Incidental Mutation 'R8160:Cdh24'
| ID |
633486 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh24
|
| Ensembl Gene |
ENSMUSG00000059674 |
| Gene Name |
cadherin-like 24 |
| Synonyms |
EY-cadherin, ENSMUSG00000022188, cadherin 14-like, 1700040A22Rik |
| MMRRC Submission |
067586-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
R8160 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
54868688-54878821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 54875946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 208
(V208F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022793]
[ENSMUST00000022794]
[ENSMUST00000067784]
[ENSMUST00000111484]
[ENSMUST00000126166]
[ENSMUST00000141453]
[ENSMUST00000148754]
[ENSMUST00000150371]
[ENSMUST00000167015]
[ENSMUST00000169818]
|
| AlphaFold |
Q6PFX6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022793
|
| SMART Domains |
Protein: ENSMUSP00000022793
Gene: ENSMUSG00000022185
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
72 |
106 |
1.29e-8 |
SMART |
|
coiled coil region
|
138 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
220 |
N/A |
INTRINSIC |
|
coiled coil region
|
259 |
300 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
573 |
603 |
N/A |
INTRINSIC |
|
low complexity region
|
631 |
662 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
743 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
778 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
803 |
813 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
817 |
892 |
1.63e-6 |
PROSPERO |
|
low complexity region
|
927 |
952 |
N/A |
INTRINSIC |
|
RRM
|
1012 |
1081 |
8.3e-2 |
SMART |
|
Pfam:RSB_motif
|
1139 |
1246 |
5.7e-30 |
PFAM |
|
low complexity region
|
1275 |
1329 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022794
|
| SMART Domains |
Protein: ENSMUSP00000022794
Gene: ENSMUSG00000022185
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
194 |
N/A |
INTRINSIC |
|
RRM
|
254 |
323 |
8.3e-2 |
SMART |
|
low complexity region
|
355 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
450 |
N/A |
INTRINSIC |
|
PDB:4A8X|B
|
451 |
475 |
4e-6 |
PDB |
|
low complexity region
|
477 |
512 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
571 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067784
AA Change: V208F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000066005
Gene: ENSMUSG00000059674
AA Change: V208F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
CA
|
67 |
148 |
7.85e-18 |
SMART |
|
CA
|
172 |
257 |
3.23e-28 |
SMART |
|
CA
|
281 |
369 |
4.24e-14 |
SMART |
|
CA
|
396 |
477 |
1.48e-22 |
SMART |
|
Blast:CA
|
500 |
581 |
3e-31 |
BLAST |
|
transmembrane domain
|
602 |
624 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
627 |
775 |
2e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111484
|
| SMART Domains |
Protein: ENSMUSP00000107109
Gene: ENSMUSG00000022185
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
72 |
106 |
1.29e-8 |
SMART |
|
coiled coil region
|
138 |
172 |
N/A |
INTRINSIC |
|
coiled coil region
|
219 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
356 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
563 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
694 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
720 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
738 |
752 |
N/A |
INTRINSIC |
|
low complexity region
|
763 |
773 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
777 |
852 |
1.21e-6 |
PROSPERO |
|
low complexity region
|
887 |
912 |
N/A |
INTRINSIC |
|
RRM
|
972 |
1041 |
8.3e-2 |
SMART |
|
low complexity region
|
1073 |
1123 |
N/A |
INTRINSIC |
|
low complexity region
|
1130 |
1168 |
N/A |
INTRINSIC |
|
coiled coil region
|
1188 |
1253 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126166
|
| SMART Domains |
Protein: ENSMUSP00000114546
Gene: ENSMUSG00000022185
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
179 |
N/A |
INTRINSIC |
|
RRM
|
239 |
308 |
8.3e-2 |
SMART |
|
low complexity region
|
340 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
435 |
N/A |
INTRINSIC |
|
PDB:4A8X|B
|
436 |
460 |
4e-6 |
PDB |
|
low complexity region
|
462 |
497 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
556 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138321
|
| SMART Domains |
Protein: ENSMUSP00000119326
Gene: ENSMUSG00000022185
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RSB_motif
|
20 |
128 |
4.7e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141453
|
| SMART Domains |
Protein: ENSMUSP00000116664
Gene: ENSMUSG00000022185
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
166 |
N/A |
INTRINSIC |
|
RRM
|
226 |
295 |
8.3e-2 |
SMART |
|
low complexity region
|
327 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
384 |
422 |
N/A |
INTRINSIC |
|
PDB:4A8X|B
|
423 |
447 |
4e-6 |
PDB |
|
low complexity region
|
449 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
543 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147714
|
| SMART Domains |
Protein: ENSMUSP00000119080
Gene: ENSMUSG00000022185
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
18 |
52 |
1.29e-8 |
SMART |
|
coiled coil region
|
83 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
166 |
N/A |
INTRINSIC |
|
coiled coil region
|
204 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
360 |
369 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
549 |
N/A |
INTRINSIC |
|
low complexity region
|
577 |
608 |
N/A |
INTRINSIC |
|
low complexity region
|
680 |
689 |
N/A |
INTRINSIC |
|
low complexity region
|
706 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
724 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
749 |
759 |
N/A |
INTRINSIC |
|
low complexity region
|
861 |
886 |
N/A |
INTRINSIC |
|
RRM
|
946 |
1015 |
8.3e-2 |
SMART |
|
Pfam:RSB_motif
|
1065 |
1180 |
1.1e-29 |
PFAM |
|
low complexity region
|
1209 |
1263 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148754
|
| SMART Domains |
Protein: ENSMUSP00000122003
Gene: ENSMUSG00000022185
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
195 |
N/A |
INTRINSIC |
|
RRM
|
255 |
324 |
8.3e-2 |
SMART |
|
low complexity region
|
356 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
451 |
N/A |
INTRINSIC |
|
PDB:4A8X|B
|
452 |
476 |
4e-6 |
PDB |
|
low complexity region
|
478 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
572 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150371
|
| SMART Domains |
Protein: ENSMUSP00000118069
Gene: ENSMUSG00000022185
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
248 |
N/A |
INTRINSIC |
|
RRM
|
308 |
377 |
8.3e-2 |
SMART |
|
low complexity region
|
409 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
504 |
N/A |
INTRINSIC |
|
PDB:4A8X|B
|
505 |
529 |
3e-6 |
PDB |
|
low complexity region
|
531 |
566 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
625 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167015
|
| SMART Domains |
Protein: ENSMUSP00000125776
Gene: ENSMUSG00000022185
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
195 |
N/A |
INTRINSIC |
|
RRM
|
255 |
324 |
8.3e-2 |
SMART |
|
low complexity region
|
356 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
451 |
N/A |
INTRINSIC |
|
PDB:4A8X|B
|
452 |
476 |
4e-6 |
PDB |
|
low complexity region
|
478 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
572 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169818
|
| SMART Domains |
Protein: ENSMUSP00000131860
Gene: ENSMUSG00000091306
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
61 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.7%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
C |
T |
7: 133,569,770 (GRCm39) |
|
probably null |
Het |
| Aldh8a1 |
A |
G |
10: 21,271,690 (GRCm39) |
D472G |
possibly damaging |
Het |
| Appl1 |
T |
C |
14: 26,650,592 (GRCm39) |
I527V |
probably benign |
Het |
| Arhgef4 |
C |
A |
1: 34,762,655 (GRCm39) |
T637K |
unknown |
Het |
| Atp7b |
G |
A |
8: 22,487,575 (GRCm39) |
A1273V |
probably damaging |
Het |
| Ccl20 |
T |
A |
1: 83,095,543 (GRCm39) |
S35T |
|
Het |
| Dchs2 |
A |
T |
3: 83,178,112 (GRCm39) |
Q1055L |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,124,711 (GRCm39) |
R1009Q |
probably damaging |
Het |
| Ext2 |
A |
T |
2: 93,644,107 (GRCm39) |
V58E |
probably benign |
Het |
| Fam209 |
A |
T |
2: 172,314,645 (GRCm39) |
I45F |
possibly damaging |
Het |
| Hfm1 |
T |
C |
5: 107,043,899 (GRCm39) |
Y579C |
probably null |
Het |
| Hipk4 |
C |
T |
7: 27,223,186 (GRCm39) |
A82V |
possibly damaging |
Het |
| Il17rc |
A |
G |
6: 113,453,489 (GRCm39) |
Y223C |
possibly damaging |
Het |
| Itsn1 |
G |
A |
16: 91,615,446 (GRCm39) |
R397H |
unknown |
Het |
| Kdm5b |
T |
A |
1: 134,541,657 (GRCm39) |
M744K |
probably damaging |
Het |
| Mettl16 |
T |
C |
11: 74,708,505 (GRCm39) |
V568A |
probably damaging |
Het |
| Mink1 |
C |
T |
11: 70,496,907 (GRCm39) |
Q422* |
probably null |
Het |
| Mvb12b |
G |
T |
2: 33,730,234 (GRCm39) |
D81E |
probably benign |
Het |
| Nostrin |
A |
T |
2: 69,009,810 (GRCm39) |
I313F |
probably damaging |
Het |
| Nsun6 |
A |
G |
2: 15,014,219 (GRCm39) |
|
probably null |
Het |
| Nt5dc1 |
T |
A |
10: 34,200,392 (GRCm39) |
E209V |
possibly damaging |
Het |
| Oasl2 |
T |
C |
5: 115,039,347 (GRCm39) |
|
probably benign |
Het |
| Or10a49 |
C |
T |
7: 108,467,995 (GRCm39) |
R122Q |
possibly damaging |
Het |
| Or6aa1 |
C |
T |
7: 86,044,473 (GRCm39) |
V78M |
possibly damaging |
Het |
| Or7e166 |
T |
A |
9: 19,624,085 (GRCm39) |
|
probably benign |
Het |
| Ppm1h |
A |
T |
10: 122,638,341 (GRCm39) |
T204S |
probably benign |
Het |
| Rad51b |
T |
A |
12: 79,350,115 (GRCm39) |
L70I |
probably benign |
Het |
| Smok3c |
A |
G |
5: 138,063,286 (GRCm39) |
T258A |
possibly damaging |
Het |
| Snai2 |
T |
C |
16: 14,524,668 (GRCm39) |
V58A |
possibly damaging |
Het |
| Spmip7 |
T |
C |
11: 11,437,734 (GRCm39) |
S246P |
unknown |
Het |
| St6galnac1 |
G |
A |
11: 116,666,316 (GRCm39) |
|
probably benign |
Het |
| Tasor |
T |
A |
14: 27,171,913 (GRCm39) |
N420K |
probably damaging |
Het |
|
| Other mutations in Cdh24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01362:Cdh24
|
APN |
14 |
54,875,889 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02597:Cdh24
|
APN |
14 |
54,870,972 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0088:Cdh24
|
UTSW |
14 |
54,871,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0480:Cdh24
|
UTSW |
14 |
54,870,054 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0890:Cdh24
|
UTSW |
14 |
54,870,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1525:Cdh24
|
UTSW |
14 |
54,876,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1591:Cdh24
|
UTSW |
14 |
54,873,799 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1727:Cdh24
|
UTSW |
14 |
54,876,095 (GRCm39) |
nonsense |
probably null |
|
|
R3757:Cdh24
|
UTSW |
14 |
54,869,637 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4786:Cdh24
|
UTSW |
14 |
54,875,007 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4921:Cdh24
|
UTSW |
14 |
54,870,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4929:Cdh24
|
UTSW |
14 |
54,870,973 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5116:Cdh24
|
UTSW |
14 |
54,873,870 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5589:Cdh24
|
UTSW |
14 |
54,874,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5682:Cdh24
|
UTSW |
14 |
54,874,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5774:Cdh24
|
UTSW |
14 |
54,876,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6305:Cdh24
|
UTSW |
14 |
54,869,813 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7090:Cdh24
|
UTSW |
14 |
54,876,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7186:Cdh24
|
UTSW |
14 |
54,870,949 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7361:Cdh24
|
UTSW |
14 |
54,876,378 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7488:Cdh24
|
UTSW |
14 |
54,869,637 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7623:Cdh24
|
UTSW |
14 |
54,875,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7823:Cdh24
|
UTSW |
14 |
54,874,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7973:Cdh24
|
UTSW |
14 |
54,876,477 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8017:Cdh24
|
UTSW |
14 |
54,876,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8019:Cdh24
|
UTSW |
14 |
54,876,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8029:Cdh24
|
UTSW |
14 |
54,876,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8070:Cdh24
|
UTSW |
14 |
54,870,030 (GRCm39) |
missense |
probably benign |
|
|
R8692:Cdh24
|
UTSW |
14 |
54,875,793 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8862:Cdh24
|
UTSW |
14 |
54,869,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8915:Cdh24
|
UTSW |
14 |
54,876,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9161:Cdh24
|
UTSW |
14 |
54,876,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9212:Cdh24
|
UTSW |
14 |
54,878,679 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATTAAAGGATTGTTTGGGCACAG -3'
(R):5'- GGACGTCTGTAATCCAAGTGAC -3'
Sequencing Primer
(F):5'- ATTGTTTGGGCACAGAACTGC -3'
(R):5'- TGTAATCCAAGTGACTGCTCAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation