Incidental Mutation 'R6564:Crnkl1'
| ID |
522301 |
| 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 |
044688-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R6564 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
145759402-145776620 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 145770165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 226
(E226V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001818
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001818]
|
| AlphaFold |
P63154 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001818
AA Change: E226V
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000001818
Gene: ENSMUSG00000001767
AA Change: E226V
| 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 |
noncoding transcript
Transcript: ENSMUST00000145425
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147904
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.9%
|
| Validation Efficiency |
98% (56/57) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
A |
13: 119,622,613 (GRCm39) |
|
probably null |
Het |
| 4931429L15Rik |
C |
A |
9: 46,218,202 (GRCm39) |
D179Y |
probably damaging |
Het |
| Abca1 |
A |
T |
4: 53,034,031 (GRCm39) |
L2233Q |
possibly damaging |
Het |
| Abca12 |
T |
A |
1: 71,349,009 (GRCm39) |
E834V |
possibly damaging |
Het |
| Abcc9 |
T |
C |
6: 142,548,834 (GRCm39) |
Y1318C |
probably damaging |
Het |
| Adam15 |
C |
A |
3: 89,254,519 (GRCm39) |
R121L |
possibly damaging |
Het |
| Afdn |
T |
A |
17: 14,116,351 (GRCm39) |
M1588K |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,078,491 (GRCm39) |
S1849P |
probably damaging |
Het |
| Aoc1l1 |
T |
C |
6: 48,954,509 (GRCm39) |
V549A |
probably benign |
Het |
| Bag6 |
T |
C |
17: 35,359,347 (GRCm39) |
S213P |
probably damaging |
Het |
| Bpifb9a |
T |
C |
2: 154,102,098 (GRCm39) |
V65A |
probably benign |
Het |
| Chn1 |
T |
A |
2: 73,448,385 (GRCm39) |
I203F |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,797,442 (GRCm39) |
E1302G |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,367,891 (GRCm39) |
A2759S |
probably benign |
Het |
| Dtx1 |
T |
A |
5: 120,833,082 (GRCm39) |
T119S |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Ezr |
C |
T |
17: 7,010,246 (GRCm39) |
V268M |
probably damaging |
Het |
| Fbxl15 |
T |
C |
19: 46,317,777 (GRCm39) |
V153A |
probably damaging |
Het |
| Fkbpl |
C |
A |
17: 34,865,240 (GRCm39) |
A336E |
probably benign |
Het |
| Gsg1l2 |
A |
G |
11: 67,677,330 (GRCm39) |
T200A |
possibly damaging |
Het |
| H2ax |
T |
C |
9: 44,246,209 (GRCm39) |
Y51H |
probably damaging |
Het |
| Ifi213 |
A |
C |
1: 173,422,862 (GRCm39) |
M1R |
probably null |
Het |
| Kcnt1 |
A |
C |
2: 25,801,063 (GRCm39) |
D1045A |
probably benign |
Het |
| Kdm4a |
C |
A |
4: 118,034,636 (GRCm39) |
A32S |
probably benign |
Het |
| Klkb1 |
A |
T |
8: 45,726,671 (GRCm39) |
V444E |
probably damaging |
Het |
| Mccc1 |
T |
C |
3: 36,030,825 (GRCm39) |
T414A |
probably damaging |
Het |
| Miga1 |
A |
C |
3: 151,990,959 (GRCm39) |
N367K |
probably damaging |
Het |
| Mmp7 |
A |
G |
9: 7,695,185 (GRCm39) |
D49G |
probably benign |
Het |
| Nlrp1a |
A |
G |
11: 71,014,398 (GRCm39) |
L284P |
probably damaging |
Het |
| Or7g33 |
G |
A |
9: 19,448,506 (GRCm39) |
T240I |
possibly damaging |
Het |
| Or9s15 |
T |
C |
1: 92,524,285 (GRCm39) |
S15P |
probably benign |
Het |
| Pbld1 |
T |
A |
10: 62,907,806 (GRCm39) |
I224N |
possibly damaging |
Het |
| Pih1d1 |
A |
T |
7: 44,809,243 (GRCm39) |
R276W |
probably damaging |
Het |
| Plekhg1 |
G |
T |
10: 3,914,153 (GRCm39) |
V1292L |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,171,285 (GRCm39) |
|
probably null |
Het |
| Rbm6 |
T |
C |
9: 107,710,697 (GRCm39) |
Y498C |
probably damaging |
Het |
| Reps1 |
T |
A |
10: 17,998,140 (GRCm39) |
|
probably null |
Het |
| Ruvbl1 |
T |
A |
6: 88,456,208 (GRCm39) |
I154N |
possibly damaging |
Het |
| Slc4a5 |
T |
G |
6: 83,257,042 (GRCm39) |
F616V |
possibly damaging |
Het |
| Spag5 |
A |
T |
11: 78,206,401 (GRCm39) |
T798S |
probably damaging |
Het |
| Spam1 |
T |
A |
6: 24,796,355 (GRCm39) |
I102K |
possibly damaging |
Het |
| Sptbn2 |
C |
A |
19: 4,782,052 (GRCm39) |
F430L |
probably damaging |
Het |
| Svs3a |
T |
A |
2: 164,131,270 (GRCm39) |
I21K |
probably damaging |
Het |
| Tet3 |
T |
A |
6: 83,363,052 (GRCm39) |
I842L |
possibly damaging |
Het |
| Tlr2 |
T |
A |
3: 83,745,002 (GRCm39) |
K360N |
probably benign |
Het |
| Tmem45b |
C |
G |
9: 31,339,301 (GRCm39) |
W138S |
probably damaging |
Het |
| Tpgs2 |
T |
C |
18: 25,291,344 (GRCm39) |
E40G |
probably damaging |
Het |
| Traj40 |
T |
C |
14: 54,415,399 (GRCm39) |
|
probably benign |
Het |
| Trpm5 |
A |
G |
7: 142,626,507 (GRCm39) |
S125P |
probably damaging |
Het |
| Ttc3 |
G |
T |
16: 94,243,470 (GRCm39) |
C1158F |
probably damaging |
Het |
| Tubg1 |
T |
C |
11: 101,011,715 (GRCm39) |
I74T |
probably damaging |
Het |
| Vav2 |
A |
T |
2: 27,169,197 (GRCm39) |
|
probably null |
Het |
| Wbp4 |
G |
T |
14: 79,704,868 (GRCm39) |
H201N |
probably damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,485,499 (GRCm39) |
S821P |
probably benign |
Het |
| Wsb2 |
A |
T |
5: 117,508,625 (GRCm39) |
|
probably null |
Het |
| Zic5 |
A |
G |
14: 122,696,833 (GRCm39) |
L594P |
unknown |
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 |
|
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 |
|
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'- TCCAATGTAGAGCTCAGCAATACATG -3'
(R):5'- GTTGAACCTTTGGCATGTGC -3'
Sequencing Primer
(F):5'- GCATTCAGTTCCGTATTAAATTATGG -3'
(R):5'- CATGTGCTGTGCATGCGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation