Mutagenetix > Incidental Mutation

Incidental Mutation 'R7125:5730455P16Rik'

552278

Institutional Source

Beutler Lab

Gene Symbol

5730455P16Rik

Ensembl Gene

ENSMUSG00000057181

Gene Name

RIKEN cDNA 5730455P16 gene

Synonyms

MMRRC Submission

045327-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.833) question?

Stock #

R7125 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80251318-80268860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80255751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 296 (C296S)

Ref Sequence

ENSEMBL: ENSMUSP00000099515 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000103225
AA Change: C296S

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099515
Gene: ENSMUSG00000057181
AA Change: C296S

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

probably damaging
Transcript: ENSMUST00000179332
AA Change: C296S

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135972
Gene: ENSMUSG00000057181
AA Change: C296S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	T	C	4: 126,264,145 (GRCm39)	I354V	probably null	Het
Aldh1l1	G	A	6: 90,553,761 (GRCm39)		probably null	Het
Ankrd49	TAA	TA	9: 14,693,836 (GRCm39)		probably null	Het
B3gnt7	A	G	1: 86,233,099 (GRCm39)	Y115C	probably damaging	Het
Cacna1h	A	T	17: 25,602,510 (GRCm39)	M1506K	probably damaging	Het
Cars1	T	C	7: 143,138,510 (GRCm39)	T226A	probably benign	Het
Ccdc28b	T	A	4: 129,514,885 (GRCm39)	T75S	probably benign	Het
Cdc42bpg	A	G	19: 6,372,321 (GRCm39)	I1436V	probably damaging	Het
Cep152	A	T	2: 125,408,593 (GRCm39)	Y1320*	probably null	Het
Cntnap2	A	T	6: 46,965,580 (GRCm39)	Y797F	probably benign	Het
Coq8a	T	A	1: 179,996,366 (GRCm39)	N490I	probably damaging	Het
Csmd2	T	C	4: 128,389,955 (GRCm39)	L2230P		Het
Cyp4a14	A	T	4: 115,348,358 (GRCm39)	I373N	probably damaging	Het
Ddx1	A	G	12: 13,293,864 (GRCm39)	S86P	probably benign	Het
Dennd3	A	T	15: 73,405,140 (GRCm39)	I298F	possibly damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dnah2	T	C	11: 69,327,008 (GRCm39)	T3533A	probably damaging	Het
Fam53b	T	C	7: 132,373,357 (GRCm39)	H27R	probably damaging	Het
Firrm	T	C	1: 163,789,631 (GRCm39)	T635A	probably benign	Het
Fyb1	G	A	15: 6,674,337 (GRCm39)	E658K	possibly damaging	Het
Gapvd1	T	C	2: 34,585,612 (GRCm39)	S996G	probably benign	Het
Gm47959	G	A	1: 82,978,503 (GRCm39)	G57S	unknown	Het
Golgb1	T	A	16: 36,738,325 (GRCm39)	H2262Q	possibly damaging	Het
Gpam	T	C	19: 55,064,767 (GRCm39)	T646A	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Hexd	C	T	11: 121,095,496 (GRCm39)		probably benign	Het
Micu2	A	T	14: 58,209,238 (GRCm39)	Y73*	probably null	Het
N4bp2l2	T	C	5: 150,573,894 (GRCm39)		probably null	Het
Or11h7	T	C	14: 50,891,041 (GRCm39)	C116R	possibly damaging	Het
Or1e31	T	C	11: 73,689,990 (GRCm39)	M198V	probably benign	Het
Or1m1	A	T	9: 18,666,174 (GRCm39)	Y252*	probably null	Het
Or51t4	T	C	7: 102,598,386 (GRCm39)	V238A	probably damaging	Het
Or5b112	A	T	19: 13,319,103 (GRCm39)		probably null	Het
P3r3urf	A	G	4: 116,030,667 (GRCm39)	M24V	probably benign	Het
Prkca	A	G	11: 107,874,848 (GRCm39)	Y365H	probably damaging	Het
Ptpre	C	T	7: 135,255,744 (GRCm39)	R155*	probably null	Het
Ryr2	T	A	13: 11,684,873 (GRCm39)	N3023Y	probably damaging	Het
S100a7a	A	G	3: 90,562,822 (GRCm39)	D3G	probably benign	Het
Scn2a	T	C	2: 65,594,277 (GRCm39)	F1709L	probably damaging	Het
Slc15a2	T	C	16: 36,602,660 (GRCm39)	E67G	probably damaging	Het
Slc25a22	A	G	7: 141,011,655 (GRCm39)	L195P	probably damaging	Het
Sp140	TTTTTTTTTTTTT	TTTTTTTTTTTTTTTTTT	1: 85,572,290 (GRCm39)		probably benign	Het
Stim1	T	A	7: 102,084,741 (GRCm39)	H564Q	possibly damaging	Het
Sulf2	C	T	2: 165,917,448 (GRCm39)	W855*	probably null	Het
Tenm3	T	C	8: 49,127,588 (GRCm39)	N30S	probably benign	Het
Trim59	T	C	3: 68,944,197 (GRCm39)	D381G	probably benign	Het
Ttc21b	T	C	2: 66,066,670 (GRCm39)	T328A	probably benign	Het
Ttc6	C	G	12: 57,623,125 (GRCm39)	Q175E	probably benign	Het
Vmn2r44	T	C	7: 8,370,941 (GRCm39)	I702V	probably damaging	Het
Zfp768	A	T	7: 126,943,959 (GRCm39)	F59L	probably damaging	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
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
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'- CTCCTGTGTTCTGAGCTCAG -3'
(R):5'- GGCATATCCAATACACATCTGC -3'

Sequencing Primer
(F):5'- GCTCAGAGGATGCCCCATTTAAAG -3'
(R):5'- ATACACATCTGCTCTCCCAGGG -3'

Posted On

2019-05-15