Incidental Mutation 'R1191:Crlf1'
| ID |
100802 |
| 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 |
039263-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.791)
|
| Stock # |
R1191 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
70945808-70956731 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70951478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 119
(C119Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008032]
[ENSMUST00000132648]
|
| AlphaFold |
Q9JM58 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008032
AA Change: C119Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000008032
Gene: ENSMUSG00000007888
AA Change: C119Y
| 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: 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
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 95.1%
- 20x: 87.9%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd27 |
T |
C |
7: 35,301,912 (GRCm39) |
F144L |
probably damaging |
Het |
| C8b |
C |
T |
4: 104,650,520 (GRCm39) |
P377S |
probably damaging |
Het |
| Cfi |
C |
A |
3: 129,662,176 (GRCm39) |
T385N |
probably benign |
Het |
| Col15a1 |
G |
T |
4: 47,254,083 (GRCm39) |
G300* |
probably null |
Het |
| Dcaf4 |
A |
T |
12: 83,582,741 (GRCm39) |
S279C |
probably damaging |
Het |
| Gde1 |
A |
T |
7: 118,304,664 (GRCm39) |
H70Q |
probably damaging |
Het |
| Gpt2 |
A |
T |
8: 86,235,901 (GRCm39) |
N179I |
probably damaging |
Het |
| Grik5 |
G |
A |
7: 24,757,750 (GRCm39) |
Q410* |
probably null |
Het |
| Hspa2 |
C |
T |
12: 76,452,655 (GRCm39) |
R450W |
probably damaging |
Het |
| Idh3b |
A |
T |
2: 130,123,810 (GRCm39) |
M118K |
probably benign |
Het |
| Ighv5-21 |
T |
C |
12: 114,286,423 (GRCm39) |
|
probably benign |
Het |
| Il12rb2 |
C |
T |
6: 67,275,200 (GRCm39) |
V642M |
possibly damaging |
Het |
| Iqcg |
A |
G |
16: 32,870,313 (GRCm39) |
V60A |
probably benign |
Het |
| Irx6 |
T |
A |
8: 93,403,580 (GRCm39) |
Y102N |
probably damaging |
Het |
| Itgb6 |
C |
T |
2: 60,483,481 (GRCm39) |
|
probably null |
Het |
| Mmp27 |
A |
T |
9: 7,579,067 (GRCm39) |
|
probably null |
Het |
| Or10d5j |
A |
T |
9: 39,868,264 (GRCm39) |
M1K |
probably null |
Het |
| Or1j21 |
T |
A |
2: 36,683,350 (GRCm39) |
M34K |
probably damaging |
Het |
| Or2f2 |
C |
A |
6: 42,767,451 (GRCm39) |
H159Q |
probably benign |
Het |
| Or5k8 |
T |
A |
16: 58,644,922 (GRCm39) |
Y50F |
probably benign |
Het |
| Or8c8 |
G |
T |
9: 38,165,501 (GRCm39) |
V263F |
probably damaging |
Het |
| Pcdhb16 |
A |
G |
18: 37,612,926 (GRCm39) |
R629G |
probably damaging |
Het |
| Pde3b |
A |
T |
7: 114,118,810 (GRCm39) |
M650L |
probably benign |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Skint3 |
T |
A |
4: 112,092,939 (GRCm39) |
M1K |
probably null |
Het |
| Strn |
T |
C |
17: 78,999,855 (GRCm39) |
Q127R |
possibly damaging |
Het |
| Taar2 |
T |
G |
10: 23,816,927 (GRCm39) |
W156G |
probably damaging |
Het |
| Trpt1 |
G |
T |
19: 6,974,138 (GRCm39) |
M45I |
probably benign |
Het |
| Ubap2l |
T |
C |
3: 89,930,882 (GRCm39) |
T357A |
probably damaging |
Het |
| Ubr3 |
C |
T |
2: 69,851,525 (GRCm39) |
R1831* |
probably null |
Het |
| Unc79 |
T |
A |
12: 103,013,271 (GRCm39) |
Y287* |
probably null |
Het |
| Utrn |
T |
A |
10: 12,509,777 (GRCm39) |
K2398N |
probably benign |
Het |
| Vav2 |
A |
T |
2: 27,182,792 (GRCm39) |
|
probably null |
Het |
| Vps9d1 |
A |
T |
8: 123,974,706 (GRCm39) |
H249Q |
possibly damaging |
Het |
| Vwf |
T |
A |
6: 125,576,215 (GRCm39) |
C432S |
probably damaging |
Het |
| Zfp369 |
T |
A |
13: 65,439,776 (GRCm39) |
Y153* |
probably null |
Het |
| Zfp760 |
C |
T |
17: 21,942,286 (GRCm39) |
P487L |
probably damaging |
Het |
| Zswim2 |
A |
C |
2: 83,754,039 (GRCm39) |
V207G |
possibly 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 |
|
|
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 |
|
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'- GCTCATCCCATGCCTAACAAGTGTC -3'
(R):5'- TGCCAGAAGTCACACAGCAAGG -3'
Sequencing Primer
(F):5'- ATGCCTAACAAGTGTCGTCTTTG -3'
(R):5'- ATGTAAGAATGTCTCCCCGTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation