Incidental Mutation 'R3861:Cramp1'
ID |
276373 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cramp1
|
Ensembl Gene |
ENSMUSG00000038002 |
Gene Name |
cramped chromatin regulator 1 |
Synonyms |
5830477H08Rik, Tce4, Cramp1l |
MMRRC Submission |
040788-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3861 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
25180200-25234762 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 25216588 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073060
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073337]
|
AlphaFold |
Q6PG95 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073337
|
SMART Domains |
Protein: ENSMUSP00000073060 Gene: ENSMUSG00000038002
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
20 |
N/A |
INTRINSIC |
low complexity region
|
29 |
43 |
N/A |
INTRINSIC |
low complexity region
|
51 |
64 |
N/A |
INTRINSIC |
low complexity region
|
100 |
126 |
N/A |
INTRINSIC |
low complexity region
|
134 |
147 |
N/A |
INTRINSIC |
SANT
|
159 |
219 |
3.68e-3 |
SMART |
low complexity region
|
479 |
503 |
N/A |
INTRINSIC |
low complexity region
|
548 |
562 |
N/A |
INTRINSIC |
low complexity region
|
792 |
803 |
N/A |
INTRINSIC |
low complexity region
|
833 |
845 |
N/A |
INTRINSIC |
low complexity region
|
889 |
903 |
N/A |
INTRINSIC |
low complexity region
|
1069 |
1086 |
N/A |
INTRINSIC |
low complexity region
|
1113 |
1124 |
N/A |
INTRINSIC |
low complexity region
|
1141 |
1156 |
N/A |
INTRINSIC |
low complexity region
|
1171 |
1185 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (55/55) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit cleft palate. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730507C01Rik |
G |
A |
12: 18,583,411 (GRCm39) |
S157N |
probably benign |
Het |
A830018L16Rik |
T |
C |
1: 11,658,778 (GRCm39) |
|
probably benign |
Het |
Akip1 |
C |
T |
7: 109,306,613 (GRCm39) |
|
probably benign |
Het |
Anxa5 |
T |
C |
3: 36,504,807 (GRCm39) |
T252A |
probably benign |
Het |
Arhgef10l |
A |
G |
4: 140,242,798 (GRCm39) |
F1072L |
possibly damaging |
Het |
Armc1 |
C |
T |
3: 19,189,196 (GRCm39) |
R186Q |
probably damaging |
Het |
Atxn2l |
A |
T |
7: 126,101,123 (GRCm39) |
|
probably null |
Het |
Cadps2 |
A |
G |
6: 23,355,860 (GRCm39) |
I849T |
probably damaging |
Het |
Ccdc28a |
T |
A |
10: 18,100,743 (GRCm39) |
Q28L |
probably damaging |
Het |
Cdh4 |
T |
A |
2: 179,515,890 (GRCm39) |
V356D |
probably damaging |
Het |
Chd8 |
T |
A |
14: 52,474,578 (GRCm39) |
Q151L |
probably benign |
Het |
Chgb |
T |
A |
2: 132,635,064 (GRCm39) |
H335Q |
probably damaging |
Het |
Col19a1 |
G |
A |
1: 24,365,098 (GRCm39) |
P506S |
probably damaging |
Het |
Col5a2 |
T |
C |
1: 45,419,397 (GRCm39) |
T1228A |
probably damaging |
Het |
Cpxm2 |
A |
G |
7: 131,656,648 (GRCm39) |
V538A |
probably benign |
Het |
Cttnbp2 |
T |
C |
6: 18,423,832 (GRCm39) |
R831G |
probably benign |
Het |
Cyp4f17 |
A |
G |
17: 32,747,078 (GRCm39) |
D436G |
probably damaging |
Het |
Dcaf6 |
A |
T |
1: 165,256,838 (GRCm39) |
N48K |
probably damaging |
Het |
Ddx50 |
C |
A |
10: 62,478,725 (GRCm39) |
V154L |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 65,943,820 (GRCm39) |
|
probably benign |
Het |
Dnm3 |
T |
A |
1: 162,138,974 (GRCm39) |
I395L |
possibly damaging |
Het |
Elp2 |
C |
T |
18: 24,739,977 (GRCm39) |
R68C |
probably benign |
Het |
Frg1 |
A |
T |
8: 41,860,820 (GRCm39) |
|
probably null |
Het |
Fsip2 |
G |
T |
2: 82,815,120 (GRCm39) |
D3618Y |
probably damaging |
Het |
Gabra2 |
T |
C |
5: 71,130,886 (GRCm39) |
D314G |
probably damaging |
Het |
Gramd1a |
A |
C |
7: 30,835,365 (GRCm39) |
D407E |
possibly damaging |
Het |
Grm5 |
T |
A |
7: 87,779,202 (GRCm39) |
S881T |
possibly damaging |
Het |
Ikbkb |
T |
A |
8: 23,168,852 (GRCm39) |
I216F |
possibly damaging |
Het |
Kif3a |
T |
C |
11: 53,488,805 (GRCm39) |
V634A |
probably benign |
Het |
Ltbp1 |
A |
T |
17: 75,666,333 (GRCm39) |
Y1342F |
possibly damaging |
Het |
Mia2 |
G |
T |
12: 59,155,807 (GRCm39) |
V508L |
probably benign |
Het |
Mtus2 |
C |
T |
5: 148,250,223 (GRCm39) |
T155M |
probably damaging |
Het |
Napepld |
A |
T |
5: 21,888,287 (GRCm39) |
V54E |
probably benign |
Het |
Nlrc4 |
T |
C |
17: 74,752,616 (GRCm39) |
E589G |
probably benign |
Het |
Nphp3 |
G |
T |
9: 103,916,525 (GRCm39) |
|
probably benign |
Het |
Nr2f1 |
T |
A |
13: 78,343,794 (GRCm39) |
R10* |
probably null |
Het |
Nsfl1c |
C |
A |
2: 151,352,824 (GRCm39) |
|
probably null |
Het |
Or14a258 |
A |
G |
7: 86,035,331 (GRCm39) |
V179A |
possibly damaging |
Het |
Pcdhgc3 |
A |
G |
18: 37,941,581 (GRCm39) |
T661A |
probably damaging |
Het |
Pdzrn3 |
A |
G |
6: 101,149,332 (GRCm39) |
V332A |
possibly damaging |
Het |
Pip4p2 |
A |
G |
4: 14,902,506 (GRCm39) |
N169S |
probably damaging |
Het |
Pkhd1 |
C |
T |
1: 20,271,151 (GRCm39) |
C3134Y |
probably damaging |
Het |
Ptprz1 |
T |
C |
6: 23,036,894 (GRCm39) |
V1131A |
probably damaging |
Het |
Rccd1 |
T |
C |
7: 79,970,116 (GRCm39) |
E167G |
probably benign |
Het |
Ror1 |
T |
C |
4: 100,265,120 (GRCm39) |
I198T |
possibly damaging |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Scly |
C |
T |
1: 91,230,573 (GRCm39) |
|
probably benign |
Het |
Scn4a |
T |
C |
11: 106,216,950 (GRCm39) |
|
probably benign |
Het |
Sh3rf2 |
T |
C |
18: 42,286,384 (GRCm39) |
S594P |
probably damaging |
Het |
Slc19a1 |
G |
A |
10: 76,877,809 (GRCm39) |
V115M |
possibly damaging |
Het |
Slc26a6 |
A |
T |
9: 108,731,395 (GRCm39) |
|
probably benign |
Het |
Smg7 |
C |
T |
1: 152,728,349 (GRCm39) |
R439K |
probably null |
Het |
Spata31e3 |
T |
C |
13: 50,400,887 (GRCm39) |
K480E |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,013,253 (GRCm39) |
R2815G |
probably damaging |
Het |
Trim75 |
G |
A |
8: 65,435,479 (GRCm39) |
R324C |
probably damaging |
Het |
Ucp3 |
T |
C |
7: 100,129,458 (GRCm39) |
S98P |
probably benign |
Het |
Zscan29 |
G |
C |
2: 120,991,212 (GRCm39) |
R859G |
probably benign |
Het |
|
Other mutations in Cramp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00566:Cramp1
|
APN |
17 |
25,202,925 (GRCm39) |
missense |
probably benign |
0.11 |
IGL01360:Cramp1
|
APN |
17 |
25,216,547 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01966:Cramp1
|
APN |
17 |
25,201,917 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02211:Cramp1
|
APN |
17 |
25,196,610 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02474:Cramp1
|
APN |
17 |
25,204,024 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02798:Cramp1
|
APN |
17 |
25,187,894 (GRCm39) |
splice site |
probably benign |
|
IGL03340:Cramp1
|
APN |
17 |
25,192,516 (GRCm39) |
missense |
probably damaging |
1.00 |
Interred
|
UTSW |
17 |
25,202,956 (GRCm39) |
missense |
probably damaging |
0.99 |
R0106:Cramp1
|
UTSW |
17 |
25,191,350 (GRCm39) |
missense |
probably benign |
0.30 |
R1054:Cramp1
|
UTSW |
17 |
25,202,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R1220:Cramp1
|
UTSW |
17 |
25,201,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R1341:Cramp1
|
UTSW |
17 |
25,196,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R1491:Cramp1
|
UTSW |
17 |
25,191,323 (GRCm39) |
missense |
probably benign |
0.17 |
R1610:Cramp1
|
UTSW |
17 |
25,202,925 (GRCm39) |
missense |
probably benign |
0.11 |
R1649:Cramp1
|
UTSW |
17 |
25,202,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R1795:Cramp1
|
UTSW |
17 |
25,183,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R1856:Cramp1
|
UTSW |
17 |
25,187,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R1881:Cramp1
|
UTSW |
17 |
25,196,656 (GRCm39) |
splice site |
probably benign |
|
R1968:Cramp1
|
UTSW |
17 |
25,183,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R2047:Cramp1
|
UTSW |
17 |
25,222,189 (GRCm39) |
nonsense |
probably null |
|
R2099:Cramp1
|
UTSW |
17 |
25,192,059 (GRCm39) |
missense |
probably benign |
0.01 |
R2298:Cramp1
|
UTSW |
17 |
25,216,454 (GRCm39) |
missense |
probably damaging |
0.96 |
R3752:Cramp1
|
UTSW |
17 |
25,190,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R3821:Cramp1
|
UTSW |
17 |
25,193,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R4399:Cramp1
|
UTSW |
17 |
25,198,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R4847:Cramp1
|
UTSW |
17 |
25,204,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R4883:Cramp1
|
UTSW |
17 |
25,201,293 (GRCm39) |
missense |
probably benign |
|
R5579:Cramp1
|
UTSW |
17 |
25,192,087 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5631:Cramp1
|
UTSW |
17 |
25,204,577 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5716:Cramp1
|
UTSW |
17 |
25,193,709 (GRCm39) |
missense |
probably damaging |
0.99 |
R6589:Cramp1
|
UTSW |
17 |
25,196,466 (GRCm39) |
splice site |
probably null |
|
R6631:Cramp1
|
UTSW |
17 |
25,202,931 (GRCm39) |
missense |
probably benign |
0.40 |
R7307:Cramp1
|
UTSW |
17 |
25,193,719 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7323:Cramp1
|
UTSW |
17 |
25,201,379 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7672:Cramp1
|
UTSW |
17 |
25,201,440 (GRCm39) |
missense |
probably damaging |
0.96 |
R7832:Cramp1
|
UTSW |
17 |
25,202,196 (GRCm39) |
missense |
probably damaging |
0.96 |
R8071:Cramp1
|
UTSW |
17 |
25,201,674 (GRCm39) |
missense |
probably damaging |
0.99 |
R8244:Cramp1
|
UTSW |
17 |
25,190,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R8430:Cramp1
|
UTSW |
17 |
25,196,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R8783:Cramp1
|
UTSW |
17 |
25,193,732 (GRCm39) |
missense |
probably damaging |
0.99 |
R8890:Cramp1
|
UTSW |
17 |
25,202,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R8892:Cramp1
|
UTSW |
17 |
25,202,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R8894:Cramp1
|
UTSW |
17 |
25,202,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R8937:Cramp1
|
UTSW |
17 |
25,202,956 (GRCm39) |
missense |
probably damaging |
0.99 |
R8941:Cramp1
|
UTSW |
17 |
25,202,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R9029:Cramp1
|
UTSW |
17 |
25,232,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R9047:Cramp1
|
UTSW |
17 |
25,198,603 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9149:Cramp1
|
UTSW |
17 |
25,187,920 (GRCm39) |
missense |
probably damaging |
0.99 |
R9262:Cramp1
|
UTSW |
17 |
25,232,920 (GRCm39) |
missense |
probably damaging |
0.99 |
R9460:Cramp1
|
UTSW |
17 |
25,222,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R9614:Cramp1
|
UTSW |
17 |
25,201,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R9615:Cramp1
|
UTSW |
17 |
25,201,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R9651:Cramp1
|
UTSW |
17 |
25,201,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R9652:Cramp1
|
UTSW |
17 |
25,201,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R9653:Cramp1
|
UTSW |
17 |
25,201,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R9665:Cramp1
|
UTSW |
17 |
25,196,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R9753:Cramp1
|
UTSW |
17 |
25,191,320 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAACCAACTTTGCCTAGTGG -3'
(R):5'- TAAGTATCCCTCATGGCCCC -3'
Sequencing Primer
(F):5'- AGGGTCTCTGTAACACTCACCATTG -3'
(R):5'- AGTATCCCTCATGGCCCCCTAAG -3'
|
Posted On |
2015-04-06 |