Mutagenetix > Incidental Mutation

Incidental Mutation 'R3731:Crlf1'

270989

Institutional Source

Beutler Lab

Gene Symbol

Crlf1

Ensembl Gene

ENSMUSG00000007888

Gene Name

cytokine receptor-like factor 1

Synonyms

cytokine receptor like molecule 3, CRLM3, CLF-1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.820) question?

Stock #

R3731 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70945808-70956731 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70952092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 95 (T95A)

Ref Sequence

ENSEMBL: ENSMUSP00000119545 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008032] [ENSMUST00000075175] [ENSMUST00000132648] [ENSMUST00000136913]

AlphaFold

Q9JM58

Predicted Effect

probably benign
Transcript: ENSMUST00000008032
AA Change: T217A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000008032
Gene: ENSMUSG00000007888
AA Change: T217A

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
Pfam:Lep_receptor_Ig	41	127	5.7e-8	PFAM
FN3	138	223	2.11e0	SMART
FN3	238	323	1.5e-5	SMART
low complexity region	345	361	N/A	INTRINSIC
low complexity region	415	425	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000075175

SMART Domains

Protein: ENSMUSP00000074670
Gene: ENSMUSG00000058833

Domain	Start	End	E-Value	Type
Pfam:DNA_repr_REX1B	29	128	1.5e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127983

SMART Domains

Protein: ENSMUSP00000115614
Gene: ENSMUSG00000007888

Domain	Start	End	E-Value	Type
Blast:FN3	2	28	2e-12	BLAST
SCOP:d1eerb2	2	46	1e-8	SMART
low complexity region	50	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132648
AA Change: T95A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000119545
Gene: ENSMUSG00000007888
AA Change: T95A

Domain	Start	End	E-Value	Type
FN3	16	101	2.11e0	SMART
low complexity region	104	122	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135773

Predicted Effect

probably benign
Transcript: ENSMUST00000136913

SMART Domains

Protein: ENSMUSP00000120446
Gene: ENSMUSG00000058833

Domain	Start	End	E-Value	Type
Pfam:DNA_repr_REX1B	29	128	4.2e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143598

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the cytokine type I receptor family. The encoded protein functions as a cytokine receptor subunit and may be involved in immune system regulation and fetal development. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a targeted mutation fail to suckle effectively and do not survive beyond 24 hrs after birth. Newborns exhibit reduced numbers of hematopoietic progenitor cells as well as a significant reduction in the number of motoneurons in the lumbar spinal cord and facial nucleus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	T	A	16: 14,427,485 (GRCm39)		probably null	Het
Abcc5	A	T	16: 20,217,684 (GRCm39)	Y5*	probably null	Het
Acbd6	T	A	1: 155,434,471 (GRCm39)	S30T	probably benign	Het
Adar	T	C	3: 89,653,962 (GRCm39)	I325T	probably damaging	Het
Akap13	T	C	7: 75,261,125 (GRCm39)	S92P	probably benign	Het
Atp1a4	A	T	1: 172,061,528 (GRCm39)	V771E	probably damaging	Het
Cfh	A	G	1: 140,047,708 (GRCm39)	S492P	possibly damaging	Het
Dennd2d	T	G	3: 106,407,271 (GRCm39)	F441V	probably damaging	Het
Dhx33	T	C	11: 70,879,978 (GRCm39)	D344G	probably benign	Het
Disp3	A	G	4: 148,337,284 (GRCm39)	S844P	probably benign	Het
Dock2	T	C	11: 34,599,722 (GRCm39)	K286E	probably damaging	Het
Fam228a	T	C	12: 4,768,671 (GRCm39)	E203G	probably benign	Het
Fbxo38	GTGCTGCTGCTGCTGCTGCTGC	GTGCTGCTGCTGCTGCTGC	18: 62,648,399 (GRCm39)		probably benign	Het
Frmpd4	G	A	X: 166,269,803 (GRCm39)	T493M	probably damaging	Het
Galnt13	A	G	2: 54,823,519 (GRCm39)	N365S	possibly damaging	Het
Hrob	A	G	11: 102,148,732 (GRCm39)	E381G	possibly damaging	Het
Ighv1-19	C	A	12: 114,672,497 (GRCm39)	C40F	probably damaging	Het
Ints4	A	G	7: 97,155,308 (GRCm39)	Q320R	probably benign	Het
Kctd5	T	C	17: 24,278,212 (GRCm39)	D146G	probably benign	Het
Loxl3	T	C	6: 83,027,652 (GRCm39)		probably null	Het
Lrp2	G	A	2: 69,294,923 (GRCm39)	P3465L	probably damaging	Het
Lrp2	A	T	2: 69,365,251 (GRCm39)		probably null	Het
Manba	G	A	3: 135,260,611 (GRCm39)	V599I	probably benign	Het
Mbd6	A	G	10: 127,121,637 (GRCm39)		probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Nepn	A	T	10: 52,280,110 (GRCm39)	N401Y	probably damaging	Het
Nol10	A	T	12: 17,474,674 (GRCm39)	K622I	probably benign	Het
Npas3	T	C	12: 53,401,175 (GRCm39)	I40T	probably benign	Het
Or1e29	T	C	11: 73,667,565 (GRCm39)	E196G	probably benign	Het
Or1j19	A	T	2: 36,676,578 (GRCm39)	I14F	possibly damaging	Het
Or2d4	T	A	7: 106,543,684 (GRCm39)	N175Y	probably damaging	Het
Or4n4b	T	A	14: 50,535,962 (GRCm39)	D268V	probably damaging	Het
Or5p73	T	C	7: 108,064,633 (GRCm39)	I34T	possibly damaging	Het
Or8g33	T	A	9: 39,338,365 (GRCm39)	M1L	probably benign	Het
Phtf1	A	G	3: 103,893,095 (GRCm39)	M120V	probably benign	Het
Plxna2	A	G	1: 194,471,193 (GRCm39)	Y988C	probably benign	Het
Rgs12	G	A	5: 35,189,595 (GRCm39)	E658K	probably damaging	Het
Ripor3	C	G	2: 167,834,739 (GRCm39)	E251Q	probably damaging	Het
Sec24b	T	C	3: 129,827,482 (GRCm39)	K203R	possibly damaging	Het
Serpina1d	T	A	12: 103,734,164 (GRCm39)	N47Y	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Sirpb1c	T	C	3: 15,887,287 (GRCm39)	K184R	probably damaging	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Upp2	T	C	2: 58,645,379 (GRCm39)	S41P	probably benign	Het
Vmn1r10	A	G	6: 57,090,719 (GRCm39)	T104A	probably damaging	Het
Wdhd1	A	C	14: 47,485,349 (GRCm39)	S838R	possibly damaging	Het
Zer1	A	G	2: 30,000,923 (GRCm39)	V166A	probably benign	Het
Zfp217	T	C	2: 169,956,308 (GRCm39)	N897D	probably benign	Het
Zfp960	T	A	17: 17,308,633 (GRCm39)	L449H	probably damaging	Het

Other mutations in Crlf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02878:Crlf1	APN	8	70,956,290 (GRCm39)	critical splice donor site	probably null
R0317:Crlf1	UTSW	8	70,951,249 (GRCm39)	missense	probably benign
R0398:Crlf1	UTSW	8	70,951,739 (GRCm39)	splice site	probably benign
R0437:Crlf1	UTSW	8	70,952,164 (GRCm39)	splice site	probably null
R1191:Crlf1	UTSW	8	70,951,478 (GRCm39)	missense	probably damaging	1.00
R1741:Crlf1	UTSW	8	70,953,556 (GRCm39)	missense	probably damaging	0.99
R3730:Crlf1	UTSW	8	70,952,092 (GRCm39)	missense	probably benign	0.03
R4467:Crlf1	UTSW	8	70,953,606 (GRCm39)	nonsense	probably null
R5557:Crlf1	UTSW	8	70,951,317 (GRCm39)	missense	probably benign	0.12
R6009:Crlf1	UTSW	8	70,956,129 (GRCm39)	missense	probably damaging	1.00
R6348:Crlf1	UTSW	8	70,945,990 (GRCm39)	missense	probably benign
R6606:Crlf1	UTSW	8	70,953,824 (GRCm39)	missense	probably damaging	1.00
R7947:Crlf1	UTSW	8	70,951,862 (GRCm39)	missense	probably damaging	1.00
R9313:Crlf1	UTSW	8	70,951,466 (GRCm39)	missense	probably damaging	1.00
R9348:Crlf1	UTSW	8	70,951,316 (GRCm39)	missense	probably benign	0.21
X0062:Crlf1	UTSW	8	70,951,487 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCTGAGGTTGGTACCCAG -3'
(R):5'- TGAACAACCACTGTCCTGC -3'

Sequencing Primer
(F):5'- GTGTGACTTCTGGCAATACTTAC -3'
(R):5'- ACTGTCCTGCAACCACCGTG -3'

Posted On

2015-03-18