Mutagenetix > Incidental Mutation

Incidental Mutation 'R1376:9130023H24Rik'

186259

Institutional Source

Beutler Lab

Gene Symbol

9130023H24Rik

Ensembl Gene

ENSMUSG00000062944

Gene Name

RIKEN cDNA 9130023H24 gene

Synonyms

MMRRC Submission

039440-MU

Accession Numbers

Essential gene?

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

Stock #

R1376 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127833630-127837203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127836182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 137 (V137A)

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: V137A

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000077867
Gene: ENSMUSG00000062944
AA Change: V137A

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: 97.9%
10x: 94.9%
20x: 89.2%

Validation Efficiency

100% (29/29)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	A	T	11: 80,254,735 (GRCm39)	I362N	possibly damaging	Het
Adal	A	G	2: 120,983,011 (GRCm39)	D177G	probably damaging	Het
Cdcp2	G	T	4: 106,959,956 (GRCm39)	V124F	possibly damaging	Het
Ceacam3	T	C	7: 16,897,088 (GRCm39)	C685R	probably damaging	Het
Cep295	T	C	9: 15,252,164 (GRCm39)		probably benign	Het
Cfd	T	C	10: 79,727,986 (GRCm39)	I174T	possibly damaging	Het
Dapk2	C	G	9: 66,127,925 (GRCm39)	R68G	probably damaging	Het
Ehd1	C	T	19: 6,344,418 (GRCm39)	T226M	probably damaging	Het
Elp5	A	G	11: 69,865,916 (GRCm39)	V120A	probably benign	Het
Fzd1	G	A	5: 4,807,174 (GRCm39)	T136M	possibly damaging	Het
Galntl5	G	T	5: 25,391,286 (GRCm39)	V62F	probably benign	Het
Gm11787	A	G	4: 3,516,373 (GRCm39)		noncoding transcript	Het
Josd2	C	A	7: 44,120,539 (GRCm39)	P50H	probably damaging	Het
Lect2	T	A	13: 56,690,577 (GRCm39)	I133F	probably damaging	Het
Lifr	A	G	15: 7,214,245 (GRCm39)	T700A	probably benign	Het
Lpl	T	C	8: 69,340,250 (GRCm39)	W82R	probably damaging	Het
Man2a1	C	T	17: 64,979,038 (GRCm39)	R523C	possibly damaging	Het
Mast4	T	C	13: 102,872,916 (GRCm39)	K1959E	possibly damaging	Het
Minar1	T	C	9: 89,473,299 (GRCm39)	T871A	probably damaging	Het
Or10ag57	A	G	2: 87,218,162 (GRCm39)	M38V	probably benign	Het
Or10ag58	C	T	2: 87,264,903 (GRCm39)	S24L	possibly damaging	Het
Pde4dip	A	G	3: 97,650,533 (GRCm39)	V963A	probably damaging	Het
Pdgfd	A	G	9: 6,376,994 (GRCm39)	I357V	probably benign	Het
Pold1	T	C	7: 44,189,986 (GRCm39)	D400G	probably damaging	Het
Ppp1r12a	T	C	10: 108,034,779 (GRCm39)	I108T	probably damaging	Het
Rimbp2	G	C	5: 128,847,355 (GRCm39)	P931A	possibly damaging	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Homo
Sec24a	A	C	11: 51,591,740 (GRCm39)		probably benign	Het
Sf3b1	A	T	1: 55,058,424 (GRCm39)	V55E	probably damaging	Het
Sult2a2	T	C	7: 13,468,696 (GRCm39)	V54A	probably damaging	Het
Taok3	T	C	5: 117,404,026 (GRCm39)	Y734H	probably damaging	Het
Tasor	A	G	14: 27,151,338 (GRCm39)	K105E	probably benign	Het
Tuba3b	A	G	6: 145,564,500 (GRCm39)	E90G	possibly damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		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
R0319:9130023H24Rik	UTSW	7	127,836,362 (GRCm39)	missense	probably benign
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'- AACTTCGCCCAAAGCTGTCTCC -3'
(R):5'- CCTTTGTCAAGACCAGTGATCCTGC -3'

Sequencing Primer
(F):5'- TTGGAGCTAACCCTGAAAGTC -3'
(R):5'- CAGTCCCCAAAGCTTTCAAG -3'

Posted On

2014-05-09