Incidental Mutation 'R4847:Cramp1'
ID |
373342 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cramp1
|
Ensembl Gene |
ENSMUSG00000038002 |
Gene Name |
cramped chromatin regulator 1 |
Synonyms |
5830477H08Rik, Tce4, Cramp1l |
MMRRC Submission |
042460-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4847 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
25180200-25234762 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25204063 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 305
(D305G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073060
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073337]
|
AlphaFold |
Q6PG95 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073337
AA Change: D305G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000073060 Gene: ENSMUSG00000038002 AA Change: D305G
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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730455P16Rik |
C |
T |
11: 80,264,940 (GRCm39) |
V171M |
probably damaging |
Het |
Abhd3 |
A |
G |
18: 10,647,786 (GRCm39) |
S328P |
possibly damaging |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Aldh1b1 |
G |
T |
4: 45,802,625 (GRCm39) |
K54N |
possibly damaging |
Het |
Amacr |
C |
T |
15: 10,994,958 (GRCm39) |
Q257* |
probably null |
Het |
Ankrd12 |
A |
T |
17: 66,331,087 (GRCm39) |
D309E |
probably benign |
Het |
Anks6 |
T |
C |
4: 47,033,266 (GRCm39) |
T600A |
probably benign |
Het |
Ap3b1 |
A |
G |
13: 94,608,287 (GRCm39) |
E586G |
probably benign |
Het |
Atad2b |
A |
G |
12: 4,994,901 (GRCm39) |
|
probably null |
Het |
Cant1 |
G |
A |
11: 118,300,936 (GRCm39) |
Q240* |
probably null |
Het |
Cep152 |
T |
C |
2: 125,460,394 (GRCm39) |
Y186C |
possibly damaging |
Het |
Cep76 |
C |
A |
18: 67,752,639 (GRCm39) |
R603I |
probably benign |
Het |
Chad |
T |
C |
11: 94,459,153 (GRCm39) |
S352P |
probably benign |
Het |
Ckap2 |
T |
C |
8: 22,665,084 (GRCm39) |
E460G |
probably damaging |
Het |
Col22a1 |
T |
C |
15: 71,671,348 (GRCm39) |
Y1004C |
unknown |
Het |
Col9a3 |
G |
A |
2: 180,257,318 (GRCm39) |
G480S |
probably damaging |
Het |
Cpsf2 |
A |
G |
12: 101,963,561 (GRCm39) |
D430G |
probably benign |
Het |
Ctnnd1 |
C |
A |
2: 84,452,396 (GRCm39) |
E76* |
probably null |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Cyp2c39 |
A |
T |
19: 39,549,340 (GRCm39) |
N286I |
probably damaging |
Het |
Ddx11 |
A |
G |
17: 66,437,796 (GRCm39) |
E174G |
probably damaging |
Het |
Ddx19a |
T |
C |
8: 111,703,677 (GRCm39) |
E369G |
probably damaging |
Het |
Dnai7 |
T |
A |
6: 145,120,911 (GRCm39) |
H636L |
probably damaging |
Het |
Epha1 |
T |
A |
6: 42,338,848 (GRCm39) |
D687V |
possibly damaging |
Het |
Fgr |
T |
C |
4: 132,721,959 (GRCm39) |
W132R |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,692,851 (GRCm39) |
D170V |
possibly damaging |
Het |
Gas2l1 |
A |
G |
11: 5,014,173 (GRCm39) |
S96P |
probably damaging |
Het |
Gfy |
G |
A |
7: 44,827,020 (GRCm39) |
P359S |
probably damaging |
Het |
Hexim2 |
A |
G |
11: 103,029,767 (GRCm39) |
N273S |
probably benign |
Het |
Hr |
A |
T |
14: 70,793,916 (GRCm39) |
T59S |
probably benign |
Het |
Ift70a2 |
A |
T |
2: 75,808,058 (GRCm39) |
N151K |
probably benign |
Het |
Impdh2 |
A |
G |
9: 108,441,870 (GRCm39) |
Y166C |
probably damaging |
Het |
Impdh2 |
T |
A |
9: 108,442,714 (GRCm39) |
F514Y |
probably benign |
Het |
Iqgap2 |
A |
G |
13: 95,810,251 (GRCm39) |
F731S |
probably benign |
Het |
Klhl17 |
A |
T |
4: 156,316,054 (GRCm39) |
H433Q |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Kntc1 |
A |
C |
5: 123,940,337 (GRCm39) |
N1645T |
probably benign |
Het |
Mcm8 |
A |
G |
2: 132,661,923 (GRCm39) |
I114V |
probably benign |
Het |
Mink1 |
T |
A |
11: 70,492,854 (GRCm39) |
L160Q |
probably damaging |
Het |
Mipol1 |
A |
T |
12: 57,350,282 (GRCm39) |
S27C |
probably damaging |
Het |
Mthfr |
T |
C |
4: 148,132,596 (GRCm39) |
V217A |
probably damaging |
Het |
Or5b105 |
A |
G |
19: 13,079,898 (GRCm39) |
Y257H |
probably damaging |
Het |
Or5p53 |
T |
A |
7: 107,533,034 (GRCm39) |
C102* |
probably null |
Het |
Pde1c |
T |
C |
6: 56,100,019 (GRCm39) |
K614E |
possibly damaging |
Het |
Pds5b |
A |
T |
5: 150,671,577 (GRCm39) |
E407V |
probably damaging |
Het |
Pdzph1 |
A |
G |
17: 59,280,525 (GRCm39) |
S586P |
possibly damaging |
Het |
Prkcb |
C |
T |
7: 122,167,372 (GRCm39) |
R361W |
probably benign |
Het |
Psen2 |
T |
A |
1: 180,073,197 (GRCm39) |
|
probably null |
Het |
Ptk2 |
T |
A |
15: 73,103,805 (GRCm39) |
M82L |
probably benign |
Het |
Ptk2b |
T |
C |
14: 66,411,331 (GRCm39) |
D400G |
probably damaging |
Het |
Samd8 |
G |
A |
14: 21,842,503 (GRCm39) |
R275Q |
possibly damaging |
Het |
Senp2 |
A |
G |
16: 21,857,386 (GRCm39) |
T403A |
possibly damaging |
Het |
Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
Skap2 |
T |
A |
6: 51,980,649 (GRCm39) |
I52L |
probably benign |
Het |
Slc5a7 |
T |
C |
17: 54,584,168 (GRCm39) |
D374G |
possibly damaging |
Het |
Slmap |
A |
T |
14: 26,147,763 (GRCm39) |
L699M |
possibly damaging |
Het |
Sntg1 |
A |
C |
1: 8,665,706 (GRCm39) |
C203G |
possibly damaging |
Het |
Stard9 |
T |
C |
2: 120,533,594 (GRCm39) |
S3284P |
probably benign |
Het |
Tbx21 |
T |
C |
11: 97,005,857 (GRCm39) |
Y36C |
probably damaging |
Het |
Tecpr2 |
A |
G |
12: 110,906,311 (GRCm39) |
Y971C |
probably damaging |
Het |
Trpm5 |
T |
A |
7: 142,641,500 (GRCm39) |
I137F |
possibly damaging |
Het |
Unk |
A |
G |
11: 115,945,232 (GRCm39) |
K426E |
probably damaging |
Het |
Zc3hc1 |
T |
C |
6: 30,375,981 (GRCm39) |
D193G |
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 |
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'- AAAAGCTCATGCCCTGCCTG -3'
(R):5'- GAAGCTCTCATGGCCACTTGATG -3'
Sequencing Primer
(F):5'- CCTGCCTGGCATTGAGG -3'
(R):5'- GCCTTTGCAAGTACAGAGTTCAC -3'
|
Posted On |
2016-03-01 |