Incidental Mutation 'R8244:Cramp1'
ID |
640886 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cramp1
|
Ensembl Gene |
ENSMUSG00000038002 |
Gene Name |
cramped chromatin regulator 1 |
Synonyms |
5830477H08Rik, Tce4, Cramp1l |
MMRRC Submission |
067672-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8244 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
25180200-25234762 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 25190384 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 1117
(I1117F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073060
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073337]
|
AlphaFold |
Q6PG95 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073337
AA Change: I1117F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000073060 Gene: ENSMUSG00000038002 AA Change: I1117F
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
98% (44/45) |
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 |
2310022A10Rik |
T |
C |
7: 27,271,004 (GRCm39) |
I133T |
probably damaging |
Het |
Ahnak |
C |
T |
19: 8,993,037 (GRCm39) |
P4774S |
probably benign |
Het |
Alg5 |
A |
G |
3: 54,646,221 (GRCm39) |
I29V |
probably benign |
Het |
Ankar |
A |
G |
1: 72,690,183 (GRCm39) |
I1216T |
probably benign |
Het |
Ap5z1 |
A |
T |
5: 142,459,735 (GRCm39) |
T462S |
possibly damaging |
Het |
Apc2 |
A |
T |
10: 80,151,166 (GRCm39) |
R2073S |
probably damaging |
Het |
Apob |
A |
T |
12: 8,060,548 (GRCm39) |
E3010V |
probably damaging |
Het |
Arid3c |
T |
G |
4: 41,729,997 (GRCm39) |
E66A |
possibly damaging |
Het |
Atf7 |
A |
G |
15: 102,437,301 (GRCm39) |
S54P |
unknown |
Het |
Cbx3 |
C |
T |
6: 51,452,350 (GRCm39) |
T55I |
probably benign |
Het |
Clptm1 |
A |
T |
7: 19,372,916 (GRCm39) |
F205I |
possibly damaging |
Het |
Dgkq |
A |
G |
5: 108,796,578 (GRCm39) |
*935Q |
probably null |
Het |
Dock2 |
A |
T |
11: 34,586,280 (GRCm39) |
F511I |
probably damaging |
Het |
Efr3a |
G |
A |
15: 65,687,217 (GRCm39) |
R15H |
probably damaging |
Het |
Ehmt2 |
A |
G |
17: 35,124,238 (GRCm39) |
D385G |
probably damaging |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
Gfpt1 |
T |
A |
6: 87,040,613 (GRCm39) |
|
probably benign |
Het |
Gm21680 |
T |
C |
5: 26,173,983 (GRCm39) |
E207G |
probably damaging |
Het |
Igsf23 |
A |
T |
7: 19,675,798 (GRCm39) |
C141S |
possibly damaging |
Het |
Ktn1 |
A |
T |
14: 47,912,280 (GRCm39) |
E349V |
probably null |
Het |
Lrp1b |
T |
C |
2: 41,396,794 (GRCm39) |
D424G |
|
Het |
Lrrc9 |
A |
G |
12: 72,546,384 (GRCm39) |
I1190V |
probably benign |
Het |
Lztfl1 |
T |
A |
9: 123,541,514 (GRCm39) |
I102F |
probably damaging |
Het |
Mapk11 |
G |
T |
15: 89,030,007 (GRCm39) |
T203K |
possibly damaging |
Het |
Mgam |
T |
A |
6: 40,727,520 (GRCm39) |
I1315N |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,331,750 (GRCm39) |
M695T |
probably benign |
Het |
Pdcd4 |
A |
G |
19: 53,895,965 (GRCm39) |
T8A |
probably benign |
Het |
Pramel27 |
T |
C |
4: 143,579,854 (GRCm39) |
Y480H |
probably damaging |
Het |
Ptx4 |
A |
G |
17: 25,341,839 (GRCm39) |
K105E |
possibly damaging |
Het |
Pxn |
C |
T |
5: 115,690,302 (GRCm39) |
P381L |
probably damaging |
Het |
Rtn4rl1 |
T |
C |
11: 75,156,276 (GRCm39) |
L236P |
probably damaging |
Het |
Sall3 |
G |
A |
18: 81,016,969 (GRCm39) |
P320S |
probably benign |
Het |
Sh2b2 |
G |
T |
5: 136,256,291 (GRCm39) |
S247* |
probably null |
Het |
Sim2 |
T |
A |
16: 93,910,222 (GRCm39) |
V208E |
probably damaging |
Het |
Slc44a4 |
T |
C |
17: 35,140,548 (GRCm39) |
L247P |
probably damaging |
Het |
Sox1 |
GGGCGGCGGCGGCGGCGG |
GGGCGGCGGCGGCGG |
8: 12,446,468 (GRCm39) |
|
probably benign |
Het |
Tacc2 |
A |
G |
7: 130,330,406 (GRCm39) |
D1937G |
probably damaging |
Het |
Tmem131 |
T |
C |
1: 36,847,974 (GRCm39) |
N1158S |
probably benign |
Het |
Tns1 |
G |
T |
1: 73,976,410 (GRCm39) |
A1146E |
probably damaging |
Het |
Tom1l1 |
T |
C |
11: 90,548,647 (GRCm39) |
E308G |
probably benign |
Het |
Ttn |
T |
A |
2: 76,659,051 (GRCm39) |
K12262* |
probably null |
Het |
Vps13b |
G |
T |
15: 35,917,349 (GRCm39) |
G3731V |
probably damaging |
Het |
Wdr20 |
G |
A |
12: 110,760,076 (GRCm39) |
E321K |
probably benign |
Het |
Zfp516 |
G |
T |
18: 82,974,458 (GRCm39) |
G219C |
probably damaging |
Het |
Zfp979 |
A |
T |
4: 147,697,933 (GRCm39) |
C259S |
possibly damaging |
Het |
Zscan20 |
T |
C |
4: 128,479,759 (GRCm39) |
T911A |
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 |
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'- AGTTACTGCTCCTGCCAGAG -3'
(R):5'- TGACCTTACCTGAGCTGTCC -3'
Sequencing Primer
(F):5'- GCACCTTATAGTGGCACATATTC -3'
(R):5'- TGAGCTGTCCAAGGCTAATC -3'
|
Posted On |
2020-07-28 |