Incidental Mutation 'IGL02635:Cdhr4'
| ID |
301478 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02635
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
107869696-107876883 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107870070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 25
(M25K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000175759]
[ENSMUST00000177173]
[ENSMUST00000177368]
[ENSMUST00000176373]
[ENSMUST00000177508]
[ENSMUST00000176306]
|
| AlphaFold |
H3BJZ2 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000035215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175729
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175759
|
| SMART Domains |
Protein: ENSMUSP00000135743
Gene: ENSMUSG00000032595
| 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: ENSMUST00000176166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176183
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176382
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177173
AA Change: M25K
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000135184
Gene: ENSMUSG00000032595
AA Change: M25K
| 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: ENSMUST00000177516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177226
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176919
|
| 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 |
|
| 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: 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: ENSMUST00000176306
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176334
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730018C14Rik |
A |
C |
12: 112,381,586 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc12 |
C |
T |
8: 87,236,311 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,120,500 (GRCm39) |
S3639P |
possibly damaging |
Het |
| Ankar |
C |
T |
1: 72,691,590 (GRCm39) |
V1124I |
possibly damaging |
Het |
| AW209491 |
C |
T |
13: 14,811,852 (GRCm39) |
A235V |
possibly damaging |
Het |
| Cask |
A |
T |
X: 13,581,009 (GRCm39) |
D58E |
probably damaging |
Het |
| Clasp2 |
A |
G |
9: 113,737,910 (GRCm39) |
I1096V |
probably damaging |
Het |
| Fam234a |
T |
A |
17: 26,433,427 (GRCm39) |
I410F |
possibly damaging |
Het |
| Gbe1 |
T |
C |
16: 70,365,902 (GRCm39) |
L693P |
probably damaging |
Het |
| Golgb1 |
G |
T |
16: 36,735,375 (GRCm39) |
V1541L |
probably benign |
Het |
| Gpr143 |
G |
A |
X: 151,591,257 (GRCm39) |
E382K |
probably damaging |
Het |
| Gpr171 |
C |
T |
3: 59,005,017 (GRCm39) |
V253I |
probably benign |
Het |
| Gsap |
T |
A |
5: 21,494,814 (GRCm39) |
W10R |
probably damaging |
Het |
| Hsd17b12 |
T |
A |
2: 93,913,556 (GRCm39) |
D116V |
possibly damaging |
Het |
| Ifih1 |
A |
T |
2: 62,442,173 (GRCm39) |
L348Q |
probably damaging |
Het |
| Ighv1-50 |
G |
A |
12: 115,083,615 (GRCm39) |
A35V |
probably benign |
Het |
| Lrcol1 |
A |
C |
5: 110,502,459 (GRCm39) |
M112L |
probably benign |
Het |
| Lrrc59 |
T |
A |
11: 94,534,282 (GRCm39) |
V280E |
probably damaging |
Het |
| Med17 |
A |
T |
9: 15,185,845 (GRCm39) |
I223K |
probably damaging |
Het |
| Oog3 |
T |
C |
4: 143,884,715 (GRCm39) |
N407S |
probably damaging |
Het |
| Or4e1 |
T |
C |
14: 52,701,251 (GRCm39) |
I72V |
probably damaging |
Het |
| Pear1 |
T |
C |
3: 87,657,453 (GRCm39) |
*1035W |
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,791,785 (GRCm39) |
F1157L |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,135,842 (GRCm39) |
|
probably benign |
Het |
| Ppl |
T |
C |
16: 4,907,631 (GRCm39) |
E888G |
probably benign |
Het |
| Prh1 |
G |
A |
6: 132,549,246 (GRCm39) |
G251E |
unknown |
Het |
| Prkar2a |
A |
G |
9: 108,605,476 (GRCm39) |
E178G |
probably damaging |
Het |
| Rfx6 |
A |
T |
10: 51,592,122 (GRCm39) |
T352S |
possibly damaging |
Het |
| S1pr1 |
T |
C |
3: 115,505,739 (GRCm39) |
K285R |
probably benign |
Het |
| Slc12a1 |
A |
G |
2: 125,067,898 (GRCm39) |
H995R |
probably benign |
Het |
| Slc25a54 |
T |
A |
3: 109,020,133 (GRCm39) |
N382K |
possibly damaging |
Het |
| Snrnp48 |
T |
G |
13: 38,393,845 (GRCm39) |
|
probably benign |
Het |
| Spg11 |
T |
C |
2: 121,943,549 (GRCm39) |
D201G |
possibly damaging |
Het |
| Stox1 |
T |
C |
10: 62,500,685 (GRCm39) |
D625G |
probably benign |
Het |
| Supt6 |
T |
C |
11: 78,103,565 (GRCm39) |
H1380R |
probably damaging |
Het |
| Tcp1 |
T |
A |
17: 13,142,296 (GRCm39) |
M430K |
probably benign |
Het |
| Tlr12 |
A |
T |
4: 128,510,609 (GRCm39) |
V547E |
probably damaging |
Het |
| Tmem255b |
G |
T |
8: 13,505,195 (GRCm39) |
D167Y |
probably damaging |
Het |
| Trpc7 |
T |
C |
13: 56,923,981 (GRCm39) |
R735G |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,848,972 (GRCm39) |
T73A |
probably benign |
Het |
| Ubr3 |
A |
T |
2: 69,850,827 (GRCm39) |
L1748F |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,338,254 (GRCm39) |
I165T |
possibly damaging |
Het |
| Ybx1 |
T |
C |
4: 119,136,286 (GRCm39) |
N282S |
possibly damaging |
Het |
| Zdhhc12 |
T |
A |
2: 29,983,531 (GRCm39) |
I24F |
probably damaging |
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 |
|
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 |
|
R4106:Cdhr4
|
UTSW |
9 |
107,873,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation