Incidental Mutation 'R4467:Crlf1'
ID |
329243 |
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 |
MMRRC Submission |
041724-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.791)
|
Stock # |
R4467 (G1)
|
Quality Score |
178 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
70945808-70956731 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 70953606 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 260
(W260*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000008032
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008032]
[ENSMUST00000075175]
[ENSMUST00000132648]
[ENSMUST00000136913]
|
AlphaFold |
Q9JM58 |
Predicted Effect |
probably null
Transcript: ENSMUST00000008032
AA Change: W260*
|
SMART Domains |
Protein: ENSMUSP00000008032 Gene: ENSMUSG00000007888 AA Change: W260*
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 |
noncoding transcript
Transcript: ENSMUST00000128620
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132107
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132648
|
SMART Domains |
Protein: ENSMUSP00000119545 Gene: ENSMUSG00000007888
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: ENSMUST00000138196
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135773
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143598
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133683
|
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 |
|
Meta Mutation Damage Score |
0.9753 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
98% (52/53) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
Atg4a-ps |
A |
G |
3: 103,553,171 (GRCm39) |
Y57H |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Bms1 |
G |
A |
6: 118,360,808 (GRCm39) |
T1220I |
probably damaging |
Het |
Brat1 |
T |
C |
5: 140,690,826 (GRCm39) |
|
probably benign |
Het |
Cds2 |
T |
A |
2: 132,136,366 (GRCm39) |
Y39* |
probably null |
Het |
Chrnd |
T |
A |
1: 87,125,099 (GRCm39) |
L384Q |
probably damaging |
Het |
Cpa3 |
A |
T |
3: 20,282,981 (GRCm39) |
Y155* |
probably null |
Het |
Cux1 |
C |
G |
5: 136,341,576 (GRCm39) |
E605D |
probably damaging |
Het |
Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
Dmtf1 |
T |
C |
5: 9,186,085 (GRCm39) |
N167S |
probably damaging |
Het |
Dnaaf9 |
A |
G |
2: 130,609,567 (GRCm39) |
I372T |
probably damaging |
Het |
Dnai7 |
A |
T |
6: 145,128,944 (GRCm39) |
|
probably null |
Het |
Dtx2 |
T |
A |
5: 136,040,930 (GRCm39) |
W112R |
probably damaging |
Het |
Elf3 |
A |
G |
1: 135,184,582 (GRCm39) |
I138T |
probably damaging |
Het |
F11 |
T |
A |
8: 45,694,511 (GRCm39) |
I617F |
probably damaging |
Het |
Fdps |
A |
T |
3: 89,008,093 (GRCm39) |
D8E |
possibly damaging |
Het |
Fzd10 |
C |
A |
5: 128,678,340 (GRCm39) |
T20K |
probably benign |
Het |
Gm9978 |
T |
A |
10: 78,322,750 (GRCm39) |
|
noncoding transcript |
Het |
Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
Has1 |
C |
T |
17: 18,064,257 (GRCm39) |
V461M |
probably benign |
Het |
Hdac3 |
C |
T |
18: 38,085,566 (GRCm39) |
G80D |
probably benign |
Het |
Klk12 |
A |
T |
7: 43,422,807 (GRCm39) |
R245W |
probably damaging |
Het |
Lamp5 |
A |
G |
2: 135,900,940 (GRCm39) |
I47V |
probably damaging |
Het |
Or6c1b |
T |
C |
10: 129,272,933 (GRCm39) |
I84T |
probably benign |
Het |
Ovgp1 |
A |
G |
3: 105,885,027 (GRCm39) |
D122G |
probably benign |
Het |
Piezo1 |
T |
C |
8: 123,213,135 (GRCm39) |
E1875G |
probably benign |
Het |
Pih1d1 |
A |
G |
7: 44,807,921 (GRCm39) |
M132V |
possibly damaging |
Het |
Pon2 |
C |
T |
6: 5,267,021 (GRCm39) |
A241T |
probably benign |
Het |
Prkce |
A |
G |
17: 86,927,339 (GRCm39) |
I538V |
possibly damaging |
Het |
Rab36 |
C |
T |
10: 74,887,875 (GRCm39) |
R249* |
probably null |
Het |
Rps6kl1 |
C |
T |
12: 85,194,582 (GRCm39) |
A110T |
probably damaging |
Het |
Rsad1 |
T |
C |
11: 94,435,356 (GRCm39) |
T244A |
probably benign |
Het |
Slc22a7 |
T |
C |
17: 46,743,436 (GRCm39) |
I532V |
probably benign |
Het |
Slc2a7 |
T |
C |
4: 150,247,731 (GRCm39) |
V377A |
possibly damaging |
Het |
Slx4 |
A |
G |
16: 3,806,919 (GRCm39) |
V508A |
possibly damaging |
Het |
Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Het |
Stat6 |
T |
G |
10: 127,487,097 (GRCm39) |
I201M |
probably damaging |
Het |
Stim2 |
T |
C |
5: 54,273,536 (GRCm39) |
|
probably null |
Het |
Tbc1d9 |
A |
G |
8: 83,937,107 (GRCm39) |
Y63C |
probably damaging |
Het |
Tctn2 |
T |
C |
5: 124,758,252 (GRCm39) |
|
noncoding transcript |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Ubr5 |
T |
A |
15: 38,004,580 (GRCm39) |
T1282S |
probably damaging |
Het |
Ufl1 |
A |
T |
4: 25,254,806 (GRCm39) |
I550N |
probably damaging |
Het |
Uty |
A |
G |
Y: 1,158,372 (GRCm39) |
V557A |
possibly damaging |
Het |
Vmn1r54 |
T |
C |
6: 90,246,253 (GRCm39) |
S56P |
probably damaging |
Het |
Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
probably benign |
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 |
R3731:Crlf1
|
UTSW |
8 |
70,952,092 (GRCm39) |
missense |
probably benign |
0.03 |
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'- CAAGCAGTCCTCAGAACTGG -3'
(R):5'- TCTGGTTGCTGACGTCATC -3'
Sequencing Primer
(F):5'- AAGGATCTCTCTGAGTTCAAGGCC -3'
(R):5'- GTTGCTGACGTCATCCACCAC -3'
|
Posted On |
2015-07-21 |