Incidental Mutation 'IGL02342:Crnkl1'
ID |
289166 |
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 # |
IGL02342
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
145759402-145776620 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 145766633 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001818
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001818]
[ENSMUST00000001818]
|
AlphaFold |
P63154 |
Predicted Effect |
probably null
Transcript: ENSMUST00000001818
|
SMART Domains |
Protein: ENSMUSP00000001818 Gene: ENSMUSG00000001767
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 null
Transcript: ENSMUST00000001818
|
SMART Domains |
Protein: ENSMUSP00000001818 Gene: ENSMUSG00000001767
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 |
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9030612E09Rik |
C |
A |
10: 43,050,997 (GRCm39) |
P97Q |
probably damaging |
Het |
Abcb10 |
A |
T |
8: 124,688,773 (GRCm39) |
V501E |
probably damaging |
Het |
Acsf3 |
T |
C |
8: 123,544,237 (GRCm39) |
Y572H |
probably benign |
Het |
Adamts3 |
A |
T |
5: 89,839,332 (GRCm39) |
|
probably null |
Het |
Alox8 |
A |
G |
11: 69,077,053 (GRCm39) |
L480P |
probably damaging |
Het |
Arhgap35 |
G |
A |
7: 16,296,305 (GRCm39) |
T920I |
probably benign |
Het |
Brca2 |
C |
A |
5: 150,466,289 (GRCm39) |
L2018M |
possibly damaging |
Het |
Brdt |
C |
A |
5: 107,490,069 (GRCm39) |
H45N |
probably damaging |
Het |
C1s2 |
A |
G |
6: 124,609,075 (GRCm39) |
F155L |
probably damaging |
Het |
Ccser2 |
A |
G |
14: 36,640,562 (GRCm39) |
|
probably benign |
Het |
Cd8a |
T |
A |
6: 71,350,723 (GRCm39) |
C63S |
probably damaging |
Het |
Clk2 |
A |
T |
3: 89,082,998 (GRCm39) |
T424S |
probably benign |
Het |
Cntn1 |
A |
G |
15: 92,143,898 (GRCm39) |
E287G |
probably benign |
Het |
Cobl |
A |
C |
11: 12,203,672 (GRCm39) |
V928G |
possibly damaging |
Het |
Col12a1 |
A |
G |
9: 79,557,178 (GRCm39) |
|
probably null |
Het |
Defb26 |
T |
C |
2: 152,350,121 (GRCm39) |
N53S |
possibly damaging |
Het |
Duox1 |
A |
T |
2: 122,177,793 (GRCm39) |
T1526S |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,142,246 (GRCm39) |
L1233P |
probably damaging |
Het |
Eif5a2 |
A |
G |
3: 28,847,910 (GRCm39) |
E116G |
possibly damaging |
Het |
Garin1b |
A |
G |
6: 29,323,829 (GRCm39) |
T185A |
possibly damaging |
Het |
Gdap2 |
G |
A |
3: 100,085,632 (GRCm39) |
A185T |
probably damaging |
Het |
Grm8 |
T |
C |
6: 27,363,803 (GRCm39) |
R571G |
probably benign |
Het |
Hjv |
G |
A |
3: 96,435,488 (GRCm39) |
D249N |
possibly damaging |
Het |
Hsp90b1 |
T |
C |
10: 86,531,603 (GRCm39) |
|
probably null |
Het |
Ift70a1 |
G |
T |
2: 75,810,976 (GRCm39) |
T369K |
probably benign |
Het |
Ighv1-75 |
T |
G |
12: 115,797,878 (GRCm39) |
|
probably benign |
Het |
Ikzf1 |
A |
G |
11: 11,650,216 (GRCm39) |
|
probably benign |
Het |
Itprid2 |
A |
G |
2: 79,490,629 (GRCm39) |
N943S |
probably benign |
Het |
Kdm4d |
A |
G |
9: 14,374,860 (GRCm39) |
W333R |
probably damaging |
Het |
Lama3 |
A |
T |
18: 12,624,533 (GRCm39) |
N1426I |
probably damaging |
Het |
Lmbrd1 |
A |
G |
1: 24,743,959 (GRCm39) |
Y119C |
probably damaging |
Het |
Mctp1 |
A |
G |
13: 77,172,976 (GRCm39) |
Y884C |
probably damaging |
Het |
Naip6 |
G |
T |
13: 100,439,748 (GRCm39) |
P340T |
possibly damaging |
Het |
Nfkbib |
G |
T |
7: 28,461,528 (GRCm39) |
H70N |
probably damaging |
Het |
Nol4 |
A |
T |
18: 22,903,926 (GRCm39) |
|
probably benign |
Het |
Obscn |
C |
T |
11: 58,891,914 (GRCm39) |
A6873T |
probably benign |
Het |
Or2ag1 |
A |
G |
7: 106,313,232 (GRCm39) |
S219P |
probably benign |
Het |
Or51b4 |
T |
A |
7: 103,530,587 (GRCm39) |
I288F |
probably benign |
Het |
Or6x1 |
T |
A |
9: 40,098,823 (GRCm39) |
N137K |
probably benign |
Het |
Paqr6 |
A |
G |
3: 88,273,491 (GRCm39) |
Y136C |
probably damaging |
Het |
Pcdh18 |
T |
A |
3: 49,710,493 (GRCm39) |
D274V |
probably damaging |
Het |
Phip |
A |
G |
9: 82,768,745 (GRCm39) |
Y1196H |
probably damaging |
Het |
Prc1 |
T |
C |
7: 79,959,190 (GRCm39) |
L345S |
probably damaging |
Het |
Smpdl3a |
A |
G |
10: 57,685,276 (GRCm39) |
|
probably benign |
Het |
Tac1 |
G |
T |
6: 7,559,119 (GRCm39) |
|
probably null |
Het |
Tasor |
T |
A |
14: 27,198,624 (GRCm39) |
S1319T |
possibly damaging |
Het |
Tg |
A |
G |
15: 66,636,140 (GRCm39) |
T576A |
probably benign |
Het |
Thbs2 |
A |
T |
17: 14,896,578 (GRCm39) |
D770E |
probably damaging |
Het |
Tmem117 |
T |
C |
15: 94,909,331 (GRCm39) |
V248A |
possibly damaging |
Het |
Trpm8 |
T |
C |
1: 88,255,972 (GRCm39) |
I209T |
possibly damaging |
Het |
Wrap53 |
A |
G |
11: 69,454,417 (GRCm39) |
F244L |
probably damaging |
Het |
Wrap73 |
A |
T |
4: 154,233,237 (GRCm39) |
Q137L |
probably benign |
Het |
Zfhx4 |
A |
T |
3: 5,467,434 (GRCm39) |
T2531S |
probably benign |
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 |
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 |
2015-04-16 |