Mutagenetix > Incidental Mutations

Incidental Mutation 'R5543:9130023H24Rik'

436102

Institutional Source

Beutler Lab

Gene Symbol

9130023H24Rik

Ensembl Gene

ENSMUSG00000062944

Gene Name

RIKEN cDNA 9130023H24 gene

Synonyms

MMRRC Submission

043101-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R5543 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128234458-128238031 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 128237181 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 80 (S80I)

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: S80I

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

SMART Domains

Protein: ENSMUSP00000077867
Gene: ENSMUSG00000062944
AA Change: S80I

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,982,645		probably null	Het
Abcc6	A	G	7: 45,989,536		probably null	Het
Acvr1	A	G	2: 58,463,145	S268P	probably damaging	Het
Apod	T	C	16: 31,303,533		probably null	Het
Atp5o	T	C	16: 91,926,530	I58V	probably benign	Het
AU040320	C	T	4: 126,841,224	T777M	probably damaging	Het
BC067074	C	A	13: 113,320,873	T1151K	probably damaging	Het
Ccne2	A	T	4: 11,194,026	N89I	probably benign	Het
Dnah7a	A	G	1: 53,504,069	V2314A	probably damaging	Het
Dopey2	T	C	16: 93,798,920	S1881P	probably damaging	Het
E4f1	A	G	17: 24,447,362	V24A	possibly damaging	Het
Esrrg	A	T	1: 188,150,254	D236V	probably damaging	Het
Fam240b	T	A	13: 64,485,922	I27F	possibly damaging	Het
Fat1	T	A	8: 45,023,479	I1854N	probably damaging	Het
Fchsd2	T	C	7: 101,271,699	Y480H	probably damaging	Het
Fras1	A	G	5: 96,528,535	N47S	probably benign	Het
Gabrr3	T	C	16: 59,433,507	S196P	probably damaging	Het
Gbp8	T	A	5: 105,017,830	D319V	possibly damaging	Het
Hrh3	G	T	2: 180,103,970	A61E	probably damaging	Het
Idua	T	C	5: 108,670,229	I89T	probably benign	Het
Ifitm3	T	A	7: 141,009,817	I108F	unknown	Het
Izumo4	T	C	10: 80,702,834	F40S	probably damaging	Het
Kifc2	A	G	15: 76,667,042	R679G	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Ldha	A	T	7: 46,850,890	I171F	possibly damaging	Het
Lrfn4	T	C	19: 4,612,163	S609G	probably benign	Het
Mmp15	T	C	8: 95,368,101	F201S	possibly damaging	Het
Myof	C	T	19: 37,981,330	V295I	probably benign	Het
Olfr1024	G	T	2: 85,904,328	A242D	probably damaging	Het
Olfr30	T	A	11: 58,455,167	M261L	probably damaging	Het
Olfr354	C	T	2: 36,907,357	T137I	possibly damaging	Het
Parp14	T	C	16: 35,834,767	D1778G	probably benign	Het
Pcnt	A	T	10: 76,412,052	D969E	probably benign	Het
Pibf1	A	T	14: 99,112,992	N192I	probably benign	Het
Pitpnm3	A	G	11: 72,056,197	F792S	probably damaging	Het
Pkd2	T	A	5: 104,489,333	I604N	probably damaging	Het
Pla2g15	T	C	8: 106,161,143	Y188H	probably damaging	Het
Plxnc1	G	T	10: 94,864,774	D643E	probably benign	Het
Prrc2c	G	A	1: 162,673,511	P1241L	probably damaging	Het
Ptprd	T	C	4: 76,059,753	E173G	probably damaging	Het
Shank3	T	C	15: 89,532,354	V232A	probably damaging	Het
Shbg	A	G	11: 69,616,738	I171T	probably damaging	Het
Slc22a14	A	T	9: 119,173,608	F404L	probably benign	Het
Slc37a3	C	A	6: 39,355,026	G158C	probably damaging	Het
Slfn9	C	A	11: 82,982,381	L565F	probably damaging	Het
Tex43	G	A	18: 56,594,688		probably benign	Het
Trank1	T	A	9: 111,366,112	M1068K	probably damaging	Het
Trbv15	A	T	6: 41,141,253	I15L	probably benign	Het
Ttn	C	T	2: 76,739,574	V26992M	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ugt2b34	T	A	5: 86,906,701	I74F	probably damaging	Het
Vamp3	A	G	4: 151,051,020	L47P	probably damaging	Het
Zfp143	T	A	7: 110,083,315	C363*	probably null	Het
Zfp438	T	C	18: 5,213,761	E399G	probably damaging	Het

Other mutations in 9130023H24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01294:9130023H24Rik	APN	7	128237119	missense	probably benign	0.01
IGL01865:9130023H24Rik	APN	7	128236935	missense	probably damaging	1.00
R0319:9130023H24Rik	UTSW	7	128237190	missense	probably benign
R1376:9130023H24Rik	UTSW	7	128237010	missense	probably benign	0.17
R1376:9130023H24Rik	UTSW	7	128237010	missense	probably benign	0.17
R2373:9130023H24Rik	UTSW	7	128237315	missense	probably benign	0.13
R4751:9130023H24Rik	UTSW	7	128237086	missense	probably benign	0.00
R5577:9130023H24Rik	UTSW	7	128236654	missense	probably damaging	1.00
R5726:9130023H24Rik	UTSW	7	128236660	missense	probably damaging	1.00
R5906:9130023H24Rik	UTSW	7	128236492	missense	probably benign	0.01
R6800:9130023H24Rik	UTSW	7	128237570	start gained	probably benign
R7040:9130023H24Rik	UTSW	7	128236725	missense	possibly damaging	0.64
R7529:9130023H24Rik	UTSW	7	128237164	nonsense	probably null
R7672:9130023H24Rik	UTSW	7	128237019	missense	probably damaging	1.00
R8863:9130023H24Rik	UTSW	7	128236951	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- AAGCAACGGCCACATTCTGG -3'
(R):5'- TGGAGAACCGGACGTCAAAATTC -3'

Sequencing Primer
(F):5'- ACCACTGTGAACTCGGTAATG -3'
(R):5'- GACGTCAAAATTCCCGGGAGC -3'

Posted On

2016-10-24