Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02454:4930435E12Rik'

293764

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930435E12Rik

Ensembl Gene

ENSMUSG00000022798

Gene Name

RIKEN cDNA 4930435E12 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL02454

Quality Score

Status

Chromosome

Chromosomal Location

38812206-38828749 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38827947 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 267 (T267S)

Ref Sequence

ENSEMBL: ENSMUSP00000113120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122078]

AlphaFold

A6X8Z9

Predicted Effect

probably benign
Transcript: ENSMUST00000122078
AA Change: T267S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113120
Gene: ENSMUSG00000022798
AA Change: T267S

Domain	Start	End	E-Value	Type
low complexity region	86	97	N/A	INTRINSIC
low complexity region	244	254	N/A	INTRINSIC
low complexity region	307	317	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209595

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amz2	T	G	11: 109,434,061		probably benign	Het
Atp13a5	A	G	16: 29,232,808	F1104S	probably benign	Het
Cacna1c	T	C	6: 118,602,180	N1610S	probably damaging	Het
Ccnl1	A	T	3: 65,956,897	D122E	probably damaging	Het
Crtc2	G	A	3: 90,259,167	G65S	probably benign	Het
Dnah17	T	C	11: 118,080,767	T2160A	probably damaging	Het
Fads3	T	G	19: 10,055,119	L278R	probably damaging	Het
Foxp4	A	T	17: 47,875,582	L424*	probably null	Het
Gm10392	A	T	11: 77,518,390	E310V	probably damaging	Het
Gm11554	T	A	11: 99,803,989	S133C	unknown	Het
Hacd2	T	A	16: 35,106,391	F253L	probably benign	Het
Il3ra	T	C	14: 14,351,113	S212P	probably benign	Het
Mdn1	T	C	4: 32,694,674		probably null	Het
Mtfr1l	A	T	4: 134,530,385	L111H	probably damaging	Het
Mysm1	A	G	4: 94,970,504		probably benign	Het
Olfr418	C	A	1: 173,270,940	S255Y	probably damaging	Het
Olfr646	T	C	7: 104,106,612	V111A	probably damaging	Het
Plec	A	T	15: 76,191,031	F357I	probably damaging	Het
Polr3a	C	A	14: 24,475,823	V450L	possibly damaging	Het
Prkd1	T	C	12: 50,364,673	K764R	probably benign	Het
Pxn	C	T	5: 115,552,266	P256S	probably damaging	Het
Rbm25	T	A	12: 83,660,322	F247L	probably benign	Het
Rfx4	C	T	10: 84,840,106	T62M	possibly damaging	Het
Rps4l-ps	T	C	7: 114,927,264		noncoding transcript	Het
Scn11a	A	G	9: 119,758,544	I1378T	probably benign	Het
Siglecg	T	C	7: 43,408,895	S69P	probably benign	Het
Stox1	T	C	10: 62,667,826	Y61C	probably damaging	Het
Tnks	C	T	8: 34,831,728		probably benign	Het
Tpr	A	G	1: 150,431,192	S1587G	probably benign	Het
Trappc6b	A	G	12: 59,043,647	*97Q	probably null	Het
Usf3	T	C	16: 44,217,182	V675A	probably damaging	Het
Wdr7	C	T	18: 63,796,228	T1045M	probably benign	Het
Zc3h11a	A	T	1: 133,624,516	C618S	probably benign	Het
Zfp398	T	C	6: 47,840,367	V47A	possibly damaging	Het
Zzz3	A	G	3: 152,428,574	N423S	probably benign	Het

Other mutations in 4930435E12Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01979:4930435E12Rik	APN	16	38827893	missense	possibly damaging	0.61
IGL01998:4930435E12Rik	APN	16	38828224	missense	probably benign	0.00
IGL03216:4930435E12Rik	APN	16	38828690	missense	possibly damaging	0.59
IGL03325:4930435E12Rik	APN	16	38827993	missense	probably damaging	1.00
IGL03397:4930435E12Rik	APN	16	38828693	missense	probably damaging	1.00
R7924_4930435E12Rik_239	UTSW	16	38812464	nonsense	probably null
BB001:4930435E12Rik	UTSW	16	38812464	nonsense	probably null
BB011:4930435E12Rik	UTSW	16	38812464	nonsense	probably null
R0242:4930435E12Rik	UTSW	16	38824567	splice site	probably benign
R0446:4930435E12Rik	UTSW	16	38828702	missense	probably benign	0.01
R0607:4930435E12Rik	UTSW	16	38828364	missense	probably benign	0.02
R1918:4930435E12Rik	UTSW	16	38828088	missense	possibly damaging	0.56
R1953:4930435E12Rik	UTSW	16	38827913	missense	possibly damaging	0.78
R3417:4930435E12Rik	UTSW	16	38828740	missense	probably benign	0.17
R4601:4930435E12Rik	UTSW	16	38828018	missense	probably benign	0.14
R4860:4930435E12Rik	UTSW	16	38828145	missense	probably damaging	0.97
R4860:4930435E12Rik	UTSW	16	38828145	missense	probably damaging	0.97
R5551:4930435E12Rik	UTSW	16	38827974	missense	probably benign	0.28
R7568:4930435E12Rik	UTSW	16	38828447	missense	possibly damaging	0.95
R7623:4930435E12Rik	UTSW	16	38828091	missense	possibly damaging	0.87
R7643:4930435E12Rik	UTSW	16	38827863	missense	probably benign	0.15
R7669:4930435E12Rik	UTSW	16	38828091	missense	possibly damaging	0.87
R7670:4930435E12Rik	UTSW	16	38828091	missense	possibly damaging	0.87
R7671:4930435E12Rik	UTSW	16	38828091	missense	possibly damaging	0.87
R7924:4930435E12Rik	UTSW	16	38812464	nonsense	probably null
R9385:4930435E12Rik	UTSW	16	38828045	missense	probably benign	0.11
RF013:4930435E12Rik	UTSW	16	38828001	missense	probably benign	0.37

Posted On

2015-04-16