Incidental Mutation 'IGL01092:Crnkl1'
ID |
50477 |
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 # |
IGL01092
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
145759402-145776620 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 145761868 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 563
(K563R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001818
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001818]
[ENSMUST00000002805]
[ENSMUST00000110000]
[ENSMUST00000149461]
[ENSMUST00000165635]
[ENSMUST00000169732]
|
AlphaFold |
P63154 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001818
AA Change: K563R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000001818 Gene: ENSMUSG00000001767 AA Change: K563R
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149461
|
SMART Domains |
Protein: ENSMUSP00000127918 Gene: ENSMUSG00000002728
Domain | Start | End | E-Value | Type |
SCOP:d1cjwa_
|
3 |
73 |
5e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165635
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169732
|
SMART Domains |
Protein: ENSMUSP00000132857 Gene: ENSMUSG00000002728
Domain | Start | End | E-Value | Type |
Pfam:Acetyltransf_1
|
40 |
112 |
2.2e-9 |
PFAM |
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap33 |
T |
C |
7: 30,229,371 (GRCm39) |
R335G |
probably damaging |
Het |
Atad2b |
C |
T |
12: 5,067,987 (GRCm39) |
S995L |
probably damaging |
Het |
Atrn |
A |
T |
2: 130,789,556 (GRCm39) |
R340* |
probably null |
Het |
Ccdc83 |
A |
T |
7: 89,896,313 (GRCm39) |
D85E |
probably benign |
Het |
Chd2 |
A |
T |
7: 73,091,434 (GRCm39) |
H1602Q |
possibly damaging |
Het |
Cog2 |
A |
G |
8: 125,272,019 (GRCm39) |
D511G |
probably damaging |
Het |
Col4a4 |
G |
T |
1: 82,444,266 (GRCm39) |
P1334T |
unknown |
Het |
Creb3l4 |
T |
C |
3: 90,145,045 (GRCm39) |
E369G |
probably damaging |
Het |
Dbi |
T |
C |
1: 120,041,207 (GRCm39) |
K131E |
probably benign |
Het |
Edn1 |
A |
G |
13: 42,457,147 (GRCm39) |
D60G |
probably damaging |
Het |
Erbin |
T |
C |
13: 103,970,520 (GRCm39) |
N1032S |
probably damaging |
Het |
Ero1a |
T |
C |
14: 45,541,043 (GRCm39) |
D107G |
probably benign |
Het |
Glmn |
A |
T |
5: 107,726,378 (GRCm39) |
|
probably null |
Het |
Grxcr1 |
T |
C |
5: 68,267,905 (GRCm39) |
|
probably benign |
Het |
Itih3 |
T |
A |
14: 30,631,738 (GRCm39) |
K593I |
probably damaging |
Het |
Kmt2b |
T |
C |
7: 30,279,932 (GRCm39) |
Y1356C |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 40,640,959 (GRCm39) |
C3495Y |
probably damaging |
Het |
Map3k13 |
A |
T |
16: 21,746,766 (GRCm39) |
T950S |
probably damaging |
Het |
Me1 |
A |
T |
9: 86,480,801 (GRCm39) |
V348D |
probably damaging |
Het |
Morc2a |
T |
C |
11: 3,634,042 (GRCm39) |
V718A |
probably benign |
Het |
Myh7 |
T |
C |
14: 55,209,089 (GRCm39) |
E1883G |
possibly damaging |
Het |
Or10ak14 |
T |
A |
4: 118,610,959 (GRCm39) |
I259F |
possibly damaging |
Het |
Or8b49 |
T |
G |
9: 38,506,201 (GRCm39) |
I228R |
probably damaging |
Het |
Pdcd6ip |
A |
G |
9: 113,509,249 (GRCm39) |
|
probably benign |
Het |
Plcb3 |
T |
A |
19: 6,932,690 (GRCm39) |
E1025V |
probably benign |
Het |
Ppp1r26 |
C |
T |
2: 28,343,872 (GRCm39) |
|
probably benign |
Het |
Prkd1 |
T |
C |
12: 50,430,298 (GRCm39) |
|
probably benign |
Het |
Rwdd4a |
C |
T |
8: 47,997,147 (GRCm39) |
T122M |
possibly damaging |
Het |
Sdhb |
T |
G |
4: 140,704,791 (GRCm39) |
C251G |
probably damaging |
Het |
Siglec1 |
A |
T |
2: 130,921,137 (GRCm39) |
I678N |
probably damaging |
Het |
Snrnp70 |
T |
C |
7: 45,026,801 (GRCm39) |
D215G |
probably damaging |
Het |
Ston1 |
A |
G |
17: 88,951,871 (GRCm39) |
E674G |
probably benign |
Het |
Tbl3 |
T |
C |
17: 24,920,879 (GRCm39) |
|
probably benign |
Het |
Tbl3 |
A |
T |
17: 24,924,226 (GRCm39) |
I177N |
probably damaging |
Het |
Tnrc6c |
T |
C |
11: 117,612,811 (GRCm39) |
V483A |
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 |
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 |
IGL02877:Crnkl1
|
APN |
2 |
145,762,591 (GRCm39) |
nonsense |
probably null |
|
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 |
2013-06-21 |