Incidental Mutation 'IGL02877:Crnkl1'
| ID |
362674 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Crnkl1
|
| Ensembl Gene |
ENSMUSG00000001767 |
| Gene Name |
crooked neck pre-mRNA splicing factor 1 |
| Synonyms |
crn, 5730590A01Rik, 1200013P10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
IGL02877
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
145759402-145776620 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 145762591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 525
(E525*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001818
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001818]
[ENSMUST00000002805]
[ENSMUST00000110000]
|
| AlphaFold |
P63154 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001818
AA Change: E525*
|
| SMART Domains |
Protein: ENSMUSP00000001818
Gene: ENSMUSG00000001767
AA Change: E525*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
52 |
N/A |
INTRINSIC |
|
HAT
|
61 |
93 |
4.57e-2 |
SMART |
|
HAT
|
95 |
127 |
3.48e-7 |
SMART |
|
HAT
|
129 |
161 |
3.33e-4 |
SMART |
|
HAT
|
163 |
194 |
2.48e-3 |
SMART |
|
HAT
|
196 |
227 |
1.32e-7 |
SMART |
|
HAT
|
229 |
264 |
2.11e-6 |
SMART |
|
HAT
|
266 |
300 |
2.07e0 |
SMART |
|
Blast:HAT
|
310 |
342 |
1e-13 |
BLAST |
|
HAT
|
344 |
378 |
3.88e-5 |
SMART |
|
HAT
|
388 |
424 |
6.86e-6 |
SMART |
|
HAT
|
426 |
457 |
1.92e2 |
SMART |
|
HAT
|
459 |
491 |
1.29e-1 |
SMART |
|
HAT
|
493 |
527 |
2e-7 |
SMART |
|
HAT
|
529 |
560 |
8.07e-3 |
SMART |
|
coiled coil region
|
566 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
676 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002805
|
| SMART Domains |
Protein: ENSMUSP00000002805
Gene: ENSMUSG00000002728
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acetyltransf_7
|
40 |
140 |
2.1e-8 |
PFAM |
|
Pfam:Acetyltransf_1
|
48 |
139 |
4.3e-15 |
PFAM |
|
Pfam:FR47
|
67 |
148 |
3.6e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110000
|
| SMART Domains |
Protein: ENSMUSP00000105627
Gene: ENSMUSG00000002728
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acetyltransf_10
|
26 |
128 |
5.9e-8 |
PFAM |
|
Pfam:Acetyltransf_7
|
40 |
130 |
5.1e-10 |
PFAM |
|
Pfam:Acetyltransf_1
|
48 |
129 |
8.3e-18 |
PFAM |
|
Pfam:FR47
|
55 |
138 |
7.3e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129502
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The crooked neck (crn) gene of Drosophila is essential for embryogenesis and is thought to be involved in cell cycle progression and pre-mRNA splicing. A protein encoded by this human locus has been found to localize to pre-mRNA splicing complexes in the nucleus and is necessary for pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,078,875 (GRCm39) |
Y712* |
probably null |
Het |
| Adcy5 |
A |
G |
16: 35,118,970 (GRCm39) |
D1107G |
probably damaging |
Het |
| Ankhd1 |
C |
A |
18: 36,727,876 (GRCm39) |
T504K |
probably damaging |
Het |
| Asb18 |
C |
T |
1: 89,880,533 (GRCm39) |
C160Y |
possibly damaging |
Het |
| Capn13 |
A |
G |
17: 73,629,050 (GRCm39) |
S586P |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,882,550 (GRCm39) |
T1199S |
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cnot8 |
A |
G |
11: 58,002,228 (GRCm39) |
E87G |
probably benign |
Het |
| Eif2d |
T |
C |
1: 131,092,854 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
A |
G |
17: 23,979,388 (GRCm39) |
S416P |
probably damaging |
Het |
| Glcci1 |
T |
C |
6: 8,582,757 (GRCm39) |
S373P |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,899,327 (GRCm39) |
R905G |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,766,450 (GRCm39) |
V706A |
unknown |
Het |
| Ift74 |
T |
C |
4: 94,513,018 (GRCm39) |
|
probably null |
Het |
| Ighv8-6 |
A |
T |
12: 115,129,700 (GRCm39) |
S19T |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,919,312 (GRCm39) |
N1821K |
probably benign |
Het |
| Msx1 |
G |
A |
5: 37,981,344 (GRCm39) |
P112S |
possibly damaging |
Het |
| Nes |
A |
G |
3: 87,882,968 (GRCm39) |
D409G |
probably benign |
Het |
| Nsmf |
A |
T |
2: 24,945,968 (GRCm39) |
I152F |
possibly damaging |
Het |
| Nt5c1a |
T |
A |
4: 123,109,867 (GRCm39) |
I322N |
probably damaging |
Het |
| Or7g27 |
T |
C |
9: 19,250,497 (GRCm39) |
V247A |
possibly damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,330,248 (GRCm39) |
T49A |
probably benign |
Het |
| Ptx3 |
A |
G |
3: 66,132,196 (GRCm39) |
Y239C |
probably damaging |
Het |
| Rarg |
G |
T |
15: 102,150,374 (GRCm39) |
|
probably null |
Het |
| Slc33a1 |
G |
A |
3: 63,850,806 (GRCm39) |
T506I |
probably benign |
Het |
| Spem2 |
T |
G |
11: 69,708,521 (GRCm39) |
H148P |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,942,581 (GRCm39) |
D961G |
probably damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,368,054 (GRCm39) |
H313Y |
probably damaging |
Het |
|
| Other mutations in Crnkl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Crnkl1
|
APN |
2 |
145,760,388 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01092:Crnkl1
|
APN |
2 |
145,761,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01643:Crnkl1
|
APN |
2 |
145,773,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01902:Crnkl1
|
APN |
2 |
145,766,632 (GRCm39) |
splice site |
probably null |
|
|
IGL01908:Crnkl1
|
APN |
2 |
145,770,075 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01934:Crnkl1
|
APN |
2 |
145,773,202 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01947:Crnkl1
|
APN |
2 |
145,763,744 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02342:Crnkl1
|
APN |
2 |
145,766,633 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02721:Crnkl1
|
APN |
2 |
145,765,801 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02794:Crnkl1
|
APN |
2 |
145,772,532 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03131:Crnkl1
|
APN |
2 |
145,774,178 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0326:Crnkl1
|
UTSW |
2 |
145,761,875 (GRCm39) |
missense |
probably benign |
|
|
R1462:Crnkl1
|
UTSW |
2 |
145,763,739 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1462:Crnkl1
|
UTSW |
2 |
145,763,739 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1471:Crnkl1
|
UTSW |
2 |
145,774,236 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1951:Crnkl1
|
UTSW |
2 |
145,770,120 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1952:Crnkl1
|
UTSW |
2 |
145,770,120 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1953:Crnkl1
|
UTSW |
2 |
145,770,120 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2112:Crnkl1
|
UTSW |
2 |
145,772,617 (GRCm39) |
nonsense |
probably null |
|
|
R2405:Crnkl1
|
UTSW |
2 |
145,770,077 (GRCm39) |
nonsense |
probably null |
|
|
R2972:Crnkl1
|
UTSW |
2 |
145,774,181 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2973:Crnkl1
|
UTSW |
2 |
145,774,181 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2974:Crnkl1
|
UTSW |
2 |
145,774,181 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3801:Crnkl1
|
UTSW |
2 |
145,761,715 (GRCm39) |
missense |
probably benign |
|
|
R3811:Crnkl1
|
UTSW |
2 |
145,773,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4037:Crnkl1
|
UTSW |
2 |
145,774,247 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4038:Crnkl1
|
UTSW |
2 |
145,774,247 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4039:Crnkl1
|
UTSW |
2 |
145,774,247 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4976:Crnkl1
|
UTSW |
2 |
145,765,796 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5396:Crnkl1
|
UTSW |
2 |
145,770,132 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5868:Crnkl1
|
UTSW |
2 |
145,760,473 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6245:Crnkl1
|
UTSW |
2 |
145,770,051 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6564:Crnkl1
|
UTSW |
2 |
145,770,165 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7772:Crnkl1
|
UTSW |
2 |
145,772,564 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7787:Crnkl1
|
UTSW |
2 |
145,767,515 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7829:Crnkl1
|
UTSW |
2 |
145,773,269 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8022:Crnkl1
|
UTSW |
2 |
145,760,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8045:Crnkl1
|
UTSW |
2 |
145,774,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8805:Crnkl1
|
UTSW |
2 |
145,773,350 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9211:Crnkl1
|
UTSW |
2 |
145,774,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9256:Crnkl1
|
UTSW |
2 |
145,770,216 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9274:Crnkl1
|
UTSW |
2 |
145,765,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9525:Crnkl1
|
UTSW |
2 |
145,770,198 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9547:Crnkl1
|
UTSW |
2 |
145,772,550 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9678:Crnkl1
|
UTSW |
2 |
145,761,875 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation