Mutagenetix > Incidental Mutation

Incidental Mutation 'R0305:2310022A10Rik'

24895

Institutional Source

Beutler Lab

Gene Symbol

2310022A10Rik

Ensembl Gene

ENSMUSG00000049643

Gene Name

RIKEN cDNA 2310022A10 gene

Synonyms

MMRRC Submission

038516-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R0305 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27252658-27281524 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 27274061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 183 (R183Q)

Ref Sequence

ENSEMBL: ENSMUSP00000139423 (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: R189Q

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000066803
Gene: ENSMUSG00000049643
AA Change: R189Q

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

noncoding transcript
Transcript: ENSMUST00000186501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186826

Predicted Effect

probably damaging
Transcript: ENSMUST00000187032
AA Change: R183Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139423
Gene: ENSMUSG00000049643
AA Change: R183Q

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: R189Q

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140651
Gene: ENSMUSG00000049643
AA Change: R189Q

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

unknown
Transcript: ENSMUST00000190656
AA Change: G101S

Predicted Effect

probably damaging
Transcript: ENSMUST00000191126
AA Change: R163Q

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

SMART Domains

Protein: ENSMUSP00000139696
Gene: ENSMUSG00000049643
AA Change: R163Q

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

Meta Mutation Damage Score

0.2710

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 91.2%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,164,137 (GRCm39)		probably benign	Het
Ada	T	C	2: 163,570,077 (GRCm39)	K312R	probably benign	Het
Adam21	C	A	12: 81,607,059 (GRCm39)	K234N	possibly damaging	Het
Afdn	T	A	17: 14,108,776 (GRCm39)		probably null	Het
Aimp1	T	G	3: 132,379,747 (GRCm39)	K132Q	possibly damaging	Het
Aldh16a1	C	T	7: 44,797,403 (GRCm39)	R135Q	probably damaging	Het
Alox12b	A	T	11: 69,058,205 (GRCm39)	Y519F	probably benign	Het
Alppl2	T	C	1: 87,017,324 (GRCm39)	E25G	probably benign	Het
Apob	A	T	12: 8,062,210 (GRCm39)	N3531I	probably damaging	Het
Arhgap23	T	C	11: 97,391,935 (GRCm39)	L321P	probably damaging	Het
Cab39l	C	T	14: 59,757,028 (GRCm39)	Q137*	probably null	Het
Cenpo	A	T	12: 4,266,660 (GRCm39)	H149Q	possibly damaging	Het
Cpt1a	A	G	19: 3,428,455 (GRCm39)	T610A	probably benign	Het
Dcbld2	A	G	16: 58,269,302 (GRCm39)	T271A	probably damaging	Het
Dcps	A	G	9: 35,087,065 (GRCm39)		probably null	Het
Dnai2	A	G	11: 114,643,720 (GRCm39)	D462G	probably benign	Het
Dsg2	T	A	18: 20,715,752 (GRCm39)		probably benign	Het
Eomes	A	T	9: 118,313,825 (GRCm39)	E623D	probably benign	Het
Fras1	A	T	5: 96,744,747 (GRCm39)	H594L	probably benign	Het
Gad1-ps	T	G	10: 99,280,665 (GRCm39)		noncoding transcript	Het
Galk2	A	G	2: 125,729,808 (GRCm39)	Y63C	probably damaging	Het
H2-T10	A	G	17: 36,430,260 (GRCm39)	L227P	probably damaging	Het
Itgb4	T	G	11: 115,870,238 (GRCm39)	C73G	probably damaging	Het
Itpr2	T	C	6: 146,212,601 (GRCm39)	H1472R	possibly damaging	Het
Kcnh5	C	T	12: 75,161,171 (GRCm39)	A246T	probably benign	Het
Kpna6	G	T	4: 129,543,042 (GRCm39)	R458S	probably benign	Het
Lifr	A	G	15: 7,206,982 (GRCm39)	T498A	probably damaging	Het
Lrrd1	T	G	5: 3,915,707 (GRCm39)	I768S	probably damaging	Het
Map2	T	C	1: 66,452,253 (GRCm39)	V223A	probably benign	Het
Nod2	G	A	8: 89,391,951 (GRCm39)	A731T	probably damaging	Het
Nrxn2	G	A	19: 6,569,313 (GRCm39)	C1403Y	probably damaging	Het
Nxph1	A	T	6: 9,247,754 (GRCm39)	I242F	probably damaging	Het
Or5p79	G	A	7: 108,221,792 (GRCm39)	V258I	probably benign	Het
Pgr	A	G	9: 8,902,088 (GRCm39)		probably benign	Het
Pik3cb	A	G	9: 98,946,129 (GRCm39)	S566P	possibly damaging	Het
Sema4d	T	C	13: 51,866,764 (GRCm39)	Y242C	probably damaging	Het
Sftpc	T	A	14: 70,761,518 (GRCm39)		probably benign	Het
Sh3tc1	T	G	5: 35,881,343 (GRCm39)	E33D	probably benign	Het
Slc17a5	A	G	9: 78,464,819 (GRCm39)	L344P	probably benign	Het
Slc39a5	T	A	10: 128,234,265 (GRCm39)		probably benign	Het
Slc7a13	C	A	4: 19,839,401 (GRCm39)	H335N	probably benign	Het
Slco1a4	A	C	6: 141,763,479 (GRCm39)	N412K	possibly damaging	Het
Sox1	A	T	8: 12,446,736 (GRCm39)	T126S	probably damaging	Het
Specc1l	T	A	10: 75,081,663 (GRCm39)	V353E	probably damaging	Het
Stat5b	T	C	11: 100,693,329 (GRCm39)	E104G	probably benign	Het
Sult4a1	A	G	15: 83,970,868 (GRCm39)	V179A	probably damaging	Het
Tafa5	T	A	15: 87,604,709 (GRCm39)	I83N	probably damaging	Het
Tbl3	G	A	17: 24,924,435 (GRCm39)	R134C	probably damaging	Het
Tmem256	T	A	11: 69,729,737 (GRCm39)		probably benign	Het
Tmigd1	A	G	11: 76,797,960 (GRCm39)	T101A	probably damaging	Het
Unc5b	C	A	10: 60,615,437 (GRCm39)		probably benign	Het
Unc79	T	A	12: 103,079,459 (GRCm39)	S1679T	probably benign	Het
Vmn2r1	T	G	3: 63,997,087 (GRCm39)	C248G	probably damaging	Het
Vmn2r57	T	C	7: 41,076,967 (GRCm39)	I400V	probably benign	Het
Vwa8	T	A	14: 79,246,713 (GRCm39)	L685H	probably damaging	Het
Yeats4	A	G	10: 117,051,741 (GRCm39)	F172S	probably damaging	Het
Zfpm2	T	G	15: 40,637,431 (GRCm39)		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
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
R8244:2310022A10Rik	UTSW	7	27,271,004 (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'- CCAGTCACACCAGTGAGCAATGAG -3'
(R):5'- TGAGCCCAGCGTATAACCCATGAG -3'

Sequencing Primer
(F):5'- ttgtgagttgagaccagcc -3'
(R):5'- CATGAGCCCAGCGTATGATG -3'

Posted On

2013-04-16