Incidental Mutation 'IGL03162:Cdhr4'
| ID |
411477 |
| 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 # |
IGL03162
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
107869696-107876883 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 107875210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 70
(G70D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035214]
[ENSMUST00000164395]
[ENSMUST00000175759]
[ENSMUST00000176356]
[ENSMUST00000176373]
[ENSMUST00000176854]
[ENSMUST00000175874]
[ENSMUST00000176306]
[ENSMUST00000177173]
[ENSMUST00000177508]
[ENSMUST00000177368]
|
| AlphaFold |
H3BJZ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035214
|
| SMART Domains |
Protein: ENSMUSP00000035214
Gene: ENSMUSG00000032594
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
114 |
129 |
N/A |
INTRINSIC |
|
Pfam:IPK
|
207 |
426 |
2.2e-67 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000035215
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175729
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175759
AA Change: G135D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135743
Gene: ENSMUSG00000032595
AA Change: G135D
| 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 |
unknown
Transcript: ENSMUST00000176356
AA Change: G8D
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176373
AA Change: G27D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134896
Gene: ENSMUSG00000032595
AA Change: G27D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176334
AA Change: G115D
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176183
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175891
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176919
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176382
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176196
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176854
|
| SMART Domains |
Protein: ENSMUSP00000141232
Gene: ENSMUSG00000032594
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
114 |
129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175874
|
| SMART Domains |
Protein: ENSMUSP00000135747
Gene: ENSMUSG00000032594
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
114 |
129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176459
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176306
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177173
AA Change: G690D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135184
Gene: ENSMUSG00000032595
AA Change: G690D
| 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 |
probably damaging
Transcript: ENSMUST00000177508
AA Change: G70D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135332
Gene: ENSMUSG00000032595
AA Change: G70D
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
1 |
29 |
4e-7 |
BLAST |
|
transmembrane domain
|
60 |
82 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177396
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177093
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177226
|
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
A |
15: 60,791,581 (GRCm39) |
D92V |
probably damaging |
Het |
| Acsl3 |
T |
C |
1: 78,676,887 (GRCm39) |
|
probably null |
Het |
| Adam5 |
T |
C |
8: 25,271,620 (GRCm39) |
T596A |
probably benign |
Het |
| Adh6a |
T |
A |
3: 138,034,880 (GRCm39) |
Y336* |
probably null |
Het |
| Ak3 |
A |
T |
19: 29,000,236 (GRCm39) |
V225D |
possibly damaging |
Het |
| Aldh1a7 |
T |
A |
19: 20,685,645 (GRCm39) |
I302F |
probably benign |
Het |
| Amdhd1 |
T |
C |
10: 93,367,337 (GRCm39) |
|
probably null |
Het |
| Arhgef18 |
G |
A |
8: 3,491,301 (GRCm39) |
|
probably null |
Het |
| Caap1 |
A |
T |
4: 94,389,261 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,719,757 (GRCm39) |
F2445S |
probably damaging |
Het |
| Cenpc1 |
A |
G |
5: 86,185,764 (GRCm39) |
V249A |
possibly damaging |
Het |
| Clca3a2 |
C |
A |
3: 144,512,177 (GRCm39) |
V80F |
probably damaging |
Het |
| Col6a1 |
T |
A |
10: 76,553,885 (GRCm39) |
|
probably benign |
Het |
| Commd10 |
T |
A |
18: 47,220,117 (GRCm39) |
L198Q |
probably damaging |
Het |
| Cyp2d40 |
A |
G |
15: 82,644,243 (GRCm39) |
L294P |
unknown |
Het |
| E2f6 |
T |
A |
12: 16,868,909 (GRCm39) |
D77E |
probably benign |
Het |
| Elf5 |
T |
A |
2: 103,260,751 (GRCm39) |
H38Q |
possibly damaging |
Het |
| Entrep1 |
T |
G |
19: 23,965,824 (GRCm39) |
H225P |
probably damaging |
Het |
| Fcrl6 |
A |
G |
1: 172,425,820 (GRCm39) |
V227A |
probably damaging |
Het |
| Fhip2b |
G |
T |
14: 70,824,994 (GRCm39) |
D447E |
probably damaging |
Het |
| Gabarapl2 |
T |
A |
8: 112,669,168 (GRCm39) |
V42D |
probably benign |
Het |
| Gm3543 |
A |
G |
14: 41,802,022 (GRCm39) |
I154T |
possibly damaging |
Het |
| Gpr150 |
T |
A |
13: 76,204,950 (GRCm39) |
|
probably benign |
Het |
| Gstp3 |
A |
G |
19: 4,109,255 (GRCm39) |
|
probably benign |
Het |
| Gzmm |
C |
T |
10: 79,528,790 (GRCm39) |
T64I |
probably damaging |
Het |
| Hs3st1 |
T |
A |
5: 39,771,792 (GRCm39) |
K284* |
probably null |
Het |
| Ints7 |
A |
G |
1: 191,353,524 (GRCm39) |
|
probably benign |
Het |
| Itih2 |
A |
T |
2: 10,131,055 (GRCm39) |
I94N |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,744,497 (GRCm39) |
N1531S |
probably benign |
Het |
| Kif27 |
T |
C |
13: 58,459,021 (GRCm39) |
S937G |
probably benign |
Het |
| Klhl2 |
A |
G |
8: 65,207,426 (GRCm39) |
V311A |
probably damaging |
Het |
| Klrb1b |
T |
A |
6: 128,795,892 (GRCm39) |
Q109L |
probably null |
Het |
| Lrig2 |
A |
G |
3: 104,371,613 (GRCm39) |
F697L |
probably damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,764,725 (GRCm39) |
R773G |
probably benign |
Het |
| Mrgpra2b |
C |
T |
7: 47,113,815 (GRCm39) |
V306I |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,368,463 (GRCm39) |
H1127R |
probably benign |
Het |
| Nr3c2 |
A |
T |
8: 77,944,213 (GRCm39) |
D816V |
probably damaging |
Het |
| Ntmt2 |
T |
A |
1: 163,530,783 (GRCm39) |
I219L |
probably damaging |
Het |
| Or10a3 |
T |
C |
7: 108,480,811 (GRCm39) |
M1V |
probably null |
Het |
| Or5w19 |
A |
C |
2: 87,698,484 (GRCm39) |
M50L |
probably benign |
Het |
| Pdxdc1 |
A |
G |
16: 13,675,281 (GRCm39) |
L350P |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Pnpla7 |
T |
C |
2: 24,905,301 (GRCm39) |
|
probably benign |
Het |
| Ppan |
T |
G |
9: 20,802,608 (GRCm39) |
L283R |
probably damaging |
Het |
| Rbfox3 |
A |
C |
11: 118,387,257 (GRCm39) |
S286A |
probably benign |
Het |
| Rbl2 |
A |
G |
8: 91,812,330 (GRCm39) |
T273A |
probably benign |
Het |
| Recql4 |
G |
T |
15: 76,590,296 (GRCm39) |
|
probably null |
Het |
| Slc22a26 |
T |
A |
19: 7,779,466 (GRCm39) |
M117L |
probably benign |
Het |
| Sult2a2 |
T |
A |
7: 13,468,822 (GRCm39) |
I96K |
probably damaging |
Het |
| Tcf15 |
G |
A |
2: 151,990,626 (GRCm39) |
R175H |
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,247,037 (GRCm39) |
V320D |
probably damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,286 (GRCm39) |
N617S |
probably damaging |
Het |
| Vpreb3 |
A |
G |
10: 75,785,133 (GRCm39) |
Y77C |
probably damaging |
Het |
| Zbbx |
A |
T |
3: 74,978,930 (GRCm39) |
|
probably benign |
Het |
| Zfand6 |
A |
T |
7: 84,283,185 (GRCm39) |
S57R |
probably benign |
Het |
| Zmym2 |
A |
G |
14: 57,151,500 (GRCm39) |
I462V |
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 |
|
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 |
2016-08-02 |
Incidental Mutation