Incidental Mutation 'IGL03131:Crnkl1'
ID |
410307 |
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 # |
IGL03131
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
145759402-145776620 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 145774178 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 95
(K95R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001818
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001818]
[ENSMUST00000116398]
[ENSMUST00000118002]
[ENSMUST00000126415]
[ENSMUST00000130168]
[ENSMUST00000133433]
[ENSMUST00000138774]
[ENSMUST00000152515]
|
AlphaFold |
P63154 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001818
AA Change: K95R
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000001818 Gene: ENSMUSG00000001767 AA Change: K95R
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: ENSMUST00000116398
|
SMART Domains |
Protein: ENSMUSP00000112099 Gene: ENSMUSG00000037143
Domain | Start | End | E-Value | Type |
SCOP:d1b87a_
|
183 |
237 |
1e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118002
|
SMART Domains |
Protein: ENSMUSP00000113529 Gene: ENSMUSG00000037143
Domain | Start | End | E-Value | Type |
transmembrane domain
|
133 |
155 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126415
|
SMART Domains |
Protein: ENSMUSP00000118626 Gene: ENSMUSG00000037143
Domain | Start | End | E-Value | Type |
SCOP:d1b87a_
|
183 |
244 |
1e-5 |
SMART |
low complexity region
|
355 |
368 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130168
|
SMART Domains |
Protein: ENSMUSP00000121294 Gene: ENSMUSG00000037143
Domain | Start | End | E-Value | Type |
transmembrane domain
|
133 |
155 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133433
|
SMART Domains |
Protein: ENSMUSP00000118411 Gene: ENSMUSG00000037143
Domain | Start | End | E-Value | Type |
Pfam:DUF4821
|
15 |
272 |
1.1e-96 |
PFAM |
low complexity region
|
355 |
368 |
N/A |
INTRINSIC |
low complexity region
|
661 |
672 |
N/A |
INTRINSIC |
low complexity region
|
1172 |
1182 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145425
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147904
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138774
|
SMART Domains |
Protein: ENSMUSP00000120838 Gene: ENSMUSG00000037143
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
27 |
N/A |
INTRINSIC |
transmembrane domain
|
49 |
71 |
N/A |
INTRINSIC |
SCOP:d1b87a_
|
99 |
153 |
2e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152515
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432M17Rik |
A |
C |
3: 121,473,251 (GRCm39) |
R135S |
unknown |
Het |
A1bg |
T |
C |
15: 60,791,605 (GRCm39) |
Y277C |
probably damaging |
Het |
Abca12 |
A |
T |
1: 71,385,861 (GRCm39) |
F252L |
probably benign |
Het |
Abcd3 |
A |
T |
3: 121,575,640 (GRCm39) |
|
probably benign |
Het |
Acvr2b |
C |
A |
9: 119,260,350 (GRCm39) |
F364L |
possibly damaging |
Het |
Adamts12 |
T |
C |
15: 11,345,650 (GRCm39) |
C1564R |
probably damaging |
Het |
Agap3 |
A |
G |
5: 24,682,130 (GRCm39) |
T392A |
probably benign |
Het |
Ano1 |
A |
G |
7: 144,157,322 (GRCm39) |
F767L |
possibly damaging |
Het |
Atg10 |
C |
A |
13: 91,085,412 (GRCm39) |
R179I |
probably null |
Het |
Bsph1 |
A |
T |
7: 13,207,012 (GRCm39) |
K129N |
probably damaging |
Het |
Calml4 |
A |
G |
9: 62,782,765 (GRCm39) |
D77G |
probably benign |
Het |
Cc2d1a |
T |
A |
8: 84,870,056 (GRCm39) |
K153M |
probably damaging |
Het |
Col4a2 |
G |
A |
8: 11,475,979 (GRCm39) |
V672I |
probably benign |
Het |
Crtap |
T |
C |
9: 114,209,072 (GRCm39) |
D324G |
possibly damaging |
Het |
Csmd1 |
C |
T |
8: 16,138,231 (GRCm39) |
G1607E |
probably damaging |
Het |
Dcbld2 |
T |
G |
16: 58,272,051 (GRCm39) |
I369R |
probably benign |
Het |
Dmc1 |
T |
A |
15: 79,452,892 (GRCm39) |
I246L |
probably benign |
Het |
Dock1 |
G |
T |
7: 134,475,912 (GRCm39) |
V896L |
possibly damaging |
Het |
Eftud2 |
G |
A |
11: 102,761,009 (GRCm39) |
T112M |
probably damaging |
Het |
F5 |
A |
T |
1: 163,989,388 (GRCm39) |
I97F |
possibly damaging |
Het |
Fasn |
C |
T |
11: 120,701,550 (GRCm39) |
V1939M |
possibly damaging |
Het |
Gpatch2l |
T |
C |
12: 86,328,285 (GRCm39) |
V414A |
probably benign |
Het |
Gpd2 |
T |
C |
2: 57,228,855 (GRCm39) |
|
probably benign |
Het |
Gria4 |
T |
G |
9: 4,432,876 (GRCm39) |
N769T |
probably damaging |
Het |
Gtf3c2 |
A |
T |
5: 31,314,964 (GRCm39) |
F885I |
probably damaging |
Het |
Ifi209 |
C |
T |
1: 173,468,800 (GRCm39) |
T210I |
possibly damaging |
Het |
Kmt2c |
A |
G |
5: 25,520,359 (GRCm39) |
V1917A |
probably benign |
Het |
Mad1l1 |
G |
A |
5: 140,293,458 (GRCm39) |
A120V |
probably benign |
Het |
Mef2c |
T |
C |
13: 83,810,494 (GRCm39) |
I382T |
probably damaging |
Het |
Ms4a14 |
A |
T |
19: 11,285,056 (GRCm39) |
L171I |
probably benign |
Het |
Myf6 |
T |
A |
10: 107,330,132 (GRCm39) |
Q145L |
probably damaging |
Het |
Myh3 |
G |
A |
11: 66,981,935 (GRCm39) |
|
probably benign |
Het |
Nbas |
A |
G |
12: 13,329,417 (GRCm39) |
I121V |
probably benign |
Het |
Ncoa2 |
A |
T |
1: 13,247,398 (GRCm39) |
S342T |
probably damaging |
Het |
Nlrp1b |
C |
T |
11: 71,052,741 (GRCm39) |
D896N |
possibly damaging |
Het |
Prss41 |
A |
G |
17: 24,061,498 (GRCm39) |
Y98H |
probably benign |
Het |
Ptpn13 |
A |
T |
5: 103,665,425 (GRCm39) |
T450S |
probably benign |
Het |
Rab39 |
G |
A |
9: 53,597,861 (GRCm39) |
R135C |
probably damaging |
Het |
Radil |
A |
G |
5: 142,481,097 (GRCm39) |
V570A |
probably damaging |
Het |
Sbno1 |
C |
T |
5: 124,526,668 (GRCm39) |
R949Q |
probably damaging |
Het |
Sec61a2 |
T |
A |
2: 5,887,689 (GRCm39) |
K98* |
probably null |
Het |
Serbp1 |
T |
A |
6: 67,258,807 (GRCm39) |
|
probably null |
Het |
Serpinb3c |
G |
T |
1: 107,199,457 (GRCm39) |
Q355K |
probably benign |
Het |
Slc34a3 |
T |
G |
2: 25,121,246 (GRCm39) |
D307A |
probably benign |
Het |
Smarcad1 |
T |
A |
6: 65,051,937 (GRCm39) |
S357T |
probably damaging |
Het |
Spag17 |
G |
A |
3: 99,918,075 (GRCm39) |
D353N |
possibly damaging |
Het |
Spdl1 |
T |
A |
11: 34,721,592 (GRCm39) |
Q39L |
possibly damaging |
Het |
Syne2 |
A |
C |
12: 76,104,264 (GRCm39) |
Q5485P |
probably damaging |
Het |
Synj1 |
C |
A |
16: 90,785,056 (GRCm39) |
V227F |
probably damaging |
Het |
Syt12 |
T |
C |
19: 4,506,882 (GRCm39) |
T88A |
probably benign |
Het |
Tasor |
C |
T |
14: 27,183,136 (GRCm39) |
Q532* |
probably null |
Het |
Tlr12 |
A |
G |
4: 128,509,670 (GRCm39) |
F860S |
probably damaging |
Het |
Trdn |
C |
A |
10: 33,274,410 (GRCm39) |
S461* |
probably null |
Het |
Trip4 |
G |
A |
9: 65,764,727 (GRCm39) |
P413S |
probably benign |
Het |
Wdr17 |
A |
G |
8: 55,149,302 (GRCm39) |
|
probably null |
Het |
Wnt9a |
T |
C |
11: 59,221,855 (GRCm39) |
L251P |
probably damaging |
Het |
Xrcc1 |
A |
T |
7: 24,272,719 (GRCm39) |
K618* |
probably null |
Het |
Zfp759 |
T |
C |
13: 67,286,728 (GRCm39) |
L93P |
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 |
IGL02877:Crnkl1
|
APN |
2 |
145,762,591 (GRCm39) |
nonsense |
probably null |
|
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 |
2016-08-02 |