Mutagenetix > Incidental Mutation

Incidental Mutation 'R1101:1700034J05Rik'

98084

Institutional Source

Beutler Lab

Gene Symbol

1700034J05Rik

Ensembl Gene

ENSMUSG00000040163

Gene Name

RIKEN cDNA 1700034J05 gene

Synonyms

MMRRC Submission

039174-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1101 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

146852799-146855937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146853909 bp (GRCm39)

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	A	7: 41,276,783 (GRCm39)	H829N	probably damaging	Het
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Abi3bp	G	T	16: 56,426,521 (GRCm39)	R512L	probably damaging	Het
Acot2	T	G	12: 84,039,624 (GRCm39)	S378A	probably benign	Het
Akap9	T	C	5: 4,096,205 (GRCm39)	I2360T	probably benign	Het
Bank1	T	C	3: 135,989,625 (GRCm39)	D155G	probably benign	Het
Bsn	A	G	9: 107,993,610 (GRCm39)	V714A	probably damaging	Het
Cdh15	G	A	8: 123,587,585 (GRCm39)	V170I	possibly damaging	Het
Clcn2	G	A	16: 20,522,345 (GRCm39)	T787I	probably damaging	Het
Dapk1	A	G	13: 60,864,599 (GRCm39)	H131R	probably damaging	Het
Dct	T	G	14: 118,274,034 (GRCm39)	D291A	probably damaging	Het
Dhx37	A	G	5: 125,492,216 (GRCm39)	Y1128H	probably damaging	Het
Dip2c	A	T	13: 9,684,780 (GRCm39)	I1174F	probably damaging	Het
Eif3l	A	G	15: 78,959,467 (GRCm39)	Y3C	probably damaging	Het
Enpp5	A	G	17: 44,392,258 (GRCm39)	N229S	possibly damaging	Het
Fam83b	A	T	9: 76,452,952 (GRCm39)	H38Q	possibly damaging	Het
Fcamr	T	A	1: 130,742,223 (GRCm39)		probably null	Het
Hdac2	G	A	10: 36,867,805 (GRCm39)	V184I	probably damaging	Het
Igf2bp2	A	T	16: 21,981,700 (GRCm39)	L5Q	probably damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Ireb2	T	A	9: 54,816,986 (GRCm39)	H951Q	probably benign	Het
Lman1	T	A	18: 66,120,969 (GRCm39)	M418L	probably benign	Het
Lrrfip2	C	T	9: 111,019,293 (GRCm39)	R275W	probably damaging	Het
Mast3	T	A	8: 71,239,307 (GRCm39)	I424F	probably damaging	Het
Mep1a	T	C	17: 43,802,584 (GRCm39)	D147G	probably benign	Het
Mtr	C	A	13: 12,204,411 (GRCm39)	E1128D	possibly damaging	Het
Ogfod1	C	A	8: 94,790,932 (GRCm39)	S534R	probably benign	Het
Or4c107	A	T	2: 88,789,328 (GRCm39)	I173F	possibly damaging	Het
Or4k42	T	C	2: 111,319,787 (GRCm39)	T239A	probably damaging	Het
Or5k1	A	G	16: 58,617,615 (GRCm39)	V198A	probably benign	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pcdh18	T	A	3: 49,707,828 (GRCm39)	D882V	probably damaging	Het
Pik3cg	C	T	12: 32,245,645 (GRCm39)	G868S	probably null	Het
Plppr5	T	G	3: 117,456,172 (GRCm39)	M231R	probably damaging	Het
Polr2a	T	C	11: 69,638,897 (GRCm39)	T46A	probably benign	Het
Ppp4r3a	C	A	12: 101,017,830 (GRCm39)	R440L	probably damaging	Het
Serpinb9e	A	T	13: 33,444,071 (GRCm39)	T364S	probably benign	Het
Sirt3	A	G	7: 140,449,541 (GRCm39)	V135A	possibly damaging	Het
Supt16	T	C	14: 52,408,896 (GRCm39)	N826S	probably null	Het
Tbr1	T	C	2: 61,635,083 (GRCm39)	I11T	probably benign	Het
Trim72	A	G	7: 127,609,419 (GRCm39)	E407G	possibly damaging	Het
Vps72	C	A	3: 95,026,487 (GRCm39)	T144K	probably damaging	Het

Other mutations in 1700034J05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01654:1700034J05Rik	APN	6	146,854,838 (GRCm39)	missense	probably damaging	1.00
IGL01725:1700034J05Rik	APN	6	146,853,767 (GRCm39)	missense	probably damaging	0.97
IGL01860:1700034J05Rik	APN	6	146,853,914 (GRCm39)	missense	possibly damaging	0.77
IGL01991:1700034J05Rik	APN	6	146,854,608 (GRCm39)	missense	probably benign	0.32
IGL02375:1700034J05Rik	APN	6	146,854,813 (GRCm39)	missense	possibly damaging	0.92
R0254:1700034J05Rik	UTSW	6	146,853,902 (GRCm39)	missense	probably benign	0.00
R0361:1700034J05Rik	UTSW	6	146,853,869 (GRCm39)	missense	possibly damaging	0.94
R0835:1700034J05Rik	UTSW	6	146,855,036 (GRCm39)	intron	probably benign
R1428:1700034J05Rik	UTSW	6	146,853,909 (GRCm39)	missense	possibly damaging	0.95
R1487:1700034J05Rik	UTSW	6	146,854,877 (GRCm39)	missense	probably benign	0.16
R1887:1700034J05Rik	UTSW	6	146,853,909 (GRCm39)	missense	possibly damaging	0.95
R1988:1700034J05Rik	UTSW	6	146,854,394 (GRCm39)	missense	possibly damaging	0.70
R1989:1700034J05Rik	UTSW	6	146,854,394 (GRCm39)	missense	possibly damaging	0.70
R4063:1700034J05Rik	UTSW	6	146,854,606 (GRCm39)	missense	probably benign	0.32
R6122:1700034J05Rik	UTSW	6	146,853,750 (GRCm39)	makesense	probably null
R6578:1700034J05Rik	UTSW	6	146,854,812 (GRCm39)	nonsense	probably null
R7029:1700034J05Rik	UTSW	6	146,853,841 (GRCm39)	missense	probably benign	0.00
R7585:1700034J05Rik	UTSW	6	146,854,851 (GRCm39)	missense	probably benign	0.00
R7842:1700034J05Rik	UTSW	6	146,855,034 (GRCm39)	missense	unknown
R9272:1700034J05Rik	UTSW	6	146,854,499 (GRCm39)	missense	probably damaging	1.00
R9444:1700034J05Rik	UTSW	6	146,854,724 (GRCm39)	missense	probably damaging	1.00
X0066:1700034J05Rik	UTSW	6	146,855,038 (GRCm39)	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

2014-01-05