Mutagenetix > Incidental Mutation

Incidental Mutation 'R6439:9130401M01Rik'

518948

Institutional Source

Beutler Lab

Gene Symbol

9130401M01Rik

Ensembl Gene

ENSMUSG00000101892

Gene Name

RIKEN cDNA 9130401M01 gene

Synonyms

MMRRC Submission

044577-MU

Accession Numbers

Essential gene?

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

Stock #

R6439 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57885666-57897690 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57895444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 18 (D18G)

Ref Sequence

ENSEMBL: ENSMUSP00000135403 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100655] [ENSMUST00000176935] [ENSMUST00000177176] [ENSMUST00000185553]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000100655
AA Change: D50G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098220
Gene: ENSMUSG00000101892
AA Change: D50G

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

probably benign
Transcript: ENSMUST00000176935

SMART Domains

Protein: ENSMUSP00000134752
Gene: ENSMUSG00000022362

Domain	Start	End	E-Value	Type
low complexity region	64	75	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000177176
AA Change: D18G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000185553

SMART Domains

Protein: ENSMUSP00000140805
Gene: ENSMUSG00000101892

Domain	Start	End	E-Value	Type
low complexity region	18	30	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187062

Predicted Effect

probably benign
Transcript: ENSMUST00000189159

Meta Mutation Damage Score

0.2656

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	G	17: 48,473,653 (GRCm39)	V88A	probably damaging	Het
Abhd6	T	C	14: 8,055,589 (GRCm38)	L272P	probably damaging	Het
Adam25	C	T	8: 41,207,627 (GRCm39)	R298C	possibly damaging	Het
Adam34l	T	C	8: 44,078,988 (GRCm39)	N412S	probably damaging	Het
Afap1l2	T	C	19: 56,916,818 (GRCm39)	N219D	possibly damaging	Het
Brd3	A	G	2: 27,353,938 (GRCm39)	F58S	probably damaging	Het
Ceacam3	G	A	7: 16,892,253 (GRCm39)	R332H	possibly damaging	Het
Cfap57	C	A	4: 118,446,172 (GRCm39)		probably null	Het
Chd2	A	G	7: 73,130,154 (GRCm39)	F834L	probably damaging	Het
Crocc2	A	G	1: 93,111,126 (GRCm39)	K140E	possibly damaging	Het
Fam117b	A	G	1: 60,020,731 (GRCm39)	T534A	probably benign	Het
Fchsd1	C	T	18: 38,102,487 (GRCm39)	V14I	probably damaging	Het
Grid2ip	A	T	5: 143,359,257 (GRCm39)	E291V	probably damaging	Het
Hbp1	A	G	12: 31,987,720 (GRCm39)	L146S	probably damaging	Het
Hr	A	G	14: 70,799,276 (GRCm39)	D616G	possibly damaging	Het
Igfbp5	A	C	1: 72,902,300 (GRCm39)		probably null	Het
Jak2	C	T	19: 29,287,022 (GRCm39)		probably null	Het
Mpl	T	C	4: 118,305,750 (GRCm39)	D425G	probably damaging	Het
Ms4a4c	T	C	19: 11,398,676 (GRCm39)	S165P	probably benign	Het
Mycbp2	A	G	14: 103,392,911 (GRCm39)	S3217P	probably benign	Het
Nfatc3	T	A	8: 106,810,502 (GRCm39)	L426*	probably null	Het
Or4f47	T	C	2: 111,972,509 (GRCm39)	V73A	probably benign	Het
Or5ak24	T	C	2: 85,261,068 (GRCm39)	Y35C	probably damaging	Het
Or7a42	T	A	10: 78,791,818 (GRCm39)	Y260N	probably damaging	Het
Phf1	G	T	17: 27,155,586 (GRCm39)	V384L	probably benign	Het
Rangap1	T	C	15: 81,596,336 (GRCm39)	T259A	probably benign	Het
Rec8	A	G	14: 55,856,076 (GRCm39)	N6S	possibly damaging	Het
Rmdn2	G	A	17: 79,934,971 (GRCm39)		probably benign	Het
Scin	T	C	12: 40,118,945 (GRCm39)	Y617C	probably damaging	Het
Ttc13	T	C	8: 125,400,221 (GRCm39)	S744G	probably benign	Het
Ttc14	T	C	3: 33,862,968 (GRCm39)		probably benign	Het
Uggt1	T	C	1: 36,214,032 (GRCm39)	E219G	possibly damaging	Het
Vmn1r183	A	G	7: 23,754,704 (GRCm39)	D169G	possibly damaging	Het
Vmn1r72	A	T	7: 11,413,064 (GRCm39)		probably null	Het
Zfp326	T	G	5: 106,036,584 (GRCm39)	M76R	probably null	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
R1019:9130401M01Rik	UTSW	15	57,885,823 (GRCm39)	missense	possibly damaging	0.47
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
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'- TGGACCCTGTAGAAAAGGCG -3'
(R):5'- CAGAATATAGCCATCCCTTGTCC -3'

Sequencing Primer
(F):5'- GTCTAAGATTATCTATAGGCCCCAC -3'
(R):5'- GAATATAGCCATCCCTTGTCCATTGC -3'

Posted On

2018-05-24