Mutagenetix > Incidental Mutation

Incidental Mutation 'R0799:4921539E11Rik'

76517

Institutional Source

Beutler Lab

Gene Symbol

4921539E11Rik

Ensembl Gene

ENSMUSG00000028520

Gene Name

RIKEN cDNA 4921539E11 gene

Synonyms

MMRRC Submission

038979-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R0799 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103230445-103290863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103242904 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 33 (T33I)

Ref Sequence

ENSEMBL: ENSMUSP00000131846 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030245] [ENSMUST00000097944] [ENSMUST00000168664]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030245
AA Change: T134I

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030245
Gene: ENSMUSG00000028520
AA Change: T134I

Domain	Start	End	E-Value	Type
Pfam:DUF4545	1	443	6.1e-206	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097944
AA Change: T134I

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095557
Gene: ENSMUSG00000028520
AA Change: T134I

Domain	Start	End	E-Value	Type
Pfam:DUF4545	1	270	7.3e-116	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168664
AA Change: T33I

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131846
Gene: ENSMUSG00000028520
AA Change: T33I

Domain	Start	End	E-Value	Type
Pfam:DUF4545	1	342	4.4e-183	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.9%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	A	G	6: 40,928,599	M41T	probably damaging	Het
4930555F03Rik	A	G	8: 49,495,439		noncoding transcript	Het
Abcf3	T	C	16: 20,559,334	L538P	probably damaging	Het
Adamts6	T	C	13: 104,314,271	S321P	probably damaging	Het
Adgra2	G	A	8: 27,112,495	R362H	probably damaging	Het
AI597479	T	G	1: 43,111,170	S147A	probably benign	Het
Ampd3	T	C	7: 110,800,697	F340L	probably damaging	Het
Arntl2	T	C	6: 146,823,253		probably benign	Het
Atad3a	A	G	4: 155,747,470	V449A	probably damaging	Het
Bpifa6	A	T	2: 153,992,272	D328V	probably benign	Het
Brca2	T	C	5: 150,560,193	S2903P	probably damaging	Het
Cct3	A	T	3: 88,299,345		probably null	Het
Cdk4	A	G	10: 127,064,994	T172A	probably damaging	Het
Chd5	A	G	4: 152,384,159	D1760G	probably damaging	Het
Chd7	A	G	4: 8,801,310		probably benign	Het
Crybb2	T	C	5: 113,062,171	I109V	probably benign	Het
Csmd3	A	G	15: 48,185,384		probably benign	Het
Dach1	G	T	14: 98,168,615	T232K	possibly damaging	Het
Dnlz	A	G	2: 26,351,473	V81A	possibly damaging	Het
Epb41l4b	A	G	4: 57,086,003	S191P	probably damaging	Het
Eps15l1	C	T	8: 72,346,085	D821N	probably damaging	Het
Fam186a	G	A	15: 99,942,012	P2117L	probably damaging	Het
Fam83d	T	A	2: 158,779,888	F173Y	probably damaging	Het
Gm9116	A	T	3: 93,910,465	R214S	probably benign	Het
Gm996	A	G	2: 25,578,562	S446P	possibly damaging	Het
Gtpbp1	A	G	15: 79,716,200	I445V	probably damaging	Het
H2-M2	G	A	17: 37,482,749	T122I	probably damaging	Het
Hgd	C	T	16: 37,628,609		probably benign	Het
Hip1r	A	G	5: 123,996,941	Y380C	probably benign	Het
Hspa8	G	A	9: 40,803,841	G389R	probably damaging	Het
Htt	C	A	5: 34,817,753	D622E	probably benign	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Kdm4a	A	G	4: 118,146,992		probably null	Het
Map3k9	G	A	12: 81,722,269	P1025S	probably benign	Het
Olfr911-ps1	G	A	9: 38,524,141	M136I	probably benign	Het
Pabpc1l	C	A	2: 164,031,214	H135N	probably benign	Het
Pacsin2	A	T	15: 83,379,797	S346R	probably benign	Het
Pcdhb20	A	G	18: 37,505,885	Y488C	probably damaging	Het
Pkdcc	G	A	17: 83,223,918	C452Y	probably damaging	Het
Poglut1	T	C	16: 38,534,721		probably null	Het
Pxk	T	C	14: 8,148,123	F409L	probably benign	Het
Pygm	G	A	19: 6,386,018		probably benign	Het
Rabep2	T	C	7: 126,438,724	S223P	probably damaging	Het
Rpp40	C	T	13: 35,902,051	R109H	probably benign	Het
Sbf2	T	C	7: 110,341,355	Y1266C	possibly damaging	Het
Slc5a4a	T	C	10: 76,176,534	V346A	probably benign	Het
Smpd3	G	T	8: 106,264,789	H377Q	possibly damaging	Het
Sppl2a	C	A	2: 126,920,307		probably benign	Het
Tas2r134	T	C	2: 51,628,373	I288T	probably benign	Het
Trim35	T	A	14: 66,309,201	H472Q	probably damaging	Het
Trpm5	C	A	7: 143,078,351	R907L	probably damaging	Het
Ube2e2	G	T	14: 18,630,393	S56*	probably null	Het
Vmn2r88	A	C	14: 51,414,502	R432S	possibly damaging	Het
Wdr24	A	G	17: 25,826,128	Y279C	probably damaging	Het
Wdr90	A	G	17: 25,860,130	V246A	probably benign	Het
Xrn2	T	A	2: 147,029,898	N385K	probably benign	Het
Zfp28	T	A	7: 6,384,183	S73T	possibly damaging	Het
Zfp345	T	C	2: 150,472,351	E422G	probably benign	Het
Zhx2	A	G	15: 57,821,313	E26G	probably benign	Het

Other mutations in 4921539E11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:4921539E11Rik	APN	4	103235786	missense	possibly damaging	0.95
IGL00864:4921539E11Rik	APN	4	103235698	missense	probably damaging	1.00
IGL01951:4921539E11Rik	APN	4	103235668	missense	probably damaging	1.00
IGL02477:4921539E11Rik	APN	4	103270746	missense	probably benign	0.04
IGL02606:4921539E11Rik	APN	4	103242781	missense	probably benign	0.01
IGL03210:4921539E11Rik	APN	4	103284438	missense	probably benign	0.01
BB004:4921539E11Rik	UTSW	4	103266342	missense	probably benign	0.02
BB014:4921539E11Rik	UTSW	4	103266342	missense	probably benign	0.02
R0441:4921539E11Rik	UTSW	4	103235492	intron	probably benign
R0455:4921539E11Rik	UTSW	4	103230983	missense	possibly damaging	0.69
R0504:4921539E11Rik	UTSW	4	103270860	splice site	probably benign
R0636:4921539E11Rik	UTSW	4	103231217	missense	probably damaging	1.00
R0766:4921539E11Rik	UTSW	4	103270797	missense	probably damaging	0.99
R1312:4921539E11Rik	UTSW	4	103270797	missense	probably damaging	0.99
R1713:4921539E11Rik	UTSW	4	103270767	missense	possibly damaging	0.92
R1783:4921539E11Rik	UTSW	4	103231089	missense	probably damaging	0.99
R1978:4921539E11Rik	UTSW	4	103270764	missense	possibly damaging	0.49
R3735:4921539E11Rik	UTSW	4	103266406	missense	probably damaging	1.00
R4821:4921539E11Rik	UTSW	4	103235674	missense	probably damaging	1.00
R5274:4921539E11Rik	UTSW	4	103235659	missense	probably benign	0.22
R5275:4921539E11Rik	UTSW	4	103235659	missense	probably benign	0.22
R5431:4921539E11Rik	UTSW	4	103270848	missense	probably benign	0.00
R5449:4921539E11Rik	UTSW	4	103266382	missense	probably benign
R6049:4921539E11Rik	UTSW	4	103231323	missense	probably benign	0.05
R6277:4921539E11Rik	UTSW	4	103231471	nonsense	probably null
R6518:4921539E11Rik	UTSW	4	103266411	missense	probably damaging	1.00
R6602:4921539E11Rik	UTSW	4	103255572	missense	probably benign	0.36
R6634:4921539E11Rik	UTSW	4	103236930	critical splice donor site	probably null
R6992:4921539E11Rik	UTSW	4	103242793	missense	possibly damaging	0.57
R7575:4921539E11Rik	UTSW	4	103230995	missense	probably damaging	1.00
R7927:4921539E11Rik	UTSW	4	103266342	missense	probably benign	0.02
R8130:4921539E11Rik	UTSW	4	103235698	missense	probably damaging	1.00
R8461:4921539E11Rik	UTSW	4	103255515	missense	probably benign	0.01
R8714:4921539E11Rik	UTSW	4	103242896	missense	probably benign	0.10
R8798:4921539E11Rik	UTSW	4	103266377	start gained	probably benign
R9458:4921539E11Rik	UTSW	4	103284411	missense	possibly damaging	0.81
R9462:4921539E11Rik	UTSW	4	103235767	missense	probably benign	0.08
R9598:4921539E11Rik	UTSW	4	103231407	missense	not run

Predicted Primers

PCR Primer
(F):5'- TGTGTACCTGTAAATGGAGGAGAGACG -3'
(R):5'- AATGATAACACTAGCCTAAGGGGTGGAT -3'

Sequencing Primer
(F):5'- GACGTTTTCCTTCTTACTAGCATTGG -3'
(R):5'- gtcctaagttcaagtcccacc -3'

Posted On

2013-10-16