Mutagenetix > Incidental Mutations

Incidental Mutation 'R1160:2810403A07Rik'

100293

Institutional Source

Beutler Lab

Gene Symbol

2810403A07Rik

Ensembl Gene

ENSMUSG00000028060

Gene Name

RIKEN cDNA 2810403A07 gene

Synonyms

MMRRC Submission

039233-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R1160 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88685803-88712924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 88708862 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 452 (P452Q)

Ref Sequence

ENSEMBL: ENSMUSP00000142353 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029696] [ENSMUST00000198042] [ENSMUST00000198078] [ENSMUST00000199684]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029696
AA Change: P452Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029696
Gene: ENSMUSG00000028060
AA Change: P452Q

Domain	Start	End	E-Value	Type
low complexity region	21	66	N/A	INTRINSIC
Blast:KH	103	185	2e-28	BLAST
PDB:2YQR\|A	229	340	6e-76	PDB
Blast:KH	233	319	1e-36	BLAST
SCOP:d1k1ga_	233	327	4e-16	SMART
low complexity region	344	384	N/A	INTRINSIC
low complexity region	425	436	N/A	INTRINSIC
low complexity region	442	458	N/A	INTRINSIC
low complexity region	499	510	N/A	INTRINSIC
low complexity region	566	579	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197300

Predicted Effect

probably damaging
Transcript: ENSMUST00000198042
AA Change: P452Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142773
Gene: ENSMUSG00000028060
AA Change: P452Q

Domain	Start	End	E-Value	Type
low complexity region	21	66	N/A	INTRINSIC
Blast:KH	103	185	7e-29	BLAST
PDB:2YQR\|A	229	340	2e-77	PDB
Blast:KH	233	319	2e-37	BLAST
SCOP:d1k1ga_	233	327	3e-16	SMART
low complexity region	344	384	N/A	INTRINSIC
low complexity region	425	436	N/A	INTRINSIC
low complexity region	442	458	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000198078

SMART Domains

Protein: ENSMUSP00000142760
Gene: ENSMUSG00000028060

Domain	Start	End	E-Value	Type
low complexity region	21	66	N/A	INTRINSIC
Blast:KH	103	185	5e-29	BLAST
PDB:2YQR\|A	229	340	1e-77	PDB
Blast:KH	233	319	3e-37	BLAST
SCOP:d1k1ga_	233	327	4e-17	SMART
low complexity region	410	421	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198721

Predicted Effect

probably damaging
Transcript: ENSMUST00000199684
AA Change: P452Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142353
Gene: ENSMUSG00000028060
AA Change: P452Q

Domain	Start	End	E-Value	Type
low complexity region	21	66	N/A	INTRINSIC
Blast:KH	103	185	7e-29	BLAST
PDB:2YQR\|A	229	340	2e-77	PDB
Blast:KH	233	319	2e-37	BLAST
SCOP:d1k1ga_	233	327	3e-16	SMART
low complexity region	344	384	N/A	INTRINSIC
low complexity region	425	436	N/A	INTRINSIC
low complexity region	442	458	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200622

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 92.7%
20x: 81.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	G	T	1: 89,843,154	K622N	probably damaging	Het
Ap3b2	A	T	7: 81,466,169		probably null	Het
Arl5b	T	C	2: 15,069,837	V43A	probably benign	Het
Astn1	T	C	1: 158,600,365	V702A	possibly damaging	Het
Bach1	T	C	16: 87,715,434	V15A	probably benign	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Ccar2	C	T	14: 70,139,769	V774M	probably benign	Het
Dcaf5	T	C	12: 80,340,215	D379G	possibly damaging	Het
Dcpp1	T	A	17: 23,881,431	I45K	possibly damaging	Het
Ddx17	T	A	15: 79,541,087	S128C	probably damaging	Het
Eml3	A	G	19: 8,933,250	N192S	probably benign	Het
Epha3	T	G	16: 63,773,068	D219A	probably damaging	Het
Fhod3	C	T	18: 24,985,236	A210V	probably damaging	Het
Klhl5	A	G	5: 65,141,340	N154S	probably benign	Het
Lrif1	A	G	3: 106,732,717	N373D	possibly damaging	Het
Map3k20	A	G	2: 72,441,520	N664S	probably benign	Het
Olfr625-ps1	A	G	7: 103,682,861	N38D	possibly damaging	Het
Parp14	G	A	16: 35,856,760	A946V	probably benign	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Pglyrp4	T	A	3: 90,728,831		probably null	Het
Pole	A	G	5: 110,295,253	E349G	possibly damaging	Het
Ptprj	A	G	2: 90,444,524	Y1165H	probably damaging	Het
Rasd1	T	A	11: 59,964,721	I29F	possibly damaging	Het
Scamp3	T	C	3: 89,181,198	F237S	probably damaging	Het
Sccpdh	T	G	1: 179,684,210	D82E	probably benign	Het
Slc19a3	A	C	1: 83,022,692	H201Q	possibly damaging	Het
Slc5a4a	G	A	10: 76,178,161	A401T	possibly damaging	Het
Snupn	T	G	9: 56,957,105	C29W	probably benign	Het
Sorbs2	A	G	8: 45,770,576	Y222C	probably damaging	Het
Sox17	A	T	1: 4,491,852	V310E	probably damaging	Het
Srgap1	T	A	10: 121,855,477	Y284F	probably benign	Het
Srpk1	C	A	17: 28,599,774	V363F	probably benign	Het
Syt13	T	A	2: 92,943,042		probably null	Het
Taf2	A	G	15: 55,071,397	V45A	probably benign	Het
Tal1	A	T	4: 115,068,616	D294V	probably damaging	Het
Tbl2	A	G	5: 135,159,392	T347A	probably benign	Het
Tet3	A	G	6: 83,404,452	S110P	probably benign	Het
Tmem132a	A	G	19: 10,858,574	V864A	probably damaging	Het
Trak1	T	C	9: 121,392,007	I80T	probably benign	Het
Trappc6b	G	A	12: 59,050,278	T86I	probably damaging	Het
Usf3	T	A	16: 44,218,547	I1130N	probably damaging	Het
Xirp2	T	C	2: 67,509,887	V824A	possibly damaging	Het
Zfp810	T	C	9: 22,278,532	Y360C	possibly damaging	Het
Zmiz1	T	A	14: 25,654,512	V685E	probably damaging	Het
Zp2	A	T	7: 120,136,045	D368E	probably damaging	Het

Other mutations in 2810403A07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0085:2810403A07Rik	UTSW	3	88711739	missense	probably damaging	0.99
R0271:2810403A07Rik	UTSW	3	88686329	splice site	probably benign
R2348:2810403A07Rik	UTSW	3	88708876	missense	probably benign	0.01
R3121:2810403A07Rik	UTSW	3	88689292	missense	probably damaging	1.00
R3546:2810403A07Rik	UTSW	3	88693136	splice site	probably benign
R3548:2810403A07Rik	UTSW	3	88693136	splice site	probably benign
R4688:2810403A07Rik	UTSW	3	88686517	missense	probably damaging	1.00
R5249:2810403A07Rik	UTSW	3	88696725	missense	probably damaging	1.00
R5393:2810403A07Rik	UTSW	3	88696606	missense	probably benign	0.08
R5558:2810403A07Rik	UTSW	3	88693096	missense	probably damaging	0.98
R5579:2810403A07Rik	UTSW	3	88700275	missense	probably benign
R5782:2810403A07Rik	UTSW	3	88711678	missense	probably damaging	0.96
R5809:2810403A07Rik	UTSW	3	88708885	missense	probably damaging	0.96
R6415:2810403A07Rik	UTSW	3	88699972	missense	probably benign	0.25
R6566:2810403A07Rik	UTSW	3	88711654	missense	probably damaging	0.99
R6765:2810403A07Rik	UTSW	3	88686429	missense	probably damaging	1.00
R6939:2810403A07Rik	UTSW	3	88686517	missense	probably damaging	1.00
R7248:2810403A07Rik	UTSW	3	88693579	missense	probably damaging	1.00
R7311:2810403A07Rik	UTSW	3	88711695	missense	probably damaging	0.96
R7852:2810403A07Rik	UTSW	3	88696736	missense	probably benign	0.06
R7935:2810403A07Rik	UTSW	3	88696736	missense	probably benign	0.06

Predicted Primers

Posted On

2014-01-15