Incidental Mutation 'R4106:Cdhr4'
ID |
321397 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdhr4
|
Ensembl Gene |
ENSMUSG00000032595 |
Gene Name |
cadherin-related family member 4 |
Synonyms |
D330022A01Rik, 1700021K14Rik, Cdh29 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.230)
|
Stock # |
R4106 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
107869696-107876883 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 107873459 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 397
(D397G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135184
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000175759]
[ENSMUST00000177173]
[ENSMUST00000176356]
[ENSMUST00000176306]
[ENSMUST00000176373]
[ENSMUST00000177508]
[ENSMUST00000177368]
|
AlphaFold |
H3BJZ2 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000035215
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175729
|
Predicted Effect |
unknown
Transcript: ENSMUST00000175759
AA Change: D34G
|
SMART Domains |
Protein: ENSMUSP00000135743 Gene: ENSMUSG00000032595 AA Change: D34G
Domain | Start | End | E-Value | Type |
Blast:CA
|
3 |
104 |
4e-44 |
BLAST |
SCOP:d1l3wa3
|
59 |
104 |
4e-7 |
SMART |
transmembrane domain
|
125 |
147 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175802
|
SMART Domains |
Protein: ENSMUSP00000135003 Gene: ENSMUSG00000032595
Domain | Start | End | E-Value | Type |
CA
|
33 |
116 |
5.4e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175891
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176166
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176183
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177173
AA Change: D397G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135184 Gene: ENSMUSG00000032595 AA Change: D397G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
low complexity region
|
80 |
91 |
N/A |
INTRINSIC |
Blast:CA
|
149 |
224 |
2e-9 |
BLAST |
Blast:CA
|
252 |
330 |
3e-33 |
BLAST |
CA
|
354 |
437 |
2.24e-1 |
SMART |
CA
|
459 |
542 |
5.86e-17 |
SMART |
Blast:CA
|
566 |
649 |
3e-40 |
BLAST |
transmembrane domain
|
680 |
702 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177093
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176919
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176196
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176382
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176454
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176459
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176356
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176306
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176373
|
SMART Domains |
Protein: ENSMUSP00000134896 Gene: ENSMUSG00000032595
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176334
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177516
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177226
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177508
|
SMART Domains |
Protein: ENSMUSP00000135332 Gene: ENSMUSG00000032595
Domain | Start | End | E-Value | Type |
Blast:CA
|
1 |
29 |
4e-7 |
BLAST |
transmembrane domain
|
60 |
82 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177368
|
SMART Domains |
Protein: ENSMUSP00000135553 Gene: ENSMUSG00000079323
Domain | Start | End | E-Value | Type |
Blast:UBA_e1_C
|
1 |
39 |
1e-10 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
G |
T |
5: 121,769,527 (GRCm39) |
S643Y |
probably damaging |
Het |
Acox3 |
T |
C |
5: 35,758,896 (GRCm39) |
F369S |
probably damaging |
Het |
Cacna1a |
A |
G |
8: 85,310,324 (GRCm39) |
I1461V |
possibly damaging |
Het |
Cdc42bpb |
A |
C |
12: 111,261,579 (GRCm39) |
V107G |
probably benign |
Het |
Chd1l |
T |
C |
3: 97,505,019 (GRCm39) |
T183A |
probably benign |
Het |
Cnbd2 |
T |
C |
2: 156,177,318 (GRCm39) |
V92A |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cyp2j7 |
T |
C |
4: 96,087,687 (GRCm39) |
T408A |
possibly damaging |
Het |
H2-T24 |
A |
G |
17: 36,328,370 (GRCm39) |
S38P |
possibly damaging |
Het |
Mapkapk3 |
A |
G |
9: 107,134,265 (GRCm39) |
V333A |
probably damaging |
Het |
Muc5ac |
T |
G |
7: 141,356,572 (GRCm39) |
V1053G |
possibly damaging |
Het |
Myh1 |
T |
C |
11: 67,102,403 (GRCm39) |
V898A |
probably benign |
Het |
Nnt |
T |
C |
13: 119,533,327 (GRCm39) |
I113V |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or5d38 |
A |
T |
2: 87,954,817 (GRCm39) |
C171S |
possibly damaging |
Het |
Rpl10a |
T |
A |
17: 28,549,933 (GRCm39) |
Y205N |
probably benign |
Het |
Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
Scn3a |
A |
G |
2: 65,325,379 (GRCm39) |
I1046T |
probably benign |
Het |
Sertad4 |
AGAGGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGAGGA |
1: 192,529,050 (GRCm39) |
|
probably benign |
Het |
Sipa1l2 |
T |
C |
8: 126,219,047 (GRCm39) |
K97E |
probably damaging |
Het |
Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
Slc22a6 |
A |
G |
19: 8,595,874 (GRCm39) |
Q72R |
probably benign |
Het |
St8sia2 |
A |
C |
7: 73,610,509 (GRCm39) |
L258R |
probably damaging |
Het |
Tas1r2 |
G |
A |
4: 139,387,363 (GRCm39) |
R245H |
probably benign |
Het |
Tcerg1l |
A |
G |
7: 137,861,673 (GRCm39) |
V352A |
probably damaging |
Het |
Tpo |
G |
A |
12: 30,142,585 (GRCm39) |
P713L |
probably damaging |
Het |
Tpp2 |
T |
C |
1: 44,040,617 (GRCm39) |
Y293H |
possibly damaging |
Het |
Ttn |
G |
C |
2: 76,581,215 (GRCm39) |
A23226G |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,608,809 (GRCm39) |
V15990I |
probably benign |
Het |
|
Other mutations in Cdhr4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00539:Cdhr4
|
APN |
9 |
107,876,744 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01105:Cdhr4
|
APN |
9 |
107,873,060 (GRCm39) |
unclassified |
probably benign |
|
IGL02097:Cdhr4
|
APN |
9 |
107,870,199 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02441:Cdhr4
|
APN |
9 |
107,870,466 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02635:Cdhr4
|
APN |
9 |
107,870,070 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02870:Cdhr4
|
APN |
9 |
107,875,263 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03160:Cdhr4
|
APN |
9 |
107,873,068 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03162:Cdhr4
|
APN |
9 |
107,875,210 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03250:Cdhr4
|
APN |
9 |
107,873,858 (GRCm39) |
missense |
probably damaging |
0.99 |
R0233:Cdhr4
|
UTSW |
9 |
107,874,133 (GRCm39) |
missense |
probably benign |
0.25 |
R0233:Cdhr4
|
UTSW |
9 |
107,874,133 (GRCm39) |
missense |
probably benign |
0.25 |
R1241:Cdhr4
|
UTSW |
9 |
107,872,495 (GRCm39) |
missense |
probably benign |
0.00 |
R1250:Cdhr4
|
UTSW |
9 |
107,874,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R2102:Cdhr4
|
UTSW |
9 |
107,875,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R2104:Cdhr4
|
UTSW |
9 |
107,873,460 (GRCm39) |
missense |
probably damaging |
0.97 |
R2106:Cdhr4
|
UTSW |
9 |
107,874,693 (GRCm39) |
missense |
possibly damaging |
0.75 |
R2108:Cdhr4
|
UTSW |
9 |
107,874,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R2171:Cdhr4
|
UTSW |
9 |
107,870,117 (GRCm39) |
missense |
probably benign |
0.00 |
R2312:Cdhr4
|
UTSW |
9 |
107,872,486 (GRCm39) |
missense |
probably benign |
0.00 |
R4515:Cdhr4
|
UTSW |
9 |
107,870,150 (GRCm39) |
missense |
probably benign |
0.31 |
R4686:Cdhr4
|
UTSW |
9 |
107,872,883 (GRCm39) |
missense |
probably benign |
0.00 |
R4799:Cdhr4
|
UTSW |
9 |
107,875,898 (GRCm39) |
splice site |
probably benign |
|
R5165:Cdhr4
|
UTSW |
9 |
107,874,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R5478:Cdhr4
|
UTSW |
9 |
107,872,790 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5574:Cdhr4
|
UTSW |
9 |
107,870,527 (GRCm39) |
unclassified |
probably benign |
|
R7387:Cdhr4
|
UTSW |
9 |
107,874,111 (GRCm39) |
nonsense |
probably null |
|
R7609:Cdhr4
|
UTSW |
9 |
107,874,482 (GRCm39) |
missense |
probably damaging |
0.99 |
R7663:Cdhr4
|
UTSW |
9 |
107,875,971 (GRCm39) |
nonsense |
probably null |
|
R8141:Cdhr4
|
UTSW |
9 |
107,873,991 (GRCm39) |
missense |
|
|
R8483:Cdhr4
|
UTSW |
9 |
107,872,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R8493:Cdhr4
|
UTSW |
9 |
107,873,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R8715:Cdhr4
|
UTSW |
9 |
107,874,596 (GRCm39) |
missense |
|
|
R8816:Cdhr4
|
UTSW |
9 |
107,872,791 (GRCm39) |
missense |
possibly damaging |
0.56 |
R9392:Cdhr4
|
UTSW |
9 |
107,873,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTATACTCCATGCAGGCAAAGTG -3'
(R):5'- CCTGACCTTCTAGCTTTCGAGG -3'
Sequencing Primer
(F):5'- CCAAGGTTTGTTGGCATTGAGAAC -3'
(R):5'- CCTTCTAGCTTTCGAGGGGAAAAAG -3'
|
Posted On |
2015-06-12 |