316	331	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145573

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	G	A	16: 38,828,702 (GRCm38)	T15I	probably benign	Het
4933434E20Rik	A	G	3: 90,064,459 (GRCm38)	T42A	probably benign	Het
Actr3b	T	A	5: 25,831,732 (GRCm38)	I181K	probably damaging	Het
Avl9	G	T	6: 56,736,483 (GRCm38)	R242L	probably benign	Het
B3galt4	T	C	17: 33,951,018 (GRCm38)	E82G	probably benign	Het
Bag1	G	A	4: 40,936,609 (GRCm38)	T349I	probably benign	Het
Brip1	A	T	11: 86,157,601 (GRCm38)	L305Q	probably damaging	Het
Cdipt	A	G	7: 126,978,264 (GRCm38)	T61A	probably damaging	Het
Cmya5	T	A	13: 93,093,656 (GRCm38)	R1641S	probably benign	Het
Cog7	T	C	7: 121,937,072 (GRCm38)	D515G	probably benign	Het
Cpsf4	T	A	5: 145,177,244 (GRCm38)	L171Q	probably damaging	Het
Cuzd1	A	T	7: 131,316,280 (GRCm38)		probably null	Het
Dapk1	T	A	13: 60,725,287 (GRCm38)		probably null	Het
Diaph1	A	G	18: 37,853,590 (GRCm38)	V1114A	possibly damaging	Het
Emx2	A	T	19: 59,463,916 (GRCm38)	K211*	probably null	Het
Fam160b1	G	A	19: 57,381,407 (GRCm38)	D461N	probably benign	Het
Fam170a	T	A	18: 50,280,632 (GRCm38)	C55S	possibly damaging	Het
Fbxw26	A	G	9: 109,743,720 (GRCm38)	S119P	probably benign	Het
Fryl	G	A	5: 73,097,417 (GRCm38)	T894M	possibly damaging	Het
Gad1-ps	C	A	10: 99,445,521 (GRCm38)		noncoding transcript	Het
Gm14124	A	G	2: 150,268,073 (GRCm38)	T228A	possibly damaging	Het
Gss	T	C	2: 155,567,745 (GRCm38)	E257G	probably benign	Het
Klhdc1	A	C	12: 69,283,308 (GRCm38)	S404R	probably benign	Het
Kmt2e	T	A	5: 23,497,534 (GRCm38)		probably null	Het
Krt20	G	A	11: 99,437,776 (GRCm38)	Q108*	probably null	Het
Lmnb1	T	A	18: 56,743,259 (GRCm38)	S480T	probably benign	Het
Lyst	T	A	13: 13,638,048 (GRCm38)	M1015K	probably benign	Het
Mdm1	T	G	10: 118,152,056 (GRCm38)	S290A	probably benign	Het
Mkln1	T	A	6: 31,449,504 (GRCm38)	F238I	probably damaging	Het
Mrgprb3	A	G	7: 48,643,236 (GRCm38)	V189A	probably benign	Het
Myrf	G	C	19: 10,218,162 (GRCm38)	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782 (GRCm38)	I582S	probably benign	Het
Neurod6	C	T	6: 55,679,629 (GRCm38)	E8K	probably benign	Het
Nlrp12	T	C	7: 3,234,029 (GRCm38)	I747V	probably benign	Het
Notch4	C	T	17: 34,565,363 (GRCm38)	R43W	possibly damaging	Het
Obscn	A	T	11: 58,995,412 (GRCm38)		probably benign	Het
Olfr1153	T	C	2: 87,896,855 (GRCm38)	Y219H	possibly damaging	Het
Olfr1346	T	C	7: 6,475,025 (GRCm38)	V305A	probably benign	Het
Olfr480	A	T	7: 108,066,725 (GRCm38)	Y24*	probably null	Het
Olfr522	A	T	7: 140,162,471 (GRCm38)	S160T	probably damaging	Het
Olfr920	G	T	9: 38,755,818 (GRCm38)	L43F	probably damaging	Het
Olfr958	A	T	9: 39,550,451 (GRCm38)	I140N	probably damaging	Het
Orc5	C	T	5: 22,546,457 (GRCm38)	V85I	probably benign	Het
Pccb	T	C	9: 100,982,797 (GRCm38)	D468G	probably damaging	Het
Pdzd2	A	T	15: 12,375,024 (GRCm38)	V1675E	probably benign	Het
Pkd1l3	C	G	8: 109,623,649 (GRCm38)	D375E	possibly damaging	Het
Pltp	A	T	2: 164,854,400 (GRCm38)	N97K	probably damaging	Het
Polr1a	T	C	6: 71,950,664 (GRCm38)		probably null	Het
Prss42	G	A	9: 110,799,273 (GRCm38)	V162I	possibly damaging	Het
Rbfox2	A	T	15: 77,099,255 (GRCm38)	Y269N	probably damaging	Het
Rftn2	A	T	1: 55,214,195 (GRCm38)	I83K	probably damaging	Het
S1pr4	A	T	10: 81,498,989 (GRCm38)	I217N	probably damaging	Het
Slc23a2	T	C	2: 132,078,433 (GRCm38)	K184R	probably benign	Het
Slc6a19	T	C	13: 73,691,695 (GRCm38)	N156S	probably benign	Het
Svep1	C	T	4: 58,088,280 (GRCm38)	G1723D	probably damaging	Het
Tbc1d32	T	A	10: 56,192,898 (GRCm38)	H358L	possibly damaging	Het
Tigit	G	T	16: 43,662,271 (GRCm38)	N33K	probably damaging	Het
Tmem25	T	C	9: 44,796,581 (GRCm38)	Y139C	probably damaging	Het
Trmt13	G	A	3: 116,582,626 (GRCm38)	T372M	probably damaging	Het
Ubr2	A	T	17: 46,983,298 (GRCm38)	M303K	probably damaging	Het
Usp34	A	G	11: 23,467,207 (GRCm38)	E2952G	probably damaging	Het
Zan	T	A	5: 137,391,658 (GRCm38)	I4851F	unknown	Het
Zfand4	C	T	6: 116,288,054 (GRCm38)	T160I	probably benign	Het

Other mutations in 1110051M20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02737:1110051M20Rik	APN	2	91,304,797 (GRCm38)	missense	probably damaging	1.00
R6768_1110051M20Rik_026	UTSW	2	91,421,958 (GRCm38)	missense	probably damaging	0.97
BB004:1110051M20Rik	UTSW	2	91,421,905 (GRCm38)	missense	probably damaging	1.00
BB014:1110051M20Rik	UTSW	2	91,421,905 (GRCm38)	missense	probably damaging	1.00
R0295:1110051M20Rik	UTSW	2	91,282,594 (GRCm38)	missense	probably damaging	1.00
R0437:1110051M20Rik	UTSW	2	91,421,953 (GRCm38)	missense	probably damaging	0.99
R0846:1110051M20Rik	UTSW	2	91,383,837 (GRCm38)	missense	probably damaging	0.98
R6768:1110051M20Rik	UTSW	2	91,421,958 (GRCm38)	missense	probably damaging	0.97
R6888:1110051M20Rik	UTSW	2	91,421,894 (GRCm38)	missense	probably damaging	1.00
R7751:1110051M20Rik	UTSW	2	91,383,773 (GRCm38)	missense	probably damaging	1.00
R7754:1110051M20Rik	UTSW	2	91,304,843 (GRCm38)	splice site	probably null
R7808:1110051M20Rik	UTSW	2	91,444,594 (GRCm38)	start gained	probably benign
R7927:1110051M20Rik	UTSW	2	91,421,905 (GRCm38)	missense	probably damaging	1.00
R8817:1110051M20Rik	UTSW	2	91,276,998 (GRCm38)	missense	probably benign	0.39
R9610:1110051M20Rik	UTSW	2	91,304,782 (GRCm38)	missense	probably damaging	1.00
R9611:1110051M20Rik	UTSW	2	91,304,782 (GRCm38)	missense	probably damaging	1.00
R9709:1110051M20Rik	UTSW	2	91,281,754 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCCTGGGAAAACCACATTGGATCAC -3'
(R):5'- ACACTGACTGGCCTTCAAACTGC -3'

Sequencing Primer
(F):5'- AACCACATTGGATCACTGGTTTC -3'
(R):5'- TGCAGCAGCATTGTAACAAG -3'

Posted On

2013-05-23