Mutagenetix > Incidental Mutation

Incidental Mutation 'R1376:5730455P16Rik'

186269

Institutional Source

Beutler Lab

Gene Symbol

5730455P16Rik

Ensembl Gene

ENSMUSG00000057181

Gene Name

RIKEN cDNA 5730455P16 gene

Synonyms

MMRRC Submission

039440-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.862) question?

Stock #

R1376 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80251318-80268860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80254735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 362 (I362N)

Ref Sequence

ENSEMBL: ENSMUSP00000135972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103225] [ENSMUST00000179332]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103225
AA Change: I362N

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099515
Gene: ENSMUSG00000057181
AA Change: I362N

Domain	Start	End	E-Value	Type
low complexity region	7	31	N/A	INTRINSIC
Pfam:Njmu-R1	38	390	1.5e-204	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149614

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179332
AA Change: I362N

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135972
Gene: ENSMUSG00000057181
AA Change: I362N

Domain	Start	End	E-Value	Type
low complexity region	7	31	N/A	INTRINSIC
Pfam:Njmu-R1	38	391	5.9e-231	PFAM

Meta Mutation Damage Score

0.1795

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
9130023H24Rik	A	G	7: 127,836,182 (GRCm39)	V137A	probably benign	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 5730455P16Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:5730455P16Rik	APN	11	80,267,638 (GRCm39)	missense	possibly damaging	0.90
IGL03096:5730455P16Rik	APN	11	80,265,005 (GRCm39)	missense	probably damaging	1.00
PIT4431001:5730455P16Rik	UTSW	11	80,254,750 (GRCm39)	missense	probably damaging	1.00
R0383:5730455P16Rik	UTSW	11	80,254,767 (GRCm39)	nonsense	probably null
R0635:5730455P16Rik	UTSW	11	80,264,891 (GRCm39)	splice site	probably benign
R1376:5730455P16Rik	UTSW	11	80,254,735 (GRCm39)	missense	possibly damaging	0.90
R1598:5730455P16Rik	UTSW	11	80,254,838 (GRCm39)	nonsense	probably null
R1953:5730455P16Rik	UTSW	11	80,268,772 (GRCm39)	missense	probably damaging	1.00
R3236:5730455P16Rik	UTSW	11	80,258,996 (GRCm39)	missense	probably damaging	1.00
R4056:5730455P16Rik	UTSW	11	80,266,329 (GRCm39)	splice site	probably benign
R4612:5730455P16Rik	UTSW	11	80,268,806 (GRCm39)	start codon destroyed	probably null	0.90
R4777:5730455P16Rik	UTSW	11	80,265,041 (GRCm39)	missense	probably damaging	1.00
R4820:5730455P16Rik	UTSW	11	80,266,346 (GRCm39)	missense	possibly damaging	0.63
R4847:5730455P16Rik	UTSW	11	80,264,940 (GRCm39)	missense	probably damaging	1.00
R5489:5730455P16Rik	UTSW	11	80,268,778 (GRCm39)	start codon destroyed	probably null
R7125:5730455P16Rik	UTSW	11	80,255,751 (GRCm39)	missense	probably damaging	0.97
R8049:5730455P16Rik	UTSW	11	80,268,798 (GRCm39)	missense	possibly damaging	0.86
R9600:5730455P16Rik	UTSW	11	80,261,197 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGTCATCTTAGGGCAGTGCAATC -3'
(R):5'- GCCGACATTATCAGTGTCCGATGAG -3'

Sequencing Primer
(F):5'- CTTAGGGCAGTGCAATCCTATAAAC -3'
(R):5'- AGCTAGAGACGGGGTATTTTTCAAG -3'

Posted On

2014-05-09