Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00690:Crlf3'

9894

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Crlf3

Ensembl Gene

ENSMUSG00000017561

Gene Name

cytokine receptor-like factor 3

Synonyms

Creme9, cytor4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00690

Quality Score

Status

Chromosome

Chromosomal Location

79937319-79971817 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79950163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 156 (S156P)

Ref Sequence

ENSEMBL: ENSMUSP00000099523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061283] [ENSMUST00000103233] [ENSMUST00000177825] [ENSMUST00000178893] [ENSMUST00000179855]

AlphaFold

Q9Z2L7

Predicted Effect

probably damaging
Transcript: ENSMUST00000061283
AA Change: S156P

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

SMART Domains

Protein: ENSMUSP00000060028
Gene: ENSMUSG00000017561
AA Change: S156P

Domain	Start	End	E-Value	Type
coiled coil region	10	43	N/A	INTRINSIC
low complexity region	112	124	N/A	INTRINSIC
FN3	179	260	1.66e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000092858

Predicted Effect

probably damaging
Transcript: ENSMUST00000103233
AA Change: S156P

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

SMART Domains

Protein: ENSMUSP00000099523
Gene: ENSMUSG00000017561
AA Change: S156P

Domain	Start	End	E-Value	Type
coiled coil region	10	43	N/A	INTRINSIC
low complexity region	112	124	N/A	INTRINSIC
FN3	179	260	1.66e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147164

Predicted Effect

probably benign
Transcript: ENSMUST00000177825

SMART Domains

Protein: ENSMUSP00000136473
Gene: ENSMUSG00000017561

Domain	Start	End	E-Value	Type
coiled coil region	10	43	N/A	INTRINSIC
low complexity region	112	124	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178280

Predicted Effect

probably benign
Transcript: ENSMUST00000178893

SMART Domains

Protein: ENSMUSP00000137371
Gene: ENSMUSG00000017561

Domain	Start	End	E-Value	Type
coiled coil region	10	39	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179855

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a cytokine receptor-like factor that contains a fibronectin type 3 domain. The encoded protein may act as a negative regulator of the cell cycle. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased lean body mass, decreased platelet cell number and increased circulating fructosamine level. [provided by MGI curators]

Allele List at MGI

All alleles(39) : Targeted, other(2) Gene trapped(37)

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	C	1: 120,078,336 (GRCm39)		probably benign	Het
Adcy8	A	G	15: 64,571,151 (GRCm39)	V1164A	probably damaging	Het
Arhgef9	C	T	X: 94,125,285 (GRCm39)	C177Y	probably damaging	Het
Ascc3	C	T	10: 50,576,039 (GRCm39)	Q765*	probably null	Het
Brwd1	A	G	16: 95,818,786 (GRCm39)	Y1349H	probably damaging	Het
Cep57	A	T	9: 13,730,312 (GRCm39)	N48K	probably damaging	Het
Edn2	G	A	4: 120,020,649 (GRCm39)	R92H	probably damaging	Het
Eml2	T	A	7: 18,940,068 (GRCm39)	W647R	probably damaging	Het
Gcm1	A	T	9: 77,972,298 (GRCm39)	D413V	probably benign	Het
Med1	A	C	11: 98,060,226 (GRCm39)	D234E	possibly damaging	Het
Nfatc4	T	C	14: 56,070,019 (GRCm39)	F729S	probably damaging	Het
Pcbd1	T	C	10: 60,928,469 (GRCm39)		probably benign	Het
Pramel28	G	T	4: 143,692,392 (GRCm39)	P203Q	possibly damaging	Het
Serpina3c	A	T	12: 104,118,198 (GRCm39)	L47M	possibly damaging	Het
Strn3	T	C	12: 51,657,221 (GRCm39)	I631V	possibly damaging	Het
Trp53bp1	A	G	2: 121,066,476 (GRCm39)	I750T	probably damaging	Het

Other mutations in Crlf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Crlf3	APN	11	79,938,501 (GRCm39)	missense	probably benign	0.03
IGL01520:Crlf3	APN	11	79,950,972 (GRCm39)	missense	probably benign	0.01
IGL01998:Crlf3	APN	11	79,948,845 (GRCm39)	unclassified	probably benign
IGL02622:Crlf3	APN	11	79,950,150 (GRCm39)	missense	probably damaging	1.00
IGL02748:Crlf3	APN	11	79,950,145 (GRCm39)	missense	probably damaging	0.98
R0064:Crlf3	UTSW	11	79,948,728 (GRCm39)	missense	possibly damaging	0.81
R0064:Crlf3	UTSW	11	79,948,728 (GRCm39)	missense	possibly damaging	0.81
R0076:Crlf3	UTSW	11	79,947,427 (GRCm39)	unclassified	probably benign
R0583:Crlf3	UTSW	11	79,950,107 (GRCm39)	missense	probably damaging	0.99
R1753:Crlf3	UTSW	11	79,948,698 (GRCm39)	missense	probably damaging	1.00
R2125:Crlf3	UTSW	11	79,950,081 (GRCm39)	missense	probably benign	0.21
R2571:Crlf3	UTSW	11	79,938,339 (GRCm39)	missense	probably benign	0.11
R5894:Crlf3	UTSW	11	79,948,678 (GRCm39)	missense	probably damaging	1.00
R6086:Crlf3	UTSW	11	79,939,436 (GRCm39)	missense	possibly damaging	0.81
R7214:Crlf3	UTSW	11	79,955,216 (GRCm39)	missense	possibly damaging	0.92
R7238:Crlf3	UTSW	11	79,947,351 (GRCm39)	missense	possibly damaging	0.94
R7511:Crlf3	UTSW	11	79,954,812 (GRCm39)	splice site	probably null
R8745:Crlf3	UTSW	11	79,955,100 (GRCm39)	missense	probably damaging	1.00
R8872:Crlf3	UTSW	11	79,938,440 (GRCm39)	missense
R9297:Crlf3	UTSW	11	79,950,031 (GRCm39)	missense	probably damaging	1.00
X0064:Crlf3	UTSW	11	79,955,013 (GRCm39)	splice site	probably null

Posted On

2012-12-06