Incidental Mutation 'R9615:Cramp1'
| ID |
724535 |
| 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 # |
R9615 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25180200-25234762 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 25201783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 566
(K566N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073337]
|
| AlphaFold |
Q6PG95 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073337
AA Change: K566N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073060
Gene: ENSMUSG00000038002
AA Change: K566N
| 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: 99.7%
- 20x: 99.0%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
C |
5: 138,561,814 (GRCm39) |
Q124R |
probably damaging |
Het |
| Abca16 |
T |
A |
7: 120,126,404 (GRCm39) |
F1188I |
probably benign |
Het |
| Acat3 |
G |
A |
17: 13,147,502 (GRCm39) |
Q172* |
probably null |
Het |
| Aicda |
T |
A |
6: 122,538,113 (GRCm39) |
C90* |
probably null |
Het |
| Arhgap39 |
C |
A |
15: 76,621,438 (GRCm39) |
V388L |
probably benign |
Het |
| B020011L13Rik |
A |
T |
1: 117,729,462 (GRCm39) |
H323L |
probably damaging |
Het |
| Bsn |
C |
T |
9: 107,984,430 (GRCm39) |
R436Q |
|
Het |
| C3 |
A |
T |
17: 57,518,669 (GRCm39) |
L1238Q |
probably damaging |
Het |
| Cert1 |
C |
T |
13: 96,767,334 (GRCm39) |
H495Y |
possibly damaging |
Het |
| Ces1g |
A |
G |
8: 94,061,807 (GRCm39) |
V33A |
probably damaging |
Het |
| Clstn1 |
A |
G |
4: 149,722,757 (GRCm39) |
D475G |
probably damaging |
Het |
| Cmtm2a |
A |
G |
8: 105,019,286 (GRCm39) |
V101A |
probably damaging |
Het |
| Cnnm4 |
A |
G |
1: 36,511,893 (GRCm39) |
M374V |
probably damaging |
Het |
| Commd9 |
T |
C |
2: 101,727,436 (GRCm39) |
S77P |
possibly damaging |
Het |
| Cox7a2l |
A |
G |
17: 83,821,701 (GRCm39) |
Y2H |
possibly damaging |
Het |
| Cubn |
G |
A |
2: 13,325,991 (GRCm39) |
H2725Y |
possibly damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,501,617 (GRCm39) |
F57L |
probably benign |
Het |
| Dgkh |
A |
T |
14: 78,813,370 (GRCm39) |
V1036D |
possibly damaging |
Het |
| Dip2c |
G |
A |
13: 9,625,191 (GRCm39) |
V562I |
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,289,343 (GRCm39) |
Q60R |
probably benign |
Het |
| Gm1527 |
A |
G |
3: 28,969,475 (GRCm39) |
D275G |
probably damaging |
Het |
| Gp5 |
A |
C |
16: 30,128,393 (GRCm39) |
F94V |
probably damaging |
Het |
| Grik4 |
T |
A |
9: 42,502,765 (GRCm39) |
K453* |
probably null |
Het |
| Hdlbp |
T |
C |
1: 93,358,014 (GRCm39) |
T296A |
probably benign |
Het |
| Hrh4 |
C |
A |
18: 13,154,944 (GRCm39) |
T161K |
probably benign |
Het |
| Ift74 |
A |
T |
4: 94,550,822 (GRCm39) |
|
probably null |
Het |
| Kctd5 |
A |
T |
17: 24,292,192 (GRCm39) |
Y71N |
probably benign |
Het |
| Klhl42 |
T |
C |
6: 147,009,373 (GRCm39) |
L404P |
probably damaging |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Lipe |
T |
A |
7: 25,097,326 (GRCm39) |
K206* |
probably null |
Het |
| Lipo3 |
T |
C |
19: 33,754,047 (GRCm39) |
I363V |
probably benign |
Het |
| Mrgpra6 |
T |
A |
7: 46,835,675 (GRCm39) |
I249F |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,374,320 (GRCm39) |
N125I |
|
Het |
| Nbr1 |
T |
A |
11: 101,465,978 (GRCm39) |
I753N |
probably benign |
Het |
| Ndor1 |
T |
C |
2: 25,138,434 (GRCm39) |
D451G |
probably benign |
Het |
| Nlrp5 |
C |
T |
7: 23,107,561 (GRCm39) |
T78I |
probably benign |
Het |
| Or10j3b |
A |
T |
1: 173,044,034 (GRCm39) |
E272V |
possibly damaging |
Het |
| Or51ag1 |
C |
T |
7: 103,155,727 (GRCm39) |
R142H |
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,164,399 (GRCm39) |
F728S |
probably damaging |
Het |
| Ptgs2 |
T |
A |
1: 149,980,802 (GRCm39) |
F456Y |
probably damaging |
Het |
| Rtl1 |
G |
A |
12: 109,556,835 (GRCm39) |
A1668V |
possibly damaging |
Het |
| Runx2 |
A |
T |
17: 44,969,560 (GRCm39) |
D310E |
probably benign |
Het |
| Samd4b |
A |
T |
7: 28,106,714 (GRCm39) |
I349K |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,487,504 (GRCm39) |
M610T |
possibly damaging |
Het |
| Sec61b |
A |
G |
4: 47,483,056 (GRCm39) |
I105V |
probably benign |
Het |
| Semp2l2b |
T |
C |
10: 21,943,611 (GRCm39) |
E123G |
probably benign |
Het |
| Slc35f4 |
A |
G |
14: 49,556,306 (GRCm39) |
V149A |
probably benign |
Het |
| Smndc1 |
T |
A |
19: 53,368,951 (GRCm39) |
M221L |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,316,203 (GRCm39) |
N275D |
possibly damaging |
Het |
| Tas2r124 |
C |
T |
6: 132,732,492 (GRCm39) |
T267I |
probably benign |
Het |
| Thra |
G |
A |
11: 98,651,715 (GRCm39) |
R79H |
probably damaging |
Het |
| Tie1 |
T |
C |
4: 118,347,032 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
A |
C |
17: 31,217,152 (GRCm39) |
Q1128P |
possibly damaging |
Het |
| Vps35 |
G |
A |
8: 86,010,633 (GRCm39) |
R237C |
probably benign |
Het |
| Zfp78 |
T |
A |
7: 6,382,074 (GRCm39) |
C343S |
probably damaging |
Het |
| Zfp85 |
A |
G |
13: 67,897,326 (GRCm39) |
Y249H |
probably 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 |
|
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 |
|
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'- ATATCTGACTGAAGCCTGGTG -3'
(R):5'- AAGTCTGAGCAGCCCAGATG -3'
Sequencing Primer
(F):5'- GTCAGGTTGATGATCAGTGCCAG -3'
(R):5'- CCAGATGCCCCCGACAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation