Incidental Mutation 'R3801:Crnkl1'
ID |
272960 |
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 |
040760-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
R3801 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
145759402-145776620 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 145761715 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 614
(D614G)
|
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: D614G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000001818 Gene: ENSMUSG00000001767 AA Change: D614G
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700011L22Rik |
C |
T |
8: 79,974,922 (GRCm39) |
E54K |
probably benign |
Het |
Als2 |
A |
C |
1: 59,206,358 (GRCm39) |
M1634R |
probably damaging |
Het |
Ankfy1 |
T |
C |
11: 72,640,246 (GRCm39) |
S531P |
probably benign |
Het |
Atp6v1e1 |
A |
G |
6: 120,778,020 (GRCm39) |
Y172H |
probably benign |
Het |
Brd1 |
C |
T |
15: 88,601,243 (GRCm39) |
V464M |
probably damaging |
Het |
Btaf1 |
A |
T |
19: 36,963,948 (GRCm39) |
T840S |
probably benign |
Het |
Btaf1 |
A |
T |
19: 36,966,373 (GRCm39) |
H1047L |
probably benign |
Het |
Cacnb2 |
A |
G |
2: 14,829,074 (GRCm39) |
D3G |
possibly damaging |
Het |
Capn13 |
G |
A |
17: 73,646,396 (GRCm39) |
P339L |
probably benign |
Het |
Cgrrf1 |
G |
T |
14: 47,069,820 (GRCm39) |
G30C |
probably damaging |
Het |
Cyp2c23 |
C |
T |
19: 43,995,478 (GRCm39) |
V430I |
probably benign |
Het |
Dazl |
G |
A |
17: 50,588,309 (GRCm39) |
R289W |
probably benign |
Het |
Dsg1b |
C |
T |
18: 20,523,260 (GRCm39) |
P96S |
probably damaging |
Het |
Dusp14 |
A |
G |
11: 83,939,535 (GRCm39) |
S169P |
possibly damaging |
Het |
Egfem1 |
A |
G |
3: 29,206,075 (GRCm39) |
D91G |
probably benign |
Het |
Eif1 |
A |
G |
11: 100,211,650 (GRCm39) |
K95E |
probably damaging |
Het |
Fap |
C |
T |
2: 62,376,994 (GRCm39) |
V191I |
probably benign |
Het |
Flnc |
T |
C |
6: 29,447,403 (GRCm39) |
Y1069H |
probably damaging |
Het |
Fndc7 |
T |
C |
3: 108,776,464 (GRCm39) |
T526A |
possibly damaging |
Het |
Fras1 |
A |
T |
5: 96,881,791 (GRCm39) |
T2508S |
probably benign |
Het |
Gast |
T |
C |
11: 100,227,636 (GRCm39) |
S73P |
probably damaging |
Het |
Grap2 |
A |
G |
15: 80,507,947 (GRCm39) |
T4A |
possibly damaging |
Het |
Grm8 |
T |
G |
6: 28,125,635 (GRCm39) |
N164H |
possibly damaging |
Het |
Hyal5 |
A |
T |
6: 24,876,523 (GRCm39) |
H132L |
probably benign |
Het |
Iqcm |
C |
A |
8: 76,396,021 (GRCm39) |
T188K |
possibly damaging |
Het |
Kank4 |
A |
G |
4: 98,668,370 (GRCm39) |
S26P |
probably damaging |
Het |
Lipo3 |
C |
T |
19: 33,762,257 (GRCm39) |
C80Y |
probably damaging |
Het |
Lrrk2 |
A |
G |
15: 91,621,314 (GRCm39) |
R963G |
probably benign |
Het |
Lrtm2 |
G |
A |
6: 119,294,444 (GRCm39) |
T229I |
probably damaging |
Het |
Mb21d2 |
A |
T |
16: 28,646,755 (GRCm39) |
D406E |
possibly damaging |
Het |
Meikin |
T |
A |
11: 54,290,697 (GRCm39) |
|
probably null |
Het |
Mybl1 |
A |
T |
1: 9,743,439 (GRCm39) |
F538I |
probably damaging |
Het |
Nectin2 |
T |
C |
7: 19,451,561 (GRCm39) |
D491G |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,450,347 (GRCm39) |
D511G |
probably null |
Het |
Nid2 |
T |
C |
14: 19,860,065 (GRCm39) |
C1328R |
probably damaging |
Het |
Nlrp1a |
T |
A |
11: 71,013,529 (GRCm39) |
M574L |
probably benign |
Het |
Nrap |
C |
T |
19: 56,310,211 (GRCm39) |
D1595N |
probably damaging |
Het |
Nrg3 |
G |
A |
14: 38,098,391 (GRCm39) |
P496S |
probably damaging |
Het |
Or4k41 |
A |
T |
2: 111,279,910 (GRCm39) |
I142F |
probably benign |
Het |
Pak3 |
G |
A |
X: 142,492,727 (GRCm39) |
V87I |
probably damaging |
Het |
Phf8 |
T |
C |
X: 150,355,572 (GRCm39) |
S512P |
possibly damaging |
Het |
Phkb |
G |
T |
8: 86,648,858 (GRCm39) |
E225* |
probably null |
Het |
Plaa |
T |
C |
4: 94,458,125 (GRCm39) |
D615G |
probably damaging |
Het |
Prdm12 |
A |
G |
2: 31,541,959 (GRCm39) |
K223E |
probably damaging |
Het |
Prkd1 |
C |
A |
12: 50,430,205 (GRCm39) |
R634L |
possibly damaging |
Het |
Rassf3 |
T |
A |
10: 121,250,271 (GRCm39) |
I181F |
possibly damaging |
Het |
Samd8 |
G |
A |
14: 21,825,133 (GRCm39) |
V30M |
probably damaging |
Het |
Sema4f |
A |
T |
6: 82,895,608 (GRCm39) |
H308Q |
possibly damaging |
Het |
Skint4 |
G |
T |
4: 111,975,378 (GRCm39) |
V113L |
probably damaging |
Het |
Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
Slpi |
A |
G |
2: 164,198,158 (GRCm39) |
L12P |
probably damaging |
Het |
Smco1 |
A |
G |
16: 32,092,716 (GRCm39) |
Y129C |
probably benign |
Het |
Spag17 |
A |
G |
3: 99,961,169 (GRCm39) |
K985R |
possibly damaging |
Het |
Stc1 |
T |
C |
14: 69,275,924 (GRCm39) |
I239T |
probably benign |
Het |
Suclg2 |
A |
T |
6: 95,474,649 (GRCm39) |
I372N |
probably damaging |
Het |
Tmed4 |
C |
A |
11: 6,224,233 (GRCm39) |
V80F |
probably damaging |
Het |
Tnpo2 |
T |
A |
8: 85,781,800 (GRCm39) |
|
probably null |
Het |
Top1 |
A |
G |
2: 160,544,688 (GRCm39) |
H268R |
probably damaging |
Het |
Triobp |
A |
T |
15: 78,857,900 (GRCm39) |
Q1167L |
probably benign |
Het |
Txndc16 |
G |
A |
14: 45,388,809 (GRCm39) |
P536L |
possibly damaging |
Het |
Usp13 |
C |
T |
3: 32,935,657 (GRCm39) |
A360V |
possibly damaging |
Het |
Vhl |
G |
A |
6: 113,606,423 (GRCm39) |
V147I |
probably benign |
Het |
Vldlr |
A |
T |
19: 27,195,021 (GRCm39) |
T3S |
probably damaging |
Het |
Vps54 |
T |
A |
11: 21,218,832 (GRCm39) |
D130E |
probably benign |
Het |
Zfp808 |
T |
A |
13: 62,319,897 (GRCm39) |
H375Q |
probably damaging |
Het |
Zfp87 |
A |
T |
13: 67,669,334 (GRCm39) |
N37K |
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 |
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 |
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'- AGCCTCAGGATTGGTTTCCC -3'
(R):5'- TTGAGTTATCGTCTGGGAAAGAAGG -3'
Sequencing Primer
(F):5'- GGTTTCCCTCTATAAGGTGAAGCTC -3'
(R):5'- GAAGTGTGGCTAAATGCAGAC -3'
|
Posted On |
2015-03-25 |