Mutagenetix > Incidental Mutation

Incidental Mutation 'R8244:2310022A10Rik'

640868

Institutional Source

Beutler Lab

Gene Symbol

2310022A10Rik

Ensembl Gene

ENSMUSG00000049643

Gene Name

RIKEN cDNA 2310022A10 gene

Synonyms

MMRRC Submission

067672-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R8244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27252658-27281524 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27271004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 133 (I133T)

Ref Sequence

ENSEMBL: ENSMUSP00000066803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067386] [ENSMUST00000187032] [ENSMUST00000187960] [ENSMUST00000191126]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000067386
AA Change: I133T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066803
Gene: ENSMUSG00000049643
AA Change: I133T

Domain	Start	End	E-Value	Type
Blast:SAM	34	100	5e-20	BLAST
SCOP:d1b4fa_	54	100	7e-5	SMART
low complexity region	164	176	N/A	INTRINSIC
low complexity region	268	277	N/A	INTRINSIC
low complexity region	300	325	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000187032
AA Change: I127T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139423
Gene: ENSMUSG00000049643
AA Change: I127T

Domain	Start	End	E-Value	Type
Blast:SAM	28	92	4e-20	BLAST
SCOP:d1b4fa_	48	94	6e-5	SMART
low complexity region	158	170	N/A	INTRINSIC
low complexity region	262	271	N/A	INTRINSIC
low complexity region	294	319	N/A	INTRINSIC
low complexity region	378	386	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187960
AA Change: I133T

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140651
Gene: ENSMUSG00000049643
AA Change: I133T

Domain	Start	End	E-Value	Type
Blast:SAM	34	98	4e-20	BLAST
SCOP:d1b4fa_	54	100	6e-5	SMART
low complexity region	164	176	N/A	INTRINSIC
low complexity region	268	277	N/A	INTRINSIC
low complexity region	300	325	N/A	INTRINSIC
low complexity region	384	392	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191126
AA Change: I107T

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000139696
Gene: ENSMUSG00000049643
AA Change: I107T

Domain	Start	End	E-Value	Type
Blast:SAM	8	74	1e-22	BLAST
SCOP:d1b4fa_	28	74	4e-5	SMART
low complexity region	138	150	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	C	T	19: 8,993,037 (GRCm39)	P4774S	probably benign	Het
Alg5	A	G	3: 54,646,221 (GRCm39)	I29V	probably benign	Het
Ankar	A	G	1: 72,690,183 (GRCm39)	I1216T	probably benign	Het
Ap5z1	A	T	5: 142,459,735 (GRCm39)	T462S	possibly damaging	Het
Apc2	A	T	10: 80,151,166 (GRCm39)	R2073S	probably damaging	Het
Apob	A	T	12: 8,060,548 (GRCm39)	E3010V	probably damaging	Het
Arid3c	T	G	4: 41,729,997 (GRCm39)	E66A	possibly damaging	Het
Atf7	A	G	15: 102,437,301 (GRCm39)	S54P	unknown	Het
Cbx3	C	T	6: 51,452,350 (GRCm39)	T55I	probably benign	Het
Clptm1	A	T	7: 19,372,916 (GRCm39)	F205I	possibly damaging	Het
Cramp1	T	A	17: 25,190,384 (GRCm39)	I1117F	probably damaging	Het
Dgkq	A	G	5: 108,796,578 (GRCm39)	*935Q	probably null	Het
Dock2	A	T	11: 34,586,280 (GRCm39)	F511I	probably damaging	Het
Efr3a	G	A	15: 65,687,217 (GRCm39)	R15H	probably damaging	Het
Ehmt2	A	G	17: 35,124,238 (GRCm39)	D385G	probably damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Gfpt1	T	A	6: 87,040,613 (GRCm39)		probably benign	Het
Gm21680	T	C	5: 26,173,983 (GRCm39)	E207G	probably damaging	Het
Igsf23	A	T	7: 19,675,798 (GRCm39)	C141S	possibly damaging	Het
Ktn1	A	T	14: 47,912,280 (GRCm39)	E349V	probably null	Het
Lrp1b	T	C	2: 41,396,794 (GRCm39)	D424G		Het
Lrrc9	A	G	12: 72,546,384 (GRCm39)	I1190V	probably benign	Het
Lztfl1	T	A	9: 123,541,514 (GRCm39)	I102F	probably damaging	Het
Mapk11	G	T	15: 89,030,007 (GRCm39)	T203K	possibly damaging	Het
Mgam	T	A	6: 40,727,520 (GRCm39)	I1315N	probably damaging	Het
Nf1	T	C	11: 79,331,750 (GRCm39)	M695T	probably benign	Het
Pdcd4	A	G	19: 53,895,965 (GRCm39)	T8A	probably benign	Het
Pramel27	T	C	4: 143,579,854 (GRCm39)	Y480H	probably damaging	Het
Ptx4	A	G	17: 25,341,839 (GRCm39)	K105E	possibly damaging	Het
Pxn	C	T	5: 115,690,302 (GRCm39)	P381L	probably damaging	Het
Rtn4rl1	T	C	11: 75,156,276 (GRCm39)	L236P	probably damaging	Het
Sall3	G	A	18: 81,016,969 (GRCm39)	P320S	probably benign	Het
Sh2b2	G	T	5: 136,256,291 (GRCm39)	S247*	probably null	Het
Sim2	T	A	16: 93,910,222 (GRCm39)	V208E	probably damaging	Het
Slc44a4	T	C	17: 35,140,548 (GRCm39)	L247P	probably damaging	Het
Sox1	GGGCGGCGGCGGCGGCGG	GGGCGGCGGCGGCGG	8: 12,446,468 (GRCm39)		probably benign	Het
Tacc2	A	G	7: 130,330,406 (GRCm39)	D1937G	probably damaging	Het
Tmem131	T	C	1: 36,847,974 (GRCm39)	N1158S	probably benign	Het
Tns1	G	T	1: 73,976,410 (GRCm39)	A1146E	probably damaging	Het
Tom1l1	T	C	11: 90,548,647 (GRCm39)	E308G	probably benign	Het
Ttn	T	A	2: 76,659,051 (GRCm39)	K12262*	probably null	Het
Vps13b	G	T	15: 35,917,349 (GRCm39)	G3731V	probably damaging	Het
Wdr20	G	A	12: 110,760,076 (GRCm39)	E321K	probably benign	Het
Zfp516	G	T	18: 82,974,458 (GRCm39)	G219C	probably damaging	Het
Zfp979	A	T	4: 147,697,933 (GRCm39)	C259S	possibly damaging	Het
Zscan20	T	C	4: 128,479,759 (GRCm39)	T911A	probably benign	Het

Other mutations in 2310022A10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02292:2310022A10Rik	APN	7	27,263,982 (GRCm39)	missense	probably benign	0.05
IGL03261:2310022A10Rik	APN	7	27,279,863 (GRCm39)	nonsense	probably null
R0305:2310022A10Rik	UTSW	7	27,274,061 (GRCm39)	missense	probably damaging	1.00
R1080:2310022A10Rik	UTSW	7	27,265,109 (GRCm39)	missense	probably benign
R1696:2310022A10Rik	UTSW	7	27,260,022 (GRCm39)	missense	possibly damaging	0.94
R1773:2310022A10Rik	UTSW	7	27,280,020 (GRCm39)	missense	probably damaging	0.98
R4171:2310022A10Rik	UTSW	7	27,265,109 (GRCm39)	missense	probably benign
R4583:2310022A10Rik	UTSW	7	27,274,017 (GRCm39)	missense	unknown
R4781:2310022A10Rik	UTSW	7	27,271,076 (GRCm39)	missense	probably damaging	1.00
R4806:2310022A10Rik	UTSW	7	27,265,070 (GRCm39)	critical splice acceptor site	probably null
R4998:2310022A10Rik	UTSW	7	27,271,088 (GRCm39)	missense	probably damaging	1.00
R5000:2310022A10Rik	UTSW	7	27,255,946 (GRCm39)	missense	probably benign	0.04
R5007:2310022A10Rik	UTSW	7	27,278,192 (GRCm39)	missense	probably damaging	1.00
R5008:2310022A10Rik	UTSW	7	27,278,192 (GRCm39)	missense	probably damaging	1.00
R5364:2310022A10Rik	UTSW	7	27,278,192 (GRCm39)	missense	probably damaging	1.00
R6119:2310022A10Rik	UTSW	7	27,265,138 (GRCm39)	nonsense	probably null
R6991:2310022A10Rik	UTSW	7	27,279,871 (GRCm39)	missense	probably damaging	1.00
R7014:2310022A10Rik	UTSW	7	27,278,198 (GRCm39)	nonsense	probably null
R7519:2310022A10Rik	UTSW	7	27,274,155 (GRCm39)	missense
R7787:2310022A10Rik	UTSW	7	27,263,926 (GRCm39)	missense	probably damaging	1.00
R8525:2310022A10Rik	UTSW	7	27,255,936 (GRCm39)	missense	possibly damaging	0.64
R9246:2310022A10Rik	UTSW	7	27,279,961 (GRCm39)	missense	probably benign	0.06
R9500:2310022A10Rik	UTSW	7	27,265,091 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TTCCTGAGCATACCCAGCAG -3'
(R):5'- GCACCTCGCCACATTTAGAAG -3'

Sequencing Primer
(F):5'- GCATACCCAGCAGGAGGAC -3'
(R):5'- GCCACATTTAGAAGTAACACATACG -3'

Posted On

2020-07-28