Incidental Mutation 'R1341:Cramp1'
| ID |
157067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cramp1
|
| Ensembl Gene |
ENSMUSG00000038002 |
| Gene Name |
cramped chromatin regulator 1 |
| Synonyms |
5830477H08Rik, Tce4, Cramp1l |
| MMRRC Submission |
039406-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1341 (G1)
|
| Quality Score |
223 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25180200-25234762 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25196514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 867
(K867E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073337]
|
| AlphaFold |
Q6PG95 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073337
AA Change: K867E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000073060
Gene: ENSMUSG00000038002
AA Change: K867E
| 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 |
|
| Meta Mutation Damage Score |
0.0847 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.9%
|
| Validation Efficiency |
96% (53/55) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v0e2 |
A |
G |
6: 48,517,045 (GRCm39) |
Y75C |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,096,393 (GRCm39) |
|
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,324,582 (GRCm39) |
L1190P |
probably damaging |
Het |
| Ccdc190 |
A |
G |
1: 169,757,586 (GRCm39) |
D15G |
probably damaging |
Het |
| Cep126 |
G |
T |
9: 8,099,777 (GRCm39) |
P919Q |
possibly damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,660,131 (GRCm39) |
T665S |
probably damaging |
Het |
| Chchd6 |
A |
G |
6: 89,361,623 (GRCm39) |
V260A |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,168,602 (GRCm39) |
N440K |
probably benign |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Gm17421 |
A |
T |
12: 113,333,334 (GRCm39) |
|
noncoding transcript |
Het |
| H2bc13 |
T |
C |
13: 21,900,280 (GRCm39) |
K12E |
probably benign |
Het |
| Hdac3 |
A |
G |
18: 38,087,766 (GRCm39) |
V36A |
probably damaging |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Itga10 |
G |
A |
3: 96,559,811 (GRCm39) |
E489K |
probably damaging |
Het |
| Mgat5b |
A |
C |
11: 116,869,223 (GRCm39) |
I589L |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,232,601 (GRCm39) |
N348S |
probably benign |
Het |
| Mmp15 |
A |
G |
8: 96,098,931 (GRCm39) |
D586G |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,791,247 (GRCm39) |
D139G |
probably damaging |
Het |
| Morc2a |
C |
A |
11: 3,630,216 (GRCm39) |
L471I |
possibly damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,536,303 (GRCm39) |
|
probably benign |
Het |
| Mylip |
T |
A |
13: 45,559,412 (GRCm39) |
S105T |
probably damaging |
Het |
| Nat8f4 |
A |
T |
6: 85,878,406 (GRCm39) |
L39Q |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,920,198 (GRCm39) |
|
probably benign |
Het |
| Or10ak13 |
T |
C |
4: 118,639,579 (GRCm39) |
T68A |
probably benign |
Het |
| Or11m3 |
G |
A |
15: 98,396,135 (GRCm39) |
V261M |
possibly damaging |
Het |
| Or51k2 |
T |
A |
7: 103,596,589 (GRCm39) |
V272D |
possibly damaging |
Het |
| Or5t7 |
T |
C |
2: 86,507,507 (GRCm39) |
M57V |
possibly damaging |
Het |
| Or9k2 |
G |
T |
10: 129,999,185 (GRCm39) |
D3E |
probably benign |
Het |
| Pramel29 |
T |
C |
4: 143,934,129 (GRCm39) |
D326G |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Rab11fip1 |
G |
T |
8: 27,633,388 (GRCm39) |
A1106E |
probably damaging |
Het |
| Rfc1 |
A |
G |
5: 65,448,537 (GRCm39) |
S363P |
probably damaging |
Het |
| Skint10 |
A |
G |
4: 112,622,228 (GRCm39) |
|
probably benign |
Het |
| Spen |
T |
C |
4: 141,196,711 (GRCm39) |
N3595D |
possibly damaging |
Het |
| Swsap1 |
A |
G |
9: 21,868,450 (GRCm39) |
K241E |
probably benign |
Het |
| Tab1 |
A |
G |
15: 80,044,315 (GRCm39) |
T448A |
possibly damaging |
Het |
| Tktl1 |
G |
T |
X: 73,241,289 (GRCm39) |
G302V |
probably damaging |
Het |
| Usp25 |
A |
G |
16: 76,912,331 (GRCm39) |
T1017A |
probably benign |
Het |
| Vmn2r78 |
T |
A |
7: 86,571,477 (GRCm39) |
M429K |
possibly damaging |
Het |
| Wdr49 |
A |
T |
3: 75,336,640 (GRCm39) |
F356I |
probably damaging |
Het |
| Wnt1 |
T |
C |
15: 98,689,764 (GRCm39) |
F184L |
probably damaging |
Het |
| Yy1 |
T |
C |
12: 108,759,445 (GRCm39) |
I36T |
unknown |
Het |
| Zbtb39 |
A |
G |
10: 127,579,369 (GRCm39) |
I648V |
possibly damaging |
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 |
|
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 |
|
R3861:Cramp1
|
UTSW |
17 |
25,216,588 (GRCm39) |
splice site |
probably benign |
|
|
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'- CCACGCAGATTCAAGCAATGTTCC -3'
(R):5'- AGCCTTTAGGCCGGGTAAAATGGG -3'
Sequencing Primer
(F):5'- AAGCAATGTTCCCTTACCTGG -3'
(R):5'- AGGAAACGTCTTTCTTGGCTTAC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation