Incidental Mutation 'R2973:Crnkl1'
ID |
255263 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crnkl1
|
Ensembl Gene |
ENSMUSG00000001767 |
Gene Name |
crooked neck pre-mRNA splicing factor 1 |
Synonyms |
crn, 5730590A01Rik, 1200013P10Rik |
MMRRC Submission |
040526-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
R2973 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
145759402-145776620 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 145774181 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 94
(L94P)
|
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: L94P
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000001818 Gene: ENSMUSG00000001767 AA Change: L94P
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000147904
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145425
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152515
|
Meta Mutation Damage Score |
0.4253 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
98% (44/45) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
G |
10: 79,844,801 (GRCm39) |
F1508V |
probably damaging |
Het |
Angptl7 |
T |
A |
4: 148,584,671 (GRCm39) |
K26* |
probably null |
Het |
Aoc1l1 |
A |
G |
6: 48,953,358 (GRCm39) |
T428A |
probably benign |
Het |
BC048507 |
T |
C |
13: 68,011,749 (GRCm39) |
I42T |
probably benign |
Het |
Cald1 |
A |
G |
6: 34,734,931 (GRCm39) |
|
probably benign |
Het |
Ces5a |
A |
G |
8: 94,255,132 (GRCm39) |
F187S |
probably damaging |
Het |
Chd3 |
A |
G |
11: 69,251,442 (GRCm39) |
Y530H |
probably damaging |
Het |
Cst9 |
G |
T |
2: 148,677,145 (GRCm39) |
|
probably null |
Het |
Cstdc2 |
T |
C |
2: 148,692,706 (GRCm39) |
D32G |
probably benign |
Het |
D930007J09Rik |
C |
T |
13: 32,986,742 (GRCm39) |
|
probably benign |
Het |
Dcaf10 |
T |
C |
4: 45,373,957 (GRCm39) |
S461P |
probably benign |
Het |
Dhx36 |
T |
A |
3: 62,402,916 (GRCm39) |
N279Y |
probably benign |
Het |
Dhx36 |
C |
G |
3: 62,402,919 (GRCm39) |
G278R |
possibly damaging |
Het |
Eps8l3 |
T |
C |
3: 107,798,644 (GRCm39) |
I510T |
probably damaging |
Het |
Gab2 |
A |
G |
7: 96,872,759 (GRCm39) |
E54G |
probably benign |
Het |
Gsdme |
A |
G |
6: 50,206,304 (GRCm39) |
C180R |
probably damaging |
Het |
Hesx1 |
A |
G |
14: 26,722,599 (GRCm39) |
|
probably benign |
Het |
Il5ra |
G |
A |
6: 106,718,196 (GRCm39) |
P86L |
probably benign |
Het |
Jakmip1 |
A |
G |
5: 37,248,871 (GRCm39) |
K177R |
probably damaging |
Het |
Larp4b |
T |
C |
13: 9,216,347 (GRCm39) |
|
probably benign |
Het |
Lrrc42 |
A |
T |
4: 107,096,311 (GRCm39) |
D40E |
probably damaging |
Het |
Mefv |
G |
A |
16: 3,533,558 (GRCm39) |
R238* |
probably null |
Het |
Mroh9 |
A |
T |
1: 162,884,338 (GRCm39) |
M400K |
probably damaging |
Het |
Or12j2 |
T |
G |
7: 139,916,300 (GRCm39) |
F175C |
probably damaging |
Het |
Or5ac22 |
A |
C |
16: 59,135,767 (GRCm39) |
M1R |
probably null |
Het |
Or5d37 |
A |
G |
2: 87,923,458 (GRCm39) |
L274P |
probably benign |
Het |
Plec |
C |
G |
15: 76,072,961 (GRCm39) |
G631R |
probably damaging |
Het |
Polr3b |
A |
G |
10: 84,464,144 (GRCm39) |
K35E |
probably benign |
Het |
Ppef2 |
T |
C |
5: 92,386,953 (GRCm39) |
E328G |
probably benign |
Het |
Rogdi |
G |
T |
16: 4,829,526 (GRCm39) |
Q90K |
probably damaging |
Het |
Rtn1 |
C |
A |
12: 72,270,163 (GRCm39) |
R116L |
probably damaging |
Het |
Septin14 |
T |
C |
5: 129,776,086 (GRCm39) |
H31R |
probably benign |
Het |
Serpinb9e |
T |
A |
13: 33,439,126 (GRCm39) |
V184E |
probably benign |
Het |
Slc10a5 |
A |
T |
3: 10,399,517 (GRCm39) |
I381N |
probably damaging |
Het |
Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
Sptlc3 |
A |
G |
2: 139,431,581 (GRCm39) |
T368A |
probably damaging |
Het |
Tm9sf1 |
T |
A |
14: 55,878,571 (GRCm39) |
T274S |
probably benign |
Het |
Tpgs1 |
A |
G |
10: 79,505,449 (GRCm39) |
E69G |
probably damaging |
Het |
Trpv5 |
T |
C |
6: 41,630,165 (GRCm39) |
S642G |
possibly damaging |
Het |
Ttn |
A |
C |
2: 76,632,661 (GRCm39) |
I12385S |
probably damaging |
Het |
Ube2e2 |
T |
C |
14: 18,630,321 (GRCm38) |
D137G |
possibly damaging |
Het |
Ubr4 |
T |
C |
4: 139,133,847 (GRCm39) |
Y748H |
probably benign |
Het |
Ugt8a |
T |
C |
3: 125,708,957 (GRCm39) |
H51R |
probably benign |
Het |
Vcp |
T |
A |
4: 42,996,315 (GRCm39) |
I16F |
probably damaging |
Het |
Vmn2r117 |
A |
G |
17: 23,678,830 (GRCm39) |
V798A |
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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TATGTAGACCCTCCCGAGACAC -3'
(R):5'- TGCTGTTCCTTGGCATCTAG -3'
Sequencing Primer
(F):5'- GAGACACTCCACAACCGTCCTTC -3'
(R):5'- CCTTGGCATCTAGGATATAATTTC -3'
|
Posted On |
2014-12-29 |