Mutagenetix > Incidental Mutations

Incidental Mutation 'R6765:2810403A07Rik'

531850

Institutional Source

Beutler Lab

Gene Symbol

2810403A07Rik

Ensembl Gene

ENSMUSG00000028060

Gene Name

RIKEN cDNA 2810403A07 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

R6765 (G1)

Quality Score

138.008

Status

Validated

Chromosome

Chromosomal Location

88685803-88712924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 88686429 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 42 (G42W)

Ref Sequence

ENSEMBL: ENSMUSP00000142760 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000029696
AA Change: G42W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029696
Gene: ENSMUSG00000028060
AA Change: G42W

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

probably damaging
Transcript: ENSMUST00000198042
AA Change: G42W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142773
Gene: ENSMUSG00000028060
AA Change: G42W

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

probably damaging
Transcript: ENSMUST00000198078
AA Change: G42W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142760
Gene: ENSMUSG00000028060
AA Change: G42W

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

probably damaging
Transcript: ENSMUST00000199684
AA Change: G42W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142353
Gene: ENSMUSG00000028060
AA Change: G42W

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	A	G	18: 12,176,146	N92D	possibly damaging	Het
Adamtsl3	C	A	7: 82,567,024	D878E	possibly damaging	Het
Adipor2	A	C	6: 119,357,242	F336V	possibly damaging	Het
Akt3	A	T	1: 177,050,190	Y337*	probably null	Het
Aoc1	A	G	6: 48,905,937	N249S	probably benign	Het
Ap1b1	T	A	11: 5,019,427	L261Q	probably damaging	Het
Ap3b1	T	A	13: 94,462,509	D530E	probably benign	Het
Arid4b	T	A	13: 14,187,315	M788K	possibly damaging	Het
Atp2c2	A	T	8: 119,753,017	I762F	probably damaging	Het
Bhlhe23	C	A	2: 180,776,343	R134L	probably damaging	Het
Cacna2d3	T	C	14: 29,055,977	D687G	probably damaging	Het
Ccdc136	G	A	6: 29,405,941	M95I	probably benign	Het
Cdk12	T	A	11: 98,224,529	I832N	unknown	Het
Clcn2	A	C	16: 20,707,668		probably null	Het
Csrnp2	C	T	15: 100,482,693	R239Q	probably damaging	Het
Dhrs13	T	A	11: 78,037,139	D270E	probably benign	Het
Dlgap2	G	A	8: 14,743,284	G426D	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Fam120a	A	G	13: 48,891,964	Y799H	probably damaging	Het
Fam160b1	A	G	19: 57,378,745	D240G	probably benign	Het
Farp1	G	A	14: 121,222,654	V112I	probably benign	Het
Fsip2	A	G	2: 82,986,432	I4170V	probably benign	Het
Gm12185	A	G	11: 48,915,704	V220A	probably benign	Het
Gpr37l1	T	C	1: 135,167,122	Y128C	probably damaging	Het
Gsto2	A	T	19: 47,871,788	R7*	probably null	Het
Itih3	C	T	14: 30,909,473	G822D	probably benign	Het
Kcnu1	A	T	8: 25,913,645	D728V	probably damaging	Het
Lnpep	G	A	17: 17,530,496	T976I	probably damaging	Het
Map1b	A	C	13: 99,425,941	H2420Q	unknown	Het
Mc1r	A	G	8: 123,407,696	K63E	probably damaging	Het
Mpped1	G	A	15: 83,836,383	V15M	probably damaging	Het
Ncor1	T	C	11: 62,373,446	T103A	probably benign	Het
Nhsl1	A	T	10: 18,531,314	T1399S	probably benign	Het
Nlrc5	C	T	8: 94,490,368	T995M	probably benign	Het
Nrbp1	G	A	5: 31,245,846		probably null	Het
Olfr1065	T	C	2: 86,445,236	T249A	probably benign	Het
Olfr1221	G	T	2: 89,112,296	T72N	possibly damaging	Het
Olfr979	A	C	9: 40,001,197	F10C	probably damaging	Het
Pcdhb13	T	C	18: 37,443,610	L347P	probably damaging	Het
Pkhd1	T	C	1: 20,058,339	T4047A	probably benign	Het
Prrt2	T	A	7: 127,019,597	D232V	probably damaging	Het
Psmd5	A	C	2: 34,856,533	M344R	probably benign	Het
Pwp1	G	A	10: 85,884,533	E345K	probably damaging	Het
Qsox1	A	G	1: 155,791,105	Y213H	probably benign	Het
Sclt1	T	C	3: 41,730,902	R39G	unknown	Het
Syne1	A	T	10: 5,143,285		probably null	Het
Tmem163	G	T	1: 127,551,341	A147E	probably damaging	Het
Trav13n-4	A	T	14: 53,364,100	M109L	probably benign	Het
Trp53bp1	T	C	2: 121,209,309	E1283G	probably damaging	Het
Trpm6	T	A	19: 18,877,765	D1929E	probably damaging	Het
Upb1	A	T	10: 75,438,144	D335V	probably damaging	Het
Vps26b	T	C	9: 27,012,808	E213G	probably damaging	Het
Vwc2	C	T	11: 11,154,215	T249I	probably benign	Het
Wwc2	A	G	8: 47,900,791	Y103H	possibly damaging	Het
Zan	A	G	5: 137,393,147	C4692R	unknown	Het
Zfp106	T	C	2: 120,539,454	E29G	probably damaging	Het
Zfp551	G	A	7: 12,416,840	A214V	possibly damaging	Het
Zfp981	T	A	4: 146,537,906	H429Q	probably benign	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
R1160:2810403A07Rik	UTSW	3	88708862	missense	probably damaging	0.99
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
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

PCR Primer
(F):5'- ATAGGAATCTCGGGCACGTC -3'
(R):5'- ACGTGATCTTCACTCTAACCGG -3'

Sequencing Primer
(F):5'- ACGTCTCGGGACCATGG -3'
(R):5'- GGTTTCATCTTCATTAACCCCAATG -3'

Posted On

2018-08-29