Incidental Mutation 'R6606:Crlf1'
| ID |
525688 |
| 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 |
044729-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.791)
|
| Stock # |
R6606 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70945808-70956731 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70953824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 310
(Y310C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008032]
[ENSMUST00000075175]
[ENSMUST00000132648]
[ENSMUST00000136913]
|
| AlphaFold |
Q9JM58 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008032
AA Change: Y310C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000008032
Gene: ENSMUSG00000007888
AA Change: Y310C
| 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 |
unknown
Transcript: ENSMUST00000127983
AA Change: Y14C
|
| SMART Domains |
Protein: ENSMUSP00000115614
Gene: ENSMUSG00000007888
AA Change: Y14C
| 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: ENSMUST00000133683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138196
|
| 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: ENSMUST00000135773
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143598
|
| Meta Mutation Damage Score |
0.9676 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
| Validation Efficiency |
100% (35/35) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adal |
A |
G |
2: 120,980,769 (GRCm39) |
E21G |
probably damaging |
Het |
| Ankk1 |
T |
C |
9: 49,327,646 (GRCm39) |
Y511C |
probably benign |
Het |
| Atn1 |
G |
A |
6: 124,721,919 (GRCm39) |
|
probably benign |
Het |
| Ccnt2 |
C |
A |
1: 127,730,978 (GRCm39) |
S618R |
probably benign |
Het |
| Ces4a |
A |
G |
8: 105,876,010 (GRCm39) |
N517S |
possibly damaging |
Het |
| Chd4 |
C |
A |
6: 125,086,389 (GRCm39) |
T963K |
probably damaging |
Het |
| Cyyr1 |
A |
G |
16: 85,254,438 (GRCm39) |
Y155H |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,660,179 (GRCm39) |
I831N |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Echdc1 |
A |
G |
10: 29,189,711 (GRCm39) |
I17V |
probably benign |
Het |
| Ephx4 |
G |
T |
5: 107,560,931 (GRCm39) |
V28F |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,523,921 (GRCm39) |
I651T |
probably damaging |
Het |
| Fbln7 |
A |
G |
2: 128,719,296 (GRCm39) |
Q31R |
possibly damaging |
Het |
| Fbxl17 |
A |
G |
17: 63,794,783 (GRCm39) |
V433A |
probably damaging |
Het |
| Gm20449 |
T |
C |
7: 41,108,253 (GRCm39) |
E39G |
unknown |
Het |
| Gprc5b |
G |
A |
7: 118,583,296 (GRCm39) |
P191L |
probably benign |
Het |
| Klhl1 |
T |
C |
14: 96,360,658 (GRCm39) |
T731A |
possibly damaging |
Het |
| Myo3b |
A |
G |
2: 70,062,829 (GRCm39) |
D371G |
possibly damaging |
Het |
| Or10n1 |
G |
A |
9: 39,525,378 (GRCm39) |
V172M |
probably damaging |
Het |
| P4ha3 |
G |
T |
7: 99,954,851 (GRCm39) |
C303F |
probably damaging |
Het |
| Parp10 |
C |
A |
15: 76,124,308 (GRCm39) |
V782L |
possibly damaging |
Het |
| Prpf40a |
A |
G |
2: 53,041,763 (GRCm39) |
S501P |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,265,104 (GRCm39) |
|
probably null |
Het |
| Ptprz1 |
A |
C |
6: 23,002,500 (GRCm39) |
H1530P |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,132,801 (GRCm39) |
K18E |
probably damaging |
Het |
| Rit1 |
A |
G |
3: 88,624,945 (GRCm39) |
E48G |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rspo3 |
C |
T |
10: 29,330,277 (GRCm39) |
R228K |
unknown |
Het |
| Scai |
A |
T |
2: 38,965,147 (GRCm39) |
S566T |
probably benign |
Het |
| Scn4a |
T |
C |
11: 106,218,899 (GRCm39) |
E973G |
probably benign |
Het |
| Slc15a3 |
T |
A |
19: 10,826,046 (GRCm39) |
F246I |
possibly damaging |
Het |
| Stfa3 |
T |
C |
16: 36,275,647 (GRCm39) |
D27G |
possibly damaging |
Het |
| Uba5 |
T |
C |
9: 103,932,420 (GRCm39) |
D181G |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,607,156 (GRCm39) |
T25A |
probably benign |
Het |
| Zbtb43 |
G |
T |
2: 33,345,066 (GRCm39) |
S16Y |
probably damaging |
Het |
| Zyg11b |
G |
A |
4: 108,093,286 (GRCm39) |
A717V |
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 |
|
R6348:Crlf1
|
UTSW |
8 |
70,945,990 (GRCm39) |
missense |
probably benign |
|
|
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'- AAGTACCAGATCCGCTACCG -3'
(R):5'- AGTCTCCCAAAGGTGGTGATG -3'
Sequencing Primer
(F):5'- TACCGCGTGGAGGACAG -3'
(R):5'- GGTGCTCACCACTTCGA -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation