Mutagenetix > Incidental Mutation

Incidental Mutation 'R1019:9130401M01Rik'

96793

Institutional Source

Beutler Lab

Gene Symbol

9130401M01Rik

Ensembl Gene

ENSMUSG00000101892

Gene Name

RIKEN cDNA 9130401M01 gene

Synonyms

MMRRC Submission

039123-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R1019 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57885666-57897690 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57885823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 353 (I353T)

Ref Sequence

ENSEMBL: ENSMUSP00000098220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100655]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100655
AA Change: I353T

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000098220
Gene: ENSMUSG00000101892
AA Change: I353T

Domain	Start	End	E-Value	Type
low complexity region	18	30	N/A	INTRINSIC
SCOP:d1elwa_	49	174	2e-7	SMART
low complexity region	207	220	N/A	INTRINSIC
low complexity region	241	278	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187062

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	C	8: 120,872,209 (GRCm39)	E46Q	probably damaging	Het
A830031A19Rik	G	A	11: 23,999,438 (GRCm39)	R53C	unknown	Het
Abcc6	T	C	7: 45,663,531 (GRCm39)	R378G	possibly damaging	Het
Adam10	A	G	9: 70,668,922 (GRCm39)	N413D	probably benign	Het
Csmd2	T	C	4: 128,415,807 (GRCm39)	V2712A	probably benign	Het
Dnhd1	T	C	7: 105,358,378 (GRCm39)	F3289S	probably damaging	Het
Hectd1	A	G	12: 51,795,440 (GRCm39)	S2330P	probably damaging	Het
Ift74	C	T	4: 94,524,072 (GRCm39)	A196V	probably benign	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Lipo2	A	T	19: 33,708,257 (GRCm39)	C252*	probably null	Het
Mrgpra1	C	G	7: 46,984,833 (GRCm39)	C282S	probably benign	Het
Nfatc2	A	T	2: 168,346,799 (GRCm39)	L765Q	probably damaging	Het
Or13a26	C	T	7: 140,284,407 (GRCm39)	P81L	probably damaging	Het
Or1l8	A	G	2: 36,817,764 (GRCm39)	F121L	probably benign	Het
Otof	C	A	5: 30,528,087 (GRCm39)	V1924L	probably damaging	Het
Pdhb	T	C	14: 8,171,442 (GRCm38)	Q62R	probably benign	Het
Plbd1	A	G	6: 136,628,903 (GRCm39)	V55A	probably benign	Het
Poteg	T	A	8: 27,937,852 (GRCm39)	F3I	possibly damaging	Het
Rptor	A	G	11: 119,734,569 (GRCm39)	D46G	probably damaging	Het
Slc18a1	C	T	8: 69,527,685 (GRCm39)		probably null	Het
Slc37a1	A	G	17: 31,534,568 (GRCm39)	N80S	probably benign	Het
Slc6a18	T	A	13: 73,825,998 (GRCm39)	R17S	probably damaging	Het
Spata31d1a	A	G	13: 59,850,182 (GRCm39)	S649P	probably benign	Het
Syngr3	G	T	17: 24,906,534 (GRCm39)	Q94K	possibly damaging	Het
Tgm2	C	A	2: 157,966,074 (GRCm39)	E527*	probably null	Het
Tnc	T	A	4: 63,880,319 (GRCm39)	T1952S	probably damaging	Het
Ubqln3	C	T	7: 103,790,593 (GRCm39)	R499Q	probably benign	Het
Uck1	A	G	2: 32,146,205 (GRCm39)	V230A	possibly damaging	Het
Unc13d	G	A	11: 115,958,900 (GRCm39)	R754C	probably benign	Het
Zfp708	C	T	13: 67,222,162 (GRCm39)	A73T	probably benign	Het

Other mutations in 9130401M01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0316:9130401M01Rik	UTSW	15	57,888,765 (GRCm39)	missense	probably damaging	0.96
R0318:9130401M01Rik	UTSW	15	57,892,370 (GRCm39)	missense	probably damaging	0.96
R0322:9130401M01Rik	UTSW	15	57,888,768 (GRCm39)	missense	possibly damaging	0.90
R0365:9130401M01Rik	UTSW	15	57,892,088 (GRCm39)	missense	probably benign	0.00
R1432:9130401M01Rik	UTSW	15	57,892,256 (GRCm39)	missense	probably damaging	1.00
R3195:9130401M01Rik	UTSW	15	57,892,132 (GRCm39)	missense	probably benign	0.31
R3196:9130401M01Rik	UTSW	15	57,892,132 (GRCm39)	missense	probably benign	0.31
R6439:9130401M01Rik	UTSW	15	57,895,444 (GRCm39)	missense	probably null	0.92
R6953:9130401M01Rik	UTSW	15	57,892,223 (GRCm39)	missense	probably damaging	0.99
R7724:9130401M01Rik	UTSW	15	57,885,857 (GRCm39)	missense	probably benign	0.03
R7739:9130401M01Rik	UTSW	15	57,885,875 (GRCm39)	missense	probably benign	0.24
R8879:9130401M01Rik	UTSW	15	57,885,905 (GRCm39)	missense	probably damaging	1.00
R9045:9130401M01Rik	UTSW	15	57,892,130 (GRCm39)	missense	possibly damaging	0.76
R9257:9130401M01Rik	UTSW	15	57,892,414 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AGCACAGCCTCTGCATTTACATTCC -3'
(R):5'- TCTCCTCGTGCTGATACAGGCTATG -3'

Sequencing Primer
(F):5'- CTGCATTTACATTCCCAACAGG -3'
(R):5'- CTATGGGGGAAGACATTGTCC -3'

Posted On

2014-01-05