Mutagenetix > Incidental Mutation

Incidental Mutation 'R1428:1700034J05Rik'

161391

Institutional Source

Beutler Lab

Gene Symbol

1700034J05Rik

Ensembl Gene

ENSMUSG00000040163

Gene Name

RIKEN cDNA 1700034J05 gene

Synonyms

MMRRC Submission

039484-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1428 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146950329-146954422 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146952411 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 249 (I249M)

Ref Sequence

ENSEMBL: ENSMUSP00000043802 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016631] [ENSMUST00000036592] [ENSMUST00000111622] [ENSMUST00000111623] [ENSMUST00000203730]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000016631

SMART Domains

Protein: ENSMUSP00000016631
Gene: ENSMUSG00000016487

Domain	Start	End	E-Value	Type
low complexity region	1	13	N/A	INTRINSIC
PDB:3QH9\|A	180	256	3e-8	PDB
low complexity region	345	358	N/A	INTRINSIC
low complexity region	426	441	N/A	INTRINSIC
low complexity region	530	546	N/A	INTRINSIC
SAM	603	670	3.06e-13	SMART
SAM	675	741	2.39e-15	SMART
SAM	763	835	7.91e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036592
AA Change: I249M

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043802
Gene: ENSMUSG00000040163
AA Change: I249M

Domain	Start	End	E-Value	Type
Pfam:DUF4640	18	301	2.7e-128	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111622
AA Change: I248M

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000107249
Gene: ENSMUSG00000040163
AA Change: I248M

Domain	Start	End	E-Value	Type
Pfam:DUF4640	18	300	1.3e-136	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111623

SMART Domains

Protein: ENSMUSP00000107250
Gene: ENSMUSG00000016487

Domain	Start	End	E-Value	Type
low complexity region	1	13	N/A	INTRINSIC
PDB:3QH9\|A	180	256	3e-8	PDB
low complexity region	272	284	N/A	INTRINSIC
low complexity region	356	369	N/A	INTRINSIC
low complexity region	437	452	N/A	INTRINSIC
low complexity region	541	557	N/A	INTRINSIC
SAM	614	681	3.06e-13	SMART
SAM	686	752	2.39e-15	SMART
SAM	774	846	7.91e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203730

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.2%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,219,369	Y1801N	possibly damaging	Het
Abl1	G	T	2: 31,801,810	A1114S	probably damaging	Het
Acbd5	T	C	2: 23,099,721	V452A	probably damaging	Het
Armc12	A	G	17: 28,537,936	D225G	probably damaging	Het
Atad3a	T	A	4: 155,755,682	Q121H	probably damaging	Het
Bptf	T	A	11: 107,073,047	I1711F	probably damaging	Het
C2cd4c	A	T	10: 79,612,230	I361N	probably damaging	Het
Canx	A	G	11: 50,308,394		probably benign	Het
Ccdc127	C	T	13: 74,356,915	T194I	probably benign	Het
Cdc42ep3	T	C	17: 79,335,036	K152E	probably benign	Het
Cdh15	G	C	8: 122,857,495	E112Q	probably damaging	Het
Cnbd2	T	C	2: 156,339,284		probably null	Het
Crybg1	T	C	10: 43,975,078	N1599S	probably benign	Het
Cyc1	T	C	15: 76,344,348	V59A	probably benign	Het
Cyp2j11	T	C	4: 96,294,880	K484E	probably benign	Het
Ddx60	T	C	8: 61,958,159		probably benign	Het
Epg5	T	C	18: 77,962,427	S711P	probably damaging	Het
Espl1	A	T	15: 102,305,685	Q649L	probably benign	Het
Eya1	G	A	1: 14,304,414		probably benign	Het
Fam214a	A	T	9: 75,006,321	T79S	probably benign	Het
Fam71e2	T	A	7: 4,757,688	H675L	possibly damaging	Het
Fat2	T	A	11: 55,296,087	Y1311F	probably damaging	Het
Gins4	T	C	8: 23,227,128	Y208C	probably damaging	Het
Gsk3b	T	C	16: 38,090,575	V17A	probably benign	Het
Gykl1	A	T	18: 52,694,761	K347I	probably benign	Het
Helz	T	A	11: 107,592,840		probably benign	Het
Hivep3	C	T	4: 120,096,575	T696I	possibly damaging	Het
Ifi27l2a	G	T	12: 103,442,834		probably benign	Het
Kif13a	A	G	13: 46,791,511		probably benign	Het
Kpna3	C	T	14: 61,383,220		probably benign	Het
Mmp15	C	G	8: 95,369,562	P327R	probably benign	Het
Mrc1	A	T	2: 14,315,263	T1003S	probably benign	Het
Mtss1	T	C	15: 58,947,390	D393G	probably benign	Het
Olfm4	T	A	14: 80,021,403	Y331N	probably damaging	Het
Olfr1255	G	C	2: 89,816,381	L12F	probably damaging	Het
Olfr517	T	A	7: 108,868,960	N65Y	probably damaging	Het
P2rx3	G	C	2: 85,024,950	T54R	possibly damaging	Het
Pacsin1	C	T	17: 27,705,963	T217I	probably damaging	Het
Phlpp1	A	G	1: 106,380,425		probably null	Het
Pknox1	T	C	17: 31,592,092		probably benign	Het
Plb1	A	G	5: 32,264,912	R70G	possibly damaging	Het
Rab3gap2	G	A	1: 185,247,904	A340T	probably damaging	Het
Rnf103	T	A	6: 71,508,999	W205R	probably damaging	Het
Rps6kc1	G	A	1: 190,798,726	T936M	probably damaging	Het
Spef2	T	C	15: 9,596,707		probably benign	Het
Sstr4	A	G	2: 148,396,359	S297G	probably benign	Het
Timm8a1	C	T	X: 134,538,123	E93K	probably benign	Het
Uck1	A	C	2: 32,258,355	Y150D	probably damaging	Het
Yipf4	A	G	17: 74,498,305		probably benign	Het

Other mutations in 1700034J05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01654:1700034J05Rik	APN	6	146953340	missense	probably damaging	1.00
IGL01725:1700034J05Rik	APN	6	146952269	missense	probably damaging	0.97
IGL01860:1700034J05Rik	APN	6	146952416	missense	possibly damaging	0.77
IGL01991:1700034J05Rik	APN	6	146953110	missense	probably benign	0.32
IGL02375:1700034J05Rik	APN	6	146953315	missense	possibly damaging	0.92
R0254:1700034J05Rik	UTSW	6	146952404	missense	probably benign	0.00
R0361:1700034J05Rik	UTSW	6	146952371	missense	possibly damaging	0.94
R0835:1700034J05Rik	UTSW	6	146953538	intron	probably benign
R1101:1700034J05Rik	UTSW	6	146952411	missense	possibly damaging	0.95
R1487:1700034J05Rik	UTSW	6	146953379	missense	probably benign	0.16
R1887:1700034J05Rik	UTSW	6	146952411	missense	possibly damaging	0.95
R1988:1700034J05Rik	UTSW	6	146952896	missense	possibly damaging	0.70
R1989:1700034J05Rik	UTSW	6	146952896	missense	possibly damaging	0.70
R4063:1700034J05Rik	UTSW	6	146953108	missense	probably benign	0.32
R6122:1700034J05Rik	UTSW	6	146952252	makesense	probably null
R6578:1700034J05Rik	UTSW	6	146953314	nonsense	probably null
R7029:1700034J05Rik	UTSW	6	146952343	missense	probably benign	0.00
R7585:1700034J05Rik	UTSW	6	146953353	missense	probably benign	0.00
R7842:1700034J05Rik	UTSW	6	146953536	missense	unknown
R9272:1700034J05Rik	UTSW	6	146953001	missense	probably damaging	1.00
R9444:1700034J05Rik	UTSW	6	146953226	missense	probably damaging	1.00
X0066:1700034J05Rik	UTSW	6	146953540	start codon destroyed	probably null

Predicted Primers

PCR Primer
(F):5'- TCAAGACAGCAGTTCTGGTGGTCC -3'
(R):5'- GACAGCAGGCCCACTGATTTTGAC -3'

Sequencing Primer
(F):5'- AGATTGGAAACTCCCACTGTG -3'
(R):5'- AGGCCCACTGATTTTGACACTAC -3'

Posted On

2014-03-14