Incidental Mutation 'R3730:Crlf1'
| ID |
270931 |
| 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)
|
| Stock # |
R3730 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| 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: 99.0%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 90.5%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
G |
1: 11,615,450 (GRCm39) |
N141S |
probably damaging |
Het |
| Acbd6 |
T |
A |
1: 155,434,471 (GRCm39) |
S30T |
probably benign |
Het |
| Acot12 |
T |
A |
13: 91,908,145 (GRCm39) |
F109Y |
possibly damaging |
Het |
| Adamts19 |
G |
A |
18: 59,033,982 (GRCm39) |
R319Q |
probably damaging |
Het |
| Akap1 |
T |
C |
11: 88,736,008 (GRCm39) |
E218G |
possibly damaging |
Het |
| Atg4b |
T |
A |
1: 93,695,997 (GRCm39) |
D45E |
probably damaging |
Het |
| Atoh1 |
A |
G |
6: 64,706,557 (GRCm39) |
E84G |
probably benign |
Het |
| Cemip2 |
A |
G |
19: 21,803,481 (GRCm39) |
Y838C |
probably damaging |
Het |
| Cfap251 |
A |
T |
5: 123,464,631 (GRCm39) |
I1280L |
possibly damaging |
Het |
| Cfap54 |
A |
T |
10: 92,847,335 (GRCm39) |
Y951* |
probably null |
Het |
| Col4a4 |
T |
A |
1: 82,433,472 (GRCm39) |
|
probably null |
Het |
| Cyp3a25 |
G |
A |
5: 145,939,891 (GRCm39) |
P39S |
probably damaging |
Het |
| Dhx9 |
C |
A |
1: 153,353,866 (GRCm39) |
A186S |
probably benign |
Het |
| Dusp16 |
A |
G |
6: 134,695,824 (GRCm39) |
S336P |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,784,882 (GRCm39) |
V314A |
possibly damaging |
Het |
| Focad |
T |
C |
4: 88,327,162 (GRCm39) |
I157T |
possibly damaging |
Het |
| Frem3 |
A |
T |
8: 81,342,545 (GRCm39) |
T1613S |
probably damaging |
Het |
| Fshr |
C |
T |
17: 89,309,143 (GRCm39) |
V222I |
probably benign |
Het |
| Galnt13 |
A |
G |
2: 54,823,519 (GRCm39) |
N365S |
possibly damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Ice1 |
A |
T |
13: 70,751,359 (GRCm39) |
S1576T |
probably damaging |
Het |
| Ighv1-19 |
C |
A |
12: 114,672,497 (GRCm39) |
C40F |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,198,321 (GRCm39) |
T555A |
possibly damaging |
Het |
| Kctd5 |
T |
C |
17: 24,278,212 (GRCm39) |
D146G |
probably benign |
Het |
| Ktn1 |
A |
G |
14: 47,938,606 (GRCm39) |
E766G |
probably damaging |
Het |
| Ldlr |
C |
G |
9: 21,643,097 (GRCm39) |
A41G |
probably benign |
Het |
| Lrp2 |
G |
A |
2: 69,294,923 (GRCm39) |
P3465L |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,365,251 (GRCm39) |
|
probably null |
Het |
| Mapk11 |
G |
A |
15: 89,029,318 (GRCm39) |
A248V |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Npr2 |
T |
C |
4: 43,640,999 (GRCm39) |
S402P |
possibly damaging |
Het |
| Olfm2 |
T |
C |
9: 20,584,063 (GRCm39) |
N76D |
probably damaging |
Het |
| Or7g33 |
T |
A |
9: 19,448,447 (GRCm39) |
I260F |
probably benign |
Het |
| Or8k3 |
A |
G |
2: 86,059,195 (GRCm39) |
I40T |
probably benign |
Het |
| Pias4 |
A |
T |
10: 80,999,888 (GRCm39) |
F55Y |
probably damaging |
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 |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc35e4 |
A |
G |
11: 3,862,577 (GRCm39) |
V204A |
possibly damaging |
Het |
| Syt4 |
T |
C |
18: 31,577,189 (GRCm39) |
H55R |
probably damaging |
Het |
| Trim46 |
T |
A |
3: 89,142,256 (GRCm39) |
T721S |
probably benign |
Het |
| Usf3 |
G |
T |
16: 44,038,938 (GRCm39) |
L1139F |
probably benign |
Het |
| Xrn2 |
A |
T |
2: 146,866,729 (GRCm39) |
M100L |
probably benign |
Het |
| Zbtb33 |
C |
A |
X: 37,281,822 (GRCm39) |
N243K |
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 |
|
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'- AAGCTGAGGTTGGTACCCAG -3'
(R):5'- TATGAACAACCACTGTCCTGC -3'
Sequencing Primer
(F):5'- GTGTGACTTCTGGCAATACTTAC -3'
(R):5'- ACTGTCCTGCAACCACCGTG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation