Incidental Mutation 'R6348:Crlf1'
ID |
514442 |
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 |
044502-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.791)
|
Stock # |
R6348 (G1)
|
Quality Score |
91.0081 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
70945808-70956731 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70945990 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 22
(S22P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000008032
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008032]
[ENSMUST00000132648]
|
AlphaFold |
Q9JM58 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000008032
AA Change: S22P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000008032 Gene: ENSMUSG00000007888 AA Change: S22P
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: 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: ENSMUST00000211264
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (37/37) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox5 |
A |
T |
6: 116,391,556 (GRCm39) |
H400Q |
probably damaging |
Het |
Arhgef16 |
G |
T |
4: 154,371,540 (GRCm39) |
Q218K |
probably benign |
Het |
Asxl3 |
A |
T |
18: 22,650,330 (GRCm39) |
H773L |
possibly damaging |
Het |
Atic |
C |
T |
1: 71,615,857 (GRCm39) |
R468W |
probably damaging |
Het |
Bfsp2 |
A |
T |
9: 103,357,271 (GRCm39) |
V52D |
probably benign |
Het |
Bicd2 |
A |
G |
13: 49,533,322 (GRCm39) |
H636R |
probably damaging |
Het |
Chac2 |
A |
G |
11: 30,927,406 (GRCm39) |
V171A |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,737,903 (GRCm39) |
I1512V |
possibly damaging |
Het |
Cnbd1 |
T |
C |
4: 18,860,462 (GRCm39) |
D428G |
probably damaging |
Het |
Crybg1 |
A |
G |
10: 43,879,947 (GRCm39) |
F414L |
probably damaging |
Het |
Dnah14 |
A |
T |
1: 181,454,285 (GRCm39) |
D765V |
possibly damaging |
Het |
Fat3 |
A |
G |
9: 15,849,287 (GRCm39) |
|
probably null |
Het |
Gabbr1 |
A |
T |
17: 37,367,791 (GRCm39) |
M414L |
possibly damaging |
Het |
Grip2 |
A |
T |
6: 91,757,419 (GRCm39) |
D412E |
probably damaging |
Het |
Herc1 |
G |
A |
9: 66,395,258 (GRCm39) |
A4198T |
possibly damaging |
Het |
Hsd3b3 |
C |
T |
3: 98,663,265 (GRCm39) |
|
probably null |
Het |
Ifi213 |
G |
A |
1: 173,417,848 (GRCm39) |
T188I |
possibly damaging |
Het |
Il36rn |
G |
A |
2: 24,169,726 (GRCm39) |
A29T |
probably damaging |
Het |
Klk1b11 |
T |
C |
7: 43,647,275 (GRCm39) |
|
probably null |
Het |
Mepce |
A |
T |
5: 137,783,698 (GRCm39) |
D209E |
possibly damaging |
Het |
Mtr |
A |
C |
13: 12,262,840 (GRCm39) |
V111G |
possibly damaging |
Het |
Mtrex |
T |
A |
13: 113,047,451 (GRCm39) |
H298L |
possibly damaging |
Het |
Or2h1b |
A |
G |
17: 37,462,497 (GRCm39) |
V122A |
probably damaging |
Het |
Or8k24 |
T |
A |
2: 86,216,513 (GRCm39) |
Q83L |
probably benign |
Het |
Or9k2b |
A |
T |
10: 130,016,166 (GRCm39) |
N194K |
probably benign |
Het |
P2rx1 |
G |
A |
11: 72,890,148 (GRCm39) |
R3Q |
probably benign |
Het |
Phc2 |
G |
A |
4: 128,598,944 (GRCm39) |
G34S |
probably benign |
Het |
Poglut3 |
G |
A |
9: 53,301,740 (GRCm39) |
V131M |
probably damaging |
Het |
Ppm1a |
A |
G |
12: 72,837,449 (GRCm39) |
H332R |
probably benign |
Het |
Sdk2 |
A |
G |
11: 113,784,334 (GRCm39) |
V135A |
probably benign |
Het |
Slc2a4 |
T |
C |
11: 69,835,848 (GRCm39) |
T334A |
probably benign |
Het |
Slc6a15 |
T |
G |
10: 103,240,228 (GRCm39) |
V317G |
probably damaging |
Het |
Speer2 |
T |
C |
16: 69,654,895 (GRCm39) |
D190G |
possibly damaging |
Het |
Tbc1d21 |
G |
A |
9: 58,268,501 (GRCm39) |
A286V |
probably benign |
Het |
Tmem210 |
T |
C |
2: 25,178,796 (GRCm39) |
S82P |
probably benign |
Het |
Top6bl |
G |
C |
19: 4,722,106 (GRCm39) |
P105A |
probably damaging |
Het |
Zbtb26 |
C |
T |
2: 37,325,687 (GRCm39) |
V450M |
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 |
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 |
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'- CAATTTCGGCTGCTCAGAC -3'
(R):5'- TAACGGGGTACTCTTGGGAG -3'
Sequencing Primer
(F):5'- TGCTCAGACTTGCTCCGG -3'
(R):5'- ATGAGCCCCACAGGTGAG -3'
|
Posted On |
2018-04-27 |