Incidental Mutation 'IGL00321:Pcdh11x'
| ID |
332246 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcdh11x
|
| Ensembl Gene |
ENSMUSG00000034755 |
| Gene Name |
protocadherin 11 X-linked |
| Synonyms |
A230092L07Rik, PCDHX |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
IGL00321
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
119199956-119820316 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119502265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 1029
(K1029N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050239]
[ENSMUST00000113358]
[ENSMUST00000113364]
[ENSMUST00000155223]
[ENSMUST00000191653]
[ENSMUST00000192677]
[ENSMUST00000195088]
|
| AlphaFold |
F6ZNL5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050239
AA Change: K1029N
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000052340
Gene: ENSMUSG00000034755
AA Change: K1029N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
CA
|
52 |
137 |
8.24e-1 |
SMART |
|
CA
|
161 |
247 |
2.22e-17 |
SMART |
|
CA
|
271 |
353 |
2.04e-25 |
SMART |
|
CA
|
383 |
464 |
1.18e-12 |
SMART |
|
CA
|
488 |
568 |
2.38e-26 |
SMART |
|
CA
|
592 |
671 |
7.09e-25 |
SMART |
|
CA
|
698 |
780 |
5.92e-4 |
SMART |
|
low complexity region
|
978 |
996 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113358
|
| SMART Domains |
Protein: ENSMUSP00000108985
Gene: ENSMUSG00000034755
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
CA
|
52 |
137 |
8.24e-1 |
SMART |
|
CA
|
161 |
247 |
2.22e-17 |
SMART |
|
CA
|
271 |
353 |
2.04e-25 |
SMART |
|
CA
|
383 |
464 |
1.18e-12 |
SMART |
|
CA
|
488 |
568 |
2.38e-26 |
SMART |
|
CA
|
592 |
671 |
7.09e-25 |
SMART |
|
CA
|
698 |
780 |
5.92e-4 |
SMART |
|
low complexity region
|
978 |
996 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113364
|
| SMART Domains |
Protein: ENSMUSP00000108991
Gene: ENSMUSG00000034755
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
CA
|
52 |
137 |
8.24e-1 |
SMART |
|
CA
|
161 |
247 |
2.22e-17 |
SMART |
|
CA
|
271 |
353 |
2.04e-25 |
SMART |
|
CA
|
383 |
464 |
1.18e-12 |
SMART |
|
CA
|
488 |
568 |
2.38e-26 |
SMART |
|
CA
|
592 |
671 |
7.09e-25 |
SMART |
|
CA
|
698 |
780 |
5.92e-4 |
SMART |
|
transmembrane domain
|
813 |
835 |
N/A |
INTRINSIC |
|
low complexity region
|
978 |
996 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155223
|
| SMART Domains |
Protein: ENSMUSP00000138407
Gene: ENSMUSG00000034755
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Protocadherin
|
1 |
168 |
8.9e-68 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191653
|
| SMART Domains |
Protein: ENSMUSP00000141600
Gene: ENSMUSG00000034755
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Protocadherin
|
1 |
168 |
2.1e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192677
|
| SMART Domains |
Protein: ENSMUSP00000141522
Gene: ENSMUSG00000034755
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
CA
|
52 |
137 |
4e-3 |
SMART |
|
CA
|
161 |
247 |
1.1e-19 |
SMART |
|
CA
|
271 |
353 |
1e-27 |
SMART |
|
CA
|
383 |
464 |
5.7e-15 |
SMART |
|
CA
|
488 |
568 |
1.2e-28 |
SMART |
|
CA
|
592 |
671 |
3.4e-27 |
SMART |
|
CA
|
698 |
780 |
2.9e-6 |
SMART |
|
low complexity region
|
978 |
996 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195088
|
| SMART Domains |
Protein: ENSMUSP00000142050
Gene: ENSMUSG00000034755
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
CA
|
52 |
137 |
8.24e-1 |
SMART |
|
CA
|
161 |
247 |
2.22e-17 |
SMART |
|
CA
|
271 |
353 |
2.04e-25 |
SMART |
|
CA
|
383 |
464 |
1.18e-12 |
SMART |
|
CA
|
488 |
568 |
2.38e-26 |
SMART |
|
CA
|
592 |
671 |
7.09e-25 |
SMART |
|
CA
|
698 |
780 |
5.92e-4 |
SMART |
|
transmembrane domain
|
813 |
835 |
N/A |
INTRINSIC |
|
low complexity region
|
978 |
996 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the protocadherin family, and cadherin superfamily, of transmembrane proteins containing cadherin domains. The encoded protein may mediate cell-cell adhesion in neuronal tissues in the presence of calcium. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
G |
8: 44,078,418 (GRCm39) |
I602T |
probably benign |
Het |
| Adam39 |
A |
G |
8: 41,279,783 (GRCm39) |
R725G |
possibly damaging |
Het |
| Arid2 |
A |
G |
15: 96,186,970 (GRCm39) |
E74G |
probably damaging |
Het |
| Carf |
T |
A |
1: 60,164,001 (GRCm39) |
|
probably benign |
Het |
| Cit |
A |
T |
5: 115,984,524 (GRCm39) |
Q32L |
probably damaging |
Het |
| Dennd4b |
A |
G |
3: 90,178,514 (GRCm39) |
T526A |
possibly damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,327,202 (GRCm39) |
E717G |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,290,029 (GRCm39) |
I968N |
probably damaging |
Het |
| Fcrl1 |
A |
T |
3: 87,296,942 (GRCm39) |
Y297F |
probably damaging |
Het |
| Gas2l3 |
A |
G |
10: 89,249,489 (GRCm39) |
L543P |
probably benign |
Het |
| Hid1 |
A |
T |
11: 115,249,895 (GRCm39) |
D84E |
probably benign |
Het |
| Ifit1bl2 |
C |
T |
19: 34,597,319 (GRCm39) |
S99N |
probably benign |
Het |
| Kpna3 |
A |
G |
14: 61,629,302 (GRCm39) |
|
probably benign |
Het |
| Myadm |
C |
A |
7: 3,345,739 (GRCm39) |
P167Q |
possibly damaging |
Het |
| Ociad1 |
C |
T |
5: 73,461,886 (GRCm39) |
|
probably benign |
Het |
| Or2t43 |
A |
C |
11: 58,457,593 (GRCm39) |
Y193D |
probably damaging |
Het |
| Pcdhb11 |
A |
G |
18: 37,555,026 (GRCm39) |
T119A |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,592,617 (GRCm39) |
R926G |
probably damaging |
Het |
| Ppwd1 |
A |
G |
13: 104,353,651 (GRCm39) |
F369S |
probably damaging |
Het |
| Rreb1 |
T |
A |
13: 38,100,472 (GRCm39) |
M201K |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,802,235 (GRCm39) |
I795N |
probably damaging |
Het |
| Slc3a1 |
T |
C |
17: 85,368,261 (GRCm39) |
W510R |
probably damaging |
Het |
| Slc44a5 |
T |
C |
3: 153,968,576 (GRCm39) |
L589P |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,572,717 (GRCm39) |
D176G |
probably null |
Het |
| Tom1 |
T |
A |
8: 75,778,802 (GRCm39) |
S24T |
probably benign |
Het |
| Vmn2r66 |
T |
A |
7: 84,656,299 (GRCm39) |
Q239L |
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 44,993,040 (GRCm39) |
T149A |
probably benign |
Het |
| Zc3h3 |
A |
G |
15: 75,651,162 (GRCm39) |
I686T |
probably damaging |
Het |
|
| Other mutations in Pcdh11x |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01109:Pcdh11x
|
APN |
X |
119,310,611 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01413:Pcdh11x
|
APN |
X |
119,309,282 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02458:Pcdh11x
|
APN |
X |
119,310,315 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03256:Pcdh11x
|
APN |
X |
119,310,607 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03365:Pcdh11x
|
APN |
X |
119,425,935 (GRCm39) |
missense |
probably benign |
|
|
R4795:Pcdh11x
|
UTSW |
X |
119,309,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pcdh11x
|
UTSW |
X |
119,311,427 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Posted On |
2015-08-05 |
Incidental Mutation