Incidental Mutation 'R1649:Cramp1'
| ID |
174134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cramp1
|
| Ensembl Gene |
ENSMUSG00000038002 |
| Gene Name |
cramped chromatin regulator 1 |
| Synonyms |
5830477H08Rik, Tce4, Cramp1l |
| MMRRC Submission |
039685-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1649 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25180200-25234762 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 25202217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 422
(H422N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073337]
|
| AlphaFold |
Q6PG95 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073337
AA Change: H422N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073060
Gene: ENSMUSG00000038002
AA Change: H422N
| 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: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 88.1%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1a1 |
T |
A |
4: 116,495,217 (GRCm39) |
I261F |
probably damaging |
Het |
| Aldh1l1 |
T |
C |
6: 90,541,371 (GRCm39) |
V255A |
probably benign |
Het |
| Ambn |
T |
A |
5: 88,612,340 (GRCm39) |
M172K |
probably benign |
Het |
| Arhgef18 |
A |
G |
8: 3,439,094 (GRCm39) |
|
probably benign |
Het |
| BC034090 |
T |
C |
1: 155,101,319 (GRCm39) |
H315R |
possibly damaging |
Het |
| Btaf1 |
T |
A |
19: 36,959,122 (GRCm39) |
D707E |
probably benign |
Het |
| C6 |
T |
C |
15: 4,764,739 (GRCm39) |
L145P |
possibly damaging |
Het |
| Cav3 |
T |
A |
6: 112,449,207 (GRCm39) |
L75Q |
probably damaging |
Het |
| Cavin2 |
T |
A |
1: 51,339,939 (GRCm39) |
D205E |
probably benign |
Het |
| Cdadc1 |
T |
C |
14: 59,811,242 (GRCm39) |
T423A |
probably damaging |
Het |
| Cep120 |
A |
T |
18: 53,857,648 (GRCm39) |
H272Q |
probably damaging |
Het |
| Chd9 |
A |
T |
8: 91,659,229 (GRCm39) |
Q63L |
possibly damaging |
Het |
| Clspn |
T |
C |
4: 126,460,228 (GRCm39) |
|
probably benign |
Het |
| Csn1s2b |
A |
T |
5: 87,966,943 (GRCm39) |
M71L |
probably benign |
Het |
| D630045J12Rik |
C |
A |
6: 38,158,366 (GRCm39) |
A1104S |
probably damaging |
Het |
| D930048N14Rik |
A |
G |
11: 51,545,663 (GRCm39) |
|
probably benign |
Het |
| Ern2 |
G |
A |
7: 121,776,623 (GRCm39) |
P366S |
probably damaging |
Het |
| Gm1527 |
T |
C |
3: 28,952,880 (GRCm39) |
I60T |
probably damaging |
Het |
| Gse1 |
T |
C |
8: 121,305,254 (GRCm39) |
|
probably benign |
Het |
| Ildr1 |
T |
C |
16: 36,528,681 (GRCm39) |
L42P |
probably damaging |
Het |
| Itih2 |
G |
A |
2: 10,110,546 (GRCm39) |
T515I |
probably benign |
Het |
| Jcad |
C |
A |
18: 4,673,309 (GRCm39) |
P357Q |
probably damaging |
Het |
| Kitl |
A |
G |
10: 99,899,976 (GRCm39) |
T94A |
probably benign |
Het |
| Klri1 |
C |
T |
6: 129,675,204 (GRCm39) |
M185I |
probably benign |
Het |
| Lsamp |
A |
T |
16: 41,775,661 (GRCm39) |
M171L |
probably benign |
Het |
| Macf1 |
T |
G |
4: 123,377,846 (GRCm39) |
I1460L |
probably damaging |
Het |
| Map1b |
C |
G |
13: 99,652,986 (GRCm39) |
V4L |
probably benign |
Het |
| Mboat7 |
A |
T |
7: 3,688,817 (GRCm39) |
V237D |
probably benign |
Het |
| Mctp2 |
A |
T |
7: 71,811,006 (GRCm39) |
I656K |
probably damaging |
Het |
| Ms4a6b |
A |
G |
19: 11,497,806 (GRCm39) |
D35G |
possibly damaging |
Het |
| Nipsnap2 |
T |
A |
5: 129,830,301 (GRCm39) |
I205N |
probably damaging |
Het |
| Nsd2 |
T |
C |
5: 34,011,984 (GRCm39) |
V264A |
probably damaging |
Het |
| Oacyl |
C |
T |
18: 65,883,167 (GRCm39) |
T582I |
probably damaging |
Het |
| Olfm1 |
A |
T |
2: 28,119,279 (GRCm39) |
T333S |
possibly damaging |
Het |
| Olfm4 |
G |
A |
14: 80,249,422 (GRCm39) |
E180K |
probably damaging |
Het |
| Or14j6 |
T |
C |
17: 38,215,060 (GRCm39) |
F208L |
probably benign |
Het |
| Or2ad1 |
A |
T |
13: 21,326,912 (GRCm39) |
L105Q |
probably damaging |
Het |
| Or8g17 |
T |
G |
9: 38,930,776 (GRCm39) |
Q20H |
probably benign |
Het |
| Parp4 |
T |
A |
14: 56,827,885 (GRCm39) |
V212E |
possibly damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,648,666 (GRCm39) |
N598K |
probably damaging |
Het |
| Piezo2 |
C |
A |
18: 63,250,743 (GRCm39) |
W452L |
probably benign |
Het |
| Plec |
C |
A |
15: 76,090,011 (GRCm39) |
A110S |
possibly damaging |
Het |
| Popdc3 |
T |
C |
10: 45,191,320 (GRCm39) |
Y144H |
probably damaging |
Het |
| Ptgdr |
T |
C |
14: 45,095,959 (GRCm39) |
H251R |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,421,015 (GRCm39) |
Y246* |
probably null |
Het |
| Pyroxd2 |
T |
C |
19: 42,726,573 (GRCm39) |
D247G |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,695,889 (GRCm39) |
E1418G |
probably benign |
Het |
| Rtp3 |
T |
C |
9: 110,815,772 (GRCm39) |
T198A |
probably benign |
Het |
| Sec16a |
A |
T |
2: 26,315,536 (GRCm39) |
V1767D |
probably damaging |
Het |
| Septin14 |
T |
C |
5: 129,774,819 (GRCm39) |
N119D |
probably benign |
Het |
| Serpina5 |
A |
T |
12: 104,071,484 (GRCm39) |
T364S |
possibly damaging |
Het |
| Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
| Sh3bp2 |
C |
T |
5: 34,716,348 (GRCm39) |
A253V |
possibly damaging |
Het |
| Slc6a5 |
G |
T |
7: 49,586,010 (GRCm39) |
G443C |
probably damaging |
Het |
| Spag9 |
T |
A |
11: 93,999,278 (GRCm39) |
|
probably null |
Het |
| Sptbn1 |
T |
C |
11: 30,087,301 (GRCm39) |
E1033G |
probably damaging |
Het |
| Timm17a |
T |
G |
1: 135,237,540 (GRCm39) |
Q39P |
probably damaging |
Het |
| Tmem26 |
A |
T |
10: 68,587,103 (GRCm39) |
T184S |
probably damaging |
Het |
| Tpi1 |
A |
T |
6: 124,789,891 (GRCm39) |
|
probably null |
Het |
| Tssk5 |
T |
C |
15: 76,258,003 (GRCm39) |
Y118C |
possibly damaging |
Het |
| Ttll4 |
T |
A |
1: 74,736,629 (GRCm39) |
L1118Q |
possibly damaging |
Het |
| Ttll5 |
T |
A |
12: 85,969,788 (GRCm39) |
L691Q |
probably damaging |
Het |
| Vmn1r49 |
A |
T |
6: 90,049,623 (GRCm39) |
H126Q |
possibly damaging |
Het |
| Zfp518b |
A |
T |
5: 38,829,224 (GRCm39) |
V927E |
probably damaging |
Het |
| Zfp618 |
T |
C |
4: 63,013,774 (GRCm39) |
F213S |
probably damaging |
Het |
| Zfp759 |
T |
A |
13: 67,287,668 (GRCm39) |
N406K |
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 |
|
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'- TTCTCAAGGTGTGGTCCAGAGTCC -3'
(R):5'- GAAGACCCTAATCGGCATCCATAGC -3'
Sequencing Primer
(F):5'- AGCACTCTCAGGGGAACTTTC -3'
(R):5'- CTTCACTGAGGAGCACTGTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation