Mutagenetix > Incidental Mutation

Incidental Mutation 'R0319:9130023H24Rik'

25559

Institutional Source

Beutler Lab

Gene Symbol

9130023H24Rik

Ensembl Gene

ENSMUSG00000062944

Gene Name

RIKEN cDNA 9130023H24 gene

Synonyms

MMRRC Submission

038529-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R0319 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127833630-127837203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 127836362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 77 (V77G)

Ref Sequence

ENSEMBL: ENSMUSP00000077867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044660] [ENSMUST00000078816]

AlphaFold

Q8BG98

Predicted Effect

probably benign
Transcript: ENSMUST00000044660

SMART Domains

Protein: ENSMUSP00000040568
Gene: ENSMUSG00000042178

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	62	104	N/A	INTRINSIC
ARM	137	179	2.89e-1	SMART
ARM	180	221	3.32e-1	SMART
ARM	222	263	2.93e-2	SMART
Blast:ARM	265	306	1e-8	BLAST
low complexity region	313	338	N/A	INTRINSIC
ARM	353	399	4.88e0	SMART
low complexity region	418	431	N/A	INTRINSIC
low complexity region	670	690	N/A	INTRINSIC
Pfam:BTB	742	854	9.6e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000078816
AA Change: V77G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000077867
Gene: ENSMUSG00000062944
AA Change: V77G

Domain	Start	End	E-Value	Type
ZnF_C2H2	88	110	1.89e-1	SMART
ZnF_C2H2	116	138	7.49e-5	SMART
ZnF_C2H2	144	166	1.12e-3	SMART
ZnF_C2H2	172	194	2.4e-3	SMART
ZnF_C2H2	200	222	1.95e-3	SMART
ZnF_C2H2	228	250	3.89e-3	SMART
ZnF_C2H2	256	278	1.1e-2	SMART
ZnF_C2H2	284	306	1.33e-1	SMART
ZnF_C2H2	312	334	2.53e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206509

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 95.0%
20x: 89.1%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,877,428 (GRCm39)	R663G	probably benign	Het
Acly	A	G	11: 100,395,808 (GRCm39)	V404A	probably damaging	Het
Actg2	T	A	6: 83,497,725 (GRCm39)	I103F	probably damaging	Het
Anapc5	A	G	5: 122,956,919 (GRCm39)	V120A	probably damaging	Het
Ankk1	T	G	9: 49,327,371 (GRCm39)	T603P	probably damaging	Het
Ankmy2	T	C	12: 36,215,898 (GRCm39)	S33P	possibly damaging	Het
Arhgef19	A	T	4: 140,983,710 (GRCm39)	T748S	possibly damaging	Het
Atad5	T	A	11: 80,011,616 (GRCm39)		probably benign	Het
Atxn10	T	C	15: 85,249,483 (GRCm39)	L105P	probably damaging	Het
Cacna1s	T	C	1: 135,998,455 (GRCm39)	V161A	probably damaging	Het
Col6a3	T	C	1: 90,735,426 (GRCm39)	E741G	possibly damaging	Het
Cpne9	G	A	6: 113,271,654 (GRCm39)	G338E	probably damaging	Het
Cyp3a13	G	A	5: 137,897,124 (GRCm39)	P397S	probably damaging	Het
Dbn1	C	T	13: 55,622,729 (GRCm39)	E585K	probably damaging	Het
Draxin	A	G	4: 148,200,429 (GRCm39)	L7P	probably benign	Het
Exosc7	T	A	9: 122,960,025 (GRCm39)		probably benign	Het
Far2	A	G	6: 148,058,968 (GRCm39)	E218G	probably damaging	Het
Ggps1	A	C	13: 14,228,462 (GRCm39)	N240K	possibly damaging	Het
Kcnip1	T	C	11: 33,601,529 (GRCm39)		probably benign	Het
Kcnv2	A	T	19: 27,301,424 (GRCm39)	Y425F	probably benign	Het
Kdelr2	T	A	5: 143,398,272 (GRCm39)	F40I	probably damaging	Het
Kdm1b	C	T	13: 47,207,195 (GRCm39)	P173L	probably benign	Het
Kif20b	G	A	19: 34,925,132 (GRCm39)		probably benign	Het
Klhl9	A	T	4: 88,638,691 (GRCm39)	Y517N	possibly damaging	Het
Lgals3bp	A	G	11: 118,284,347 (GRCm39)	S411P	probably damaging	Het
Lmo3	G	A	6: 138,354,309 (GRCm39)	T85M	probably damaging	Het
Lvrn	C	A	18: 46,997,820 (GRCm39)	T256N	probably damaging	Het
Malt1	T	C	18: 65,595,986 (GRCm39)		probably null	Het
Mgst1	A	G	6: 138,133,155 (GRCm39)	I157V	possibly damaging	Het
Mob3a	A	T	10: 80,525,819 (GRCm39)	V164E	possibly damaging	Het
Mprip	T	A	11: 59,587,864 (GRCm39)		probably benign	Het
Mst1	A	G	9: 107,959,712 (GRCm39)	N276S	probably benign	Het
Or5an1b	A	T	19: 12,299,680 (GRCm39)	C170*	probably null	Het
P3h2	T	A	16: 25,789,681 (GRCm39)	I529F	possibly damaging	Het
Pikfyve	T	A	1: 65,285,490 (GRCm39)	S865T	probably benign	Het
Rcbtb2	G	A	14: 73,415,909 (GRCm39)	R474Q	probably benign	Het
Rpl27	G	A	11: 101,334,321 (GRCm39)		probably benign	Het
Rtp1	G	A	16: 23,250,210 (GRCm39)	E192K	probably damaging	Het
Sgk2	T	C	2: 162,837,592 (GRCm39)		probably benign	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc49a4	T	C	16: 35,570,884 (GRCm39)	D140G	probably benign	Het
Spdl1	T	C	11: 34,714,347 (GRCm39)	N114S	possibly damaging	Het
Syne2	C	T	12: 76,110,936 (GRCm39)	R5756W	probably damaging	Het
Tor1aip1	T	C	1: 155,882,927 (GRCm39)	E307G	probably damaging	Het
Tpd52	T	C	3: 9,018,749 (GRCm39)	T44A	probably benign	Het
Trim67	A	T	8: 125,549,966 (GRCm39)	Y532F	probably damaging	Het
Ttll9	C	A	2: 152,842,018 (GRCm39)		probably null	Het
Ush2a	T	C	1: 188,680,571 (GRCm39)		probably benign	Het
Vcam1	T	C	3: 115,909,709 (GRCm39)	I539M	probably benign	Het
Vmn1r19	T	A	6: 57,381,600 (GRCm39)	M51K	possibly damaging	Het
Vmn2r61	T	A	7: 41,949,941 (GRCm39)	M787K	probably damaging	Het
Xdh	T	A	17: 74,213,096 (GRCm39)		probably benign	Het
Zfp109	A	T	7: 23,933,895 (GRCm39)	V8E	probably damaging	Het
Zfp595	G	A	13: 67,464,577 (GRCm39)	A562V	possibly damaging	Het
Zfp759	A	G	13: 67,288,356 (GRCm39)	T636A	probably benign	Het

Other mutations in 9130023H24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01294:9130023H24Rik	APN	7	127,836,291 (GRCm39)	missense	probably benign	0.01
IGL01865:9130023H24Rik	APN	7	127,836,107 (GRCm39)	missense	probably damaging	1.00
R1376:9130023H24Rik	UTSW	7	127,836,182 (GRCm39)	missense	probably benign	0.17
R1376:9130023H24Rik	UTSW	7	127,836,182 (GRCm39)	missense	probably benign	0.17
R2373:9130023H24Rik	UTSW	7	127,836,487 (GRCm39)	missense	probably benign	0.13
R4751:9130023H24Rik	UTSW	7	127,836,258 (GRCm39)	missense	probably benign	0.00
R5543:9130023H24Rik	UTSW	7	127,836,353 (GRCm39)	missense	probably benign
R5577:9130023H24Rik	UTSW	7	127,835,826 (GRCm39)	missense	probably damaging	1.00
R5726:9130023H24Rik	UTSW	7	127,835,832 (GRCm39)	missense	probably damaging	1.00
R5906:9130023H24Rik	UTSW	7	127,835,664 (GRCm39)	missense	probably benign	0.01
R6800:9130023H24Rik	UTSW	7	127,836,742 (GRCm39)	start gained	probably benign
R7040:9130023H24Rik	UTSW	7	127,835,897 (GRCm39)	missense	possibly damaging	0.64
R7529:9130023H24Rik	UTSW	7	127,836,336 (GRCm39)	nonsense	probably null
R7672:9130023H24Rik	UTSW	7	127,836,191 (GRCm39)	missense	probably damaging	1.00
R8863:9130023H24Rik	UTSW	7	127,836,123 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TCACCACTGTGAACTCGGTAATGC -3'
(R):5'- AACTTGCGGCTCCAGAAGTGAC -3'

Sequencing Primer
(F):5'- GTGAACTCGGTAATGCTTAACCAG -3'
(R):5'- CTAGATGGGGCTAAGCTGC -3'

Posted On

2013-04-16