Incidental Mutation 'R9753:Cramp1'
| ID |
732655 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cramp1
|
| Ensembl Gene |
ENSMUSG00000038002 |
| Gene Name |
cramped chromatin regulator 1 |
| Synonyms |
5830477H08Rik, Tce4, Cramp1l |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9753 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25180200-25234762 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25191320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1047
(D1047G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073337]
|
| AlphaFold |
Q6PG95 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073337
AA Change: D1047G
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000073060
Gene: ENSMUSG00000038002
AA Change: D1047G
| 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: 99.8%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.3%
|
| Validation Efficiency |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak9 |
G |
A |
10: 41,259,496 (GRCm39) |
V843I |
|
Het |
| Bbs12 |
T |
C |
3: 37,373,680 (GRCm39) |
C43R |
possibly damaging |
Het |
| Brwd1 |
T |
C |
16: 95,825,028 (GRCm39) |
E1145G |
probably damaging |
Het |
| C2cd4c |
A |
C |
10: 79,448,067 (GRCm39) |
I360S |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,417,539 (GRCm39) |
N599S |
probably damaging |
Het |
| Cd79b |
A |
G |
11: 106,203,457 (GRCm39) |
|
probably null |
Het |
| Ces2c |
A |
G |
8: 105,580,249 (GRCm39) |
M489V |
probably benign |
Het |
| Clip4 |
A |
G |
17: 72,106,068 (GRCm39) |
N84D |
probably benign |
Het |
| Cyp2c69 |
C |
T |
19: 39,865,991 (GRCm39) |
V201M |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,223,673 (GRCm39) |
S1154P |
possibly damaging |
Het |
| Elk4 |
T |
G |
1: 131,945,881 (GRCm39) |
V253G |
probably benign |
Het |
| Erbb4 |
T |
A |
1: 68,238,062 (GRCm39) |
H809L |
probably benign |
Het |
| Ext1 |
A |
T |
15: 53,208,067 (GRCm39) |
D231E |
probably damaging |
Het |
| Fam221b |
T |
C |
4: 43,665,574 (GRCm39) |
K295E |
probably benign |
Het |
| Fbrsl1 |
A |
G |
5: 110,526,835 (GRCm39) |
F2L |
unknown |
Het |
| Fnip2 |
C |
T |
3: 79,415,411 (GRCm39) |
R209H |
probably benign |
Het |
| Gart |
C |
T |
16: 91,430,949 (GRCm39) |
G371D |
probably damaging |
Het |
| Gata6 |
T |
A |
18: 11,064,706 (GRCm39) |
V506D |
possibly damaging |
Het |
| Gba2 |
T |
C |
4: 43,568,716 (GRCm39) |
Y620C |
probably damaging |
Het |
| Gprc6a |
T |
C |
10: 51,504,364 (GRCm39) |
N160S |
probably benign |
Het |
| Gstm3 |
A |
G |
3: 107,875,493 (GRCm39) |
W46R |
probably damaging |
Het |
| Hcn4 |
G |
A |
9: 58,751,319 (GRCm39) |
R315H |
unknown |
Het |
| Hydin |
T |
C |
8: 111,217,398 (GRCm39) |
F1429L |
possibly damaging |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Itgb1bp1 |
A |
G |
12: 21,326,890 (GRCm39) |
S28P |
unknown |
Het |
| Krt10 |
A |
G |
11: 99,279,792 (GRCm39) |
F123L |
unknown |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Lingo4 |
C |
T |
3: 94,309,493 (GRCm39) |
R144* |
probably null |
Het |
| Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
| Nrsn1 |
C |
A |
13: 25,437,563 (GRCm39) |
V122L |
probably benign |
Het |
| Or10h5 |
C |
A |
17: 33,434,688 (GRCm39) |
G210V |
possibly damaging |
Het |
| Or2r2 |
T |
C |
6: 42,463,507 (GRCm39) |
M207V |
probably benign |
Het |
| Or4d6 |
T |
A |
19: 12,086,056 (GRCm39) |
M59L |
probably benign |
Het |
| Pcgf6 |
T |
C |
19: 47,023,073 (GRCm39) |
T353A |
probably damaging |
Het |
| Pcsk2 |
T |
C |
2: 143,635,150 (GRCm39) |
Y342H |
probably damaging |
Het |
| Pou2af1 |
A |
T |
9: 51,149,636 (GRCm39) |
N243Y |
possibly damaging |
Het |
| Prkcz |
T |
C |
4: 155,377,659 (GRCm39) |
D197G |
probably benign |
Het |
| Sec14l4 |
G |
A |
11: 3,989,982 (GRCm39) |
E94K |
probably benign |
Het |
| Sik2 |
T |
C |
9: 50,807,139 (GRCm39) |
E757G |
probably damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,463,763 (GRCm39) |
S1154T |
possibly damaging |
Het |
| Speer1k |
A |
T |
5: 10,999,020 (GRCm39) |
T53S |
|
Het |
| Ssb |
T |
C |
2: 69,697,865 (GRCm39) |
Y175H |
probably damaging |
Het |
| St6galnac6 |
T |
C |
2: 32,502,261 (GRCm39) |
I50T |
probably benign |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Tmcc1 |
G |
C |
6: 115,999,071 (GRCm39) |
R323G |
possibly damaging |
Het |
| Unc13b |
C |
T |
4: 43,182,842 (GRCm39) |
R396* |
probably null |
Het |
| Vezt |
A |
G |
10: 93,806,183 (GRCm39) |
S743P |
probably benign |
Het |
| Vmn1r77 |
A |
C |
7: 11,775,659 (GRCm39) |
N145T |
probably damaging |
Het |
| Vmn2r98 |
A |
C |
17: 19,285,665 (GRCm39) |
T162P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACTGTCAGCATCTAGTGGAG -3'
(R):5'- TAGGGACACCGGCTTAACTG -3'
Sequencing Primer
(F):5'- AACCTAGTCCTTTCAGACATGGGG -3'
(R):5'- GGACACCGGCTTAACTGAGAAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation