Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03249:2410002F23Rik'

414516

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

2410002F23Rik

Ensembl Gene

ENSMUSG00000045411

Gene Name

RIKEN cDNA 2410002F23 gene

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL03249

Quality Score

Status

Chromosome

Chromosomal Location

43896146-43901743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43900149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 18 (Y18C)

Ref Sequence

ENSEMBL: ENSMUSP00000140017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012921] [ENSMUST00000055858] [ENSMUST00000071296] [ENSMUST00000084937] [ENSMUST00000107945] [ENSMUST00000107948] [ENSMUST00000107949] [ENSMUST00000145653] [ENSMUST00000107950] [ENSMUST00000146155] [ENSMUST00000137702] [ENSMUST00000118216] [ENSMUST00000187524] [ENSMUST00000188111] [ENSMUST00000185481] [ENSMUST00000188382] [ENSMUST00000186606] [ENSMUST00000191537]

AlphaFold

Q3TE80

Predicted Effect

probably benign
Transcript: ENSMUST00000012921

SMART Domains

Protein: ENSMUSP00000012921
Gene: ENSMUSG00000012777

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:His_Phos_2	30	338	3.2e-53	PFAM
transmembrane domain	391	413	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000055858
AA Change: Y18C

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103583
Gene: ENSMUSG00000045411
AA Change: Y18C

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071296
AA Change: Y18C

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000071265
Gene: ENSMUSG00000045411
AA Change: Y18C

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084937
AA Change: Y18C

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000095894
Gene: ENSMUSG00000045411
AA Change: Y18C

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107945

SMART Domains

Protein: ENSMUSP00000103578
Gene: ENSMUSG00000012777

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:His_Phos_2	30	324	2.3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107948
AA Change: Y18C

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103581
Gene: ENSMUSG00000045411
AA Change: Y18C

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107949
AA Change: Y18C

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103582
Gene: ENSMUSG00000045411
AA Change: Y18C

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000145653
AA Change: Y18C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000107950
AA Change: Y18C

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103584
Gene: ENSMUSG00000045411
AA Change: Y18C

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146155
AA Change: Y18C

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000117318
Gene: ENSMUSG00000045411
AA Change: Y18C

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137702
AA Change: Y18C

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000119445
Gene: ENSMUSG00000045411
AA Change: Y18C

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138978

Predicted Effect

probably benign
Transcript: ENSMUST00000118216

SMART Domains

Protein: ENSMUSP00000112922
Gene: ENSMUSG00000012777

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:His_Phos_2	30	338	3.2e-53	PFAM
transmembrane domain	392	414	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000187524
AA Change: Y18C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140017
Gene: ENSMUSG00000045411
AA Change: Y18C

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188111
AA Change: Y18C

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000139694
Gene: ENSMUSG00000045411
AA Change: Y18C

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185481
AA Change: Y18C

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000139913
Gene: ENSMUSG00000045411
AA Change: Y18C

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188382
AA Change: Y18C

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140200
Gene: ENSMUSG00000045411
AA Change: Y18C

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188476

Predicted Effect

probably benign
Transcript: ENSMUST00000186606

SMART Domains

Protein: ENSMUSP00000139441
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	50	60	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191537

SMART Domains

Protein: ENSMUSP00000141077
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	50	60	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	G	14: 118,865,118 (GRCm39)		probably benign	Het
Acnat2	T	C	4: 49,381,787 (GRCm39)	K202E	probably benign	Het
Aoc1l3	A	T	6: 48,965,303 (GRCm39)	H437L	probably benign	Het
Arid2	A	T	15: 96,299,846 (GRCm39)	R1786S	probably damaging	Het
Atp2a1	C	T	7: 126,061,977 (GRCm39)	E40K	probably benign	Het
Cdc23	A	G	18: 34,777,069 (GRCm39)		probably benign	Het
Ctnnd2	A	G	15: 30,683,382 (GRCm39)	D461G	probably benign	Het
Galntl6	G	T	8: 58,230,210 (GRCm39)		probably benign	Het
Gcc2	T	A	10: 58,106,814 (GRCm39)	Y583*	probably null	Het
Or11g7	T	C	14: 50,690,668 (GRCm39)	V53A	probably damaging	Het
Plekhg2	C	A	7: 28,067,427 (GRCm39)	R281L	probably damaging	Het
Rbm27	A	G	18: 42,434,812 (GRCm39)	D292G	probably damaging	Het
Ryr3	A	T	2: 112,471,001 (GRCm39)	M4594K	probably benign	Het
Sec22a	T	C	16: 35,168,133 (GRCm39)	Y126C	probably damaging	Het
Svopl	T	C	6: 37,993,988 (GRCm39)	T348A	probably benign	Het
Tecta	T	C	9: 42,303,182 (GRCm39)	E150G	probably benign	Het
Ttc8	T	G	12: 98,910,080 (GRCm39)		probably benign	Het
Zfp51	T	A	17: 21,683,701 (GRCm39)	N105K	probably damaging	Het

Other mutations in 2410002F23Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1137:2410002F23Rik	UTSW	7	43,900,256 (GRCm39)	missense	probably benign	0.00
R1930:2410002F23Rik	UTSW	7	43,900,540 (GRCm39)	missense	probably damaging	0.99
R1966:2410002F23Rik	UTSW	7	43,900,650 (GRCm39)	missense	probably benign	0.26
R2109:2410002F23Rik	UTSW	7	43,900,435 (GRCm39)	missense	probably benign	0.20
R5580:2410002F23Rik	UTSW	7	43,900,664 (GRCm39)	missense	possibly damaging	0.66
R8050:2410002F23Rik	UTSW	7	43,900,677 (GRCm39)	missense	possibly damaging	0.95
R9295:2410002F23Rik	UTSW	7	43,900,116 (GRCm39)	missense	probably benign	0.00
R9553:2410002F23Rik	UTSW	7	43,900,334 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02