Mutagenetix > Incidental Mutation

Incidental Mutation 'R1137:2410002F23Rik'

95168

Institutional Source

Beutler Lab

Gene Symbol

2410002F23Rik

Ensembl Gene

ENSMUSG00000045411

Gene Name

RIKEN cDNA 2410002F23 gene

Synonyms

MMRRC Submission

039210-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1137 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43896146-43901743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43900256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 54 (S54T)

Ref Sequence

ENSEMBL: ENSMUSP00000140200 (fasta)

Gene Model

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

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: S54T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103583
Gene: ENSMUSG00000045411
AA Change: S54T

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: S54T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000071265
Gene: ENSMUSG00000045411
AA Change: S54T

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: S54T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095894
Gene: ENSMUSG00000045411
AA Change: S54T

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: S54T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103581
Gene: ENSMUSG00000045411
AA Change: S54T

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: S54T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103582
Gene: ENSMUSG00000045411
AA Change: S54T

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: ENSMUST00000107950
AA Change: S54T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103584
Gene: ENSMUSG00000045411
AA Change: S54T

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: S54T

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

SMART Domains

Protein: ENSMUSP00000117318
Gene: ENSMUSG00000045411
AA Change: S54T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000137702
AA Change: S54T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119445
Gene: ENSMUSG00000045411
AA Change: S54T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116853

Predicted Effect

probably benign
Transcript: ENSMUST00000145653

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 benign
Transcript: ENSMUST00000187524
AA Change: S54T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140017
Gene: ENSMUSG00000045411
AA Change: S54T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000188382
AA Change: S54T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140200
Gene: ENSMUSG00000045411
AA Change: S54T

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: S54T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139913
Gene: ENSMUSG00000045411
AA Change: S54T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000188111
AA Change: S54T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139694
Gene: ENSMUSG00000045411
AA Change: S54T

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: ENSMUST00000191537

SMART Domains

Protein: ENSMUSP00000141077
Gene: ENSMUSG00000045411

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

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	A	G	4: 132,789,424 (GRCm39)	T222A	possibly damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Cep250	A	G	2: 155,832,760 (GRCm39)	K1561E	probably benign	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Clca4a	A	G	3: 144,676,446 (GRCm39)	V78A	probably damaging	Het
Clec4n	G	A	6: 123,223,526 (GRCm39)	M170I	possibly damaging	Het
Cp	G	T	3: 20,033,116 (GRCm39)	A648S	probably benign	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Dnah8	A	G	17: 31,074,910 (GRCm39)	D4543G	probably damaging	Het
Elp3	A	G	14: 65,785,370 (GRCm39)	V477A	probably damaging	Het
Exoc6b	A	G	6: 84,885,205 (GRCm39)	S245P	probably benign	Het
Fkbp9	G	T	6: 56,837,682 (GRCm39)	G312V	probably damaging	Het
Htr4	A	G	18: 62,570,624 (GRCm39)	I226M	probably damaging	Het
Impa2	G	A	18: 67,451,497 (GRCm39)	V264I	probably benign	Het
Kif20b	T	C	19: 34,914,486 (GRCm39)		probably null	Het
Kmt2c	C	A	5: 25,515,981 (GRCm39)	V2621F	possibly damaging	Het
Lif	A	G	11: 4,219,237 (GRCm39)	D172G	probably damaging	Het
Llgl1	C	A	11: 60,595,559 (GRCm39)	H82N	probably benign	Het
Lrwd1	T	C	5: 136,162,273 (GRCm39)	I162M	probably benign	Het
Mdn1	T	A	4: 32,694,511 (GRCm39)	I1078N	probably damaging	Het
Muc1	A	T	3: 89,137,745 (GRCm39)	T196S	probably benign	Het
Myh7b	T	C	2: 155,464,634 (GRCm39)	L657P	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Ppp1cb	T	C	5: 32,645,015 (GRCm39)	M55T	probably damaging	Het
Ppp1r9a	T	C	6: 5,159,697 (GRCm39)	M1078T	possibly damaging	Het
Rarg	T	C	15: 102,149,595 (GRCm39)	T125A	probably damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Slc5a7	G	A	17: 54,600,039 (GRCm39)	R125C	probably damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tigit	G	T	16: 43,469,485 (GRCm39)	T202N	probably benign	Het
Tmem132b	C	T	5: 125,860,606 (GRCm39)	A617V	possibly damaging	Het
Tpm1	T	C	9: 66,938,400 (GRCm39)		probably null	Het
Ubr3	A	G	2: 69,768,659 (GRCm39)		probably benign	Het
Vcan	T	A	13: 89,852,422 (GRCm39)	D846V	probably damaging	Het
Vmn1r16	T	G	6: 57,300,221 (GRCm39)	N134H	probably damaging	Het

Other mutations in 2410002F23Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03249:2410002F23Rik	APN	7	43,900,149 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- AGTGTAGCCCTTTGTCACCTACCAG -3'
(R):5'- TCAAAATGCAGGGAGGATTCCCAAC -3'

Sequencing Primer
(F):5'- GCGACAGCATTGCTTCTAGC -3'
(R):5'- GAGGATTCCCAACGCTGAC -3'

Posted On

2014-01-05