Mutagenetix > Incidental Mutation

Incidental Mutation 'R0455:4921539E11Rik'

39946

Institutional Source

Beutler Lab

Gene Symbol

4921539E11Rik

Ensembl Gene

ENSMUSG00000028520

Gene Name

RIKEN cDNA 4921539E11 gene

Synonyms

MMRRC Submission

038655-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R0455 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103230445-103290863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103230983 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 342 (G342D)

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: G443D

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030245
Gene: ENSMUSG00000028520
AA Change: G443D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000097944

SMART Domains

Protein: ENSMUSP00000095557
Gene: ENSMUSG00000028520

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168664
AA Change: G342D

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131846
Gene: ENSMUSG00000028520
AA Change: G342D

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2b	C	T	9: 119,432,609	R399W	probably damaging	Het
AI464131	G	A	4: 41,499,538	R31*	probably null	Het
Atf6	A	G	1: 170,834,923	V256A	probably benign	Het
Atp2b4	A	T	1: 133,728,716	I732N	probably damaging	Het
C1qtnf9	A	C	14: 60,772,371	Q25H	probably damaging	Het
Ccdc6	T	A	10: 70,142,571		probably benign	Het
Cds2	T	C	2: 132,285,967		probably null	Het
Chdh	A	G	14: 30,034,646	Y343C	probably damaging	Het
Col5a2	T	C	1: 45,382,102		probably benign	Het
Cts3	G	A	13: 61,568,210		probably benign	Het
Cyfip1	T	A	7: 55,892,054	D362E	probably benign	Het
Dsg1b	T	A	18: 20,396,025	S273T	probably benign	Het
Dysf	A	T	6: 84,140,667	H1274L	probably benign	Het
Eva1c	T	C	16: 90,876,098	S187P	probably benign	Het
Fam126b	T	C	1: 58,534,479		probably benign	Het
Fam13b	G	A	18: 34,445,528		probably benign	Het
Fam172a	T	A	13: 77,834,713		probably benign	Het
Fbn2	C	T	18: 58,035,336	G2310S	probably damaging	Het
Fcna	T	C	2: 25,625,508	Y183C	probably damaging	Het
Fnta	T	C	8: 26,001,028	T263A	probably benign	Het
Gm94	T	C	18: 43,781,244	D83G	possibly damaging	Het
Gnal	C	T	18: 67,135,649		probably benign	Het
Grb7	T	G	11: 98,452,188	S244A	probably benign	Het
Grm3	T	C	5: 9,512,477	T458A	probably benign	Het
Hdac2	C	T	10: 36,991,836	R193C	probably damaging	Het
Ighmbp2	T	C	19: 3,265,072	R783G	probably benign	Het
Inpp5j	G	T	11: 3,503,122	L43I	possibly damaging	Het
Itga11	A	T	9: 62,696,961	T44S	probably damaging	Het
Itsn1	C	T	16: 91,868,148		probably benign	Het
Kdm6b	G	T	11: 69,406,996	C233*	probably null	Het
Lamb3	T	C	1: 193,343,392	L1130P	probably damaging	Het
Lrch3	T	C	16: 32,986,880	F508L	probably damaging	Het
Lrrd1	T	A	5: 3,866,425	V814E	probably benign	Het
Megf10	C	T	18: 57,252,982	P356S	probably benign	Het
Naip1	A	T	13: 100,423,219	D1092E	probably benign	Het
Nus1	T	A	10: 52,430,094	V42E	probably damaging	Het
Olfr435	A	C	6: 43,202,072	M143L	probably benign	Het
Olfr739	A	G	14: 50,424,902	I128V	possibly damaging	Het
Padi3	T	C	4: 140,795,713	N306S	probably damaging	Het
Pex13	T	C	11: 23,655,949	S94G	probably benign	Het
Ppm1h	G	T	10: 122,802,324	Q166H	probably benign	Het
Ptafr	A	T	4: 132,580,085	Y262F	probably benign	Het
Rabgap1	T	A	2: 37,487,120	D321E	probably damaging	Het
Samsn1	C	T	16: 75,945,225		noncoding transcript	Het
Scarb1	T	C	5: 125,289,681	N63D	probably damaging	Het
Serpinb7	T	C	1: 107,451,610	I249T	possibly damaging	Het
Srpr	A	G	9: 35,214,981	K490R	probably benign	Het
Sycn	A	G	7: 28,540,973	N22D	probably benign	Het
Tarbp1	C	T	8: 126,440,873	A1067T	probably benign	Het
Tex14	A	G	11: 87,514,305	D681G	possibly damaging	Het
Usp34	C	T	11: 23,446,741		probably benign	Het
Vmn2r107	T	C	17: 20,374,823		probably benign	Het
Vwde	A	T	6: 13,187,529	M653K	probably benign	Het
Wrap73	T	A	4: 154,148,743	S125T	possibly damaging	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
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
R0799:4921539E11Rik	UTSW	4	103242904	missense	possibly damaging	0.83
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	probably benign	0.03
R9643:4921539E11Rik	UTSW	4	103235469	missense	unknown
R9709:4921539E11Rik	UTSW	4	103235481	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGTTGATCTTGAACCGAGCACTTC -3'
(R):5'- TGTTCCTGACCAAAAGGTTTACCCC -3'

Sequencing Primer
(F):5'- AACCGAGCACTTCGGACTG -3'
(R):5'- GAACCAAGTGCTGTTTCTGAACC -3'

Posted On

2013-05-23