Incidental Mutation 'IGL00861:Nherf4'
ID |
12973 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nherf4
|
Ensembl Gene |
ENSMUSG00000032105 |
Gene Name |
NHERF family PDZ scaffold protein 4 |
Synonyms |
NaPi-Cap2, sodium-phosphate cotransporter IIa C-terminal-associated protein 2, Pdzk2, Pdzd3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00861
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
44158609-44162761 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44160933 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 211
(L211P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034618
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034618]
[ENSMUST00000034621]
[ENSMUST00000092426]
[ENSMUST00000168499]
[ENSMUST00000169651]
[ENSMUST00000213891]
[ENSMUST00000217221]
[ENSMUST00000215711]
[ENSMUST00000217510]
[ENSMUST00000215554]
[ENSMUST00000216632]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034618
AA Change: L211P
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000034618 Gene: ENSMUSG00000032105 AA Change: L211P
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
PDZ
|
58 |
130 |
2.04e-15 |
SMART |
PDZ
|
165 |
235 |
2.93e-7 |
SMART |
PDZ
|
271 |
346 |
2.47e-14 |
SMART |
PDZ
|
403 |
475 |
1.4e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000034621
|
SMART Domains |
Protein: ENSMUSP00000034621 Gene: ENSMUSG00000032109
Domain | Start | End | E-Value | Type |
Pfam:NACHT
|
160 |
325 |
1.1e-22 |
PFAM |
low complexity region
|
543 |
556 |
N/A |
INTRINSIC |
LRR
|
695 |
722 |
1.66e2 |
SMART |
LRR
|
749 |
776 |
3.59e1 |
SMART |
LRR
|
778 |
805 |
6.23e-2 |
SMART |
LRR
|
806 |
833 |
1.13e0 |
SMART |
LRR
|
834 |
861 |
1.99e1 |
SMART |
LRR
|
862 |
885 |
8.11e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000092426
|
SMART Domains |
Protein: ENSMUSP00000090082 Gene: ENSMUSG00000070306
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
coiled coil region
|
26 |
148 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168499
|
SMART Domains |
Protein: ENSMUSP00000127531 Gene: ENSMUSG00000032109
Domain | Start | End | E-Value | Type |
Pfam:NACHT
|
160 |
325 |
1.3e-23 |
PFAM |
low complexity region
|
543 |
556 |
N/A |
INTRINSIC |
LRR
|
695 |
722 |
1.66e2 |
SMART |
LRR
|
749 |
776 |
3.59e1 |
SMART |
LRR
|
778 |
805 |
6.23e-2 |
SMART |
LRR
|
806 |
833 |
1.13e0 |
SMART |
LRR
|
834 |
861 |
1.99e1 |
SMART |
LRR
|
862 |
885 |
8.11e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169651
|
SMART Domains |
Protein: ENSMUSP00000126555 Gene: ENSMUSG00000032109
Domain | Start | End | E-Value | Type |
Pfam:NACHT
|
160 |
325 |
1.3e-23 |
PFAM |
low complexity region
|
543 |
556 |
N/A |
INTRINSIC |
LRR
|
695 |
722 |
1.66e2 |
SMART |
LRR
|
749 |
776 |
3.59e1 |
SMART |
LRR
|
778 |
805 |
6.23e-2 |
SMART |
LRR
|
806 |
833 |
1.13e0 |
SMART |
LRR
|
834 |
861 |
1.99e1 |
SMART |
LRR
|
862 |
885 |
8.11e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213186
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213891
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217221
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215711
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217510
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215554
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216632
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216047
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation (Scott et al., 2002 [PubMed 11950846]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adm2 |
G |
A |
15: 89,207,488 (GRCm39) |
|
probably benign |
Het |
Ambra1 |
T |
A |
2: 91,601,271 (GRCm39) |
D189E |
possibly damaging |
Het |
Atg16l1 |
G |
A |
1: 87,702,560 (GRCm39) |
G274S |
probably damaging |
Het |
Cdh20 |
C |
A |
1: 109,988,718 (GRCm39) |
|
probably benign |
Het |
Chat |
T |
C |
14: 32,170,980 (GRCm39) |
Y173C |
probably damaging |
Het |
Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
Ctnnd1 |
T |
C |
2: 84,434,096 (GRCm39) |
D874G |
probably damaging |
Het |
Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
Depdc5 |
T |
C |
5: 33,125,158 (GRCm39) |
|
probably null |
Het |
Eef1b2 |
G |
A |
1: 63,217,665 (GRCm39) |
G91R |
probably damaging |
Het |
Fut10 |
G |
T |
8: 31,725,733 (GRCm39) |
V163F |
probably damaging |
Het |
Glmn |
A |
T |
5: 107,718,005 (GRCm39) |
M304K |
possibly damaging |
Het |
Klra6 |
A |
G |
6: 130,000,663 (GRCm39) |
V47A |
possibly damaging |
Het |
Lgi2 |
T |
C |
5: 52,695,463 (GRCm39) |
K491E |
probably benign |
Het |
Lrrc72 |
T |
A |
12: 36,271,507 (GRCm39) |
Q138L |
probably benign |
Het |
Nxph2 |
T |
A |
2: 23,289,974 (GRCm39) |
F109I |
probably damaging |
Het |
Oosp3 |
A |
G |
19: 11,689,004 (GRCm39) |
D84G |
probably benign |
Het |
Poc1b |
C |
T |
10: 98,965,514 (GRCm39) |
R106C |
probably benign |
Het |
Ptk2 |
A |
G |
15: 73,134,396 (GRCm39) |
S568P |
probably damaging |
Het |
Slc4a5 |
A |
G |
6: 83,276,453 (GRCm39) |
I1093V |
probably benign |
Het |
Snx2 |
G |
A |
18: 53,343,869 (GRCm39) |
|
probably null |
Het |
Washc5 |
G |
T |
15: 59,209,125 (GRCm39) |
T1033K |
probably damaging |
Het |
|
Other mutations in Nherf4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01639:Nherf4
|
APN |
9 |
44,159,976 (GRCm39) |
missense |
probably benign |
0.41 |
IGL02210:Nherf4
|
APN |
9 |
44,159,614 (GRCm39) |
missense |
probably benign |
|
IGL02502:Nherf4
|
APN |
9 |
44,160,948 (GRCm39) |
missense |
probably benign |
|
IGL03082:Nherf4
|
APN |
9 |
44,162,083 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0543:Nherf4
|
UTSW |
9 |
44,160,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R1180:Nherf4
|
UTSW |
9 |
44,160,543 (GRCm39) |
missense |
probably benign |
0.38 |
R1919:Nherf4
|
UTSW |
9 |
44,161,600 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4019:Nherf4
|
UTSW |
9 |
44,162,117 (GRCm39) |
splice site |
probably null |
|
R4020:Nherf4
|
UTSW |
9 |
44,162,117 (GRCm39) |
splice site |
probably null |
|
R4296:Nherf4
|
UTSW |
9 |
44,160,158 (GRCm39) |
missense |
probably benign |
0.01 |
R4430:Nherf4
|
UTSW |
9 |
44,161,041 (GRCm39) |
missense |
probably benign |
|
R4433:Nherf4
|
UTSW |
9 |
44,159,285 (GRCm39) |
makesense |
probably null |
|
R4567:Nherf4
|
UTSW |
9 |
44,160,323 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4942:Nherf4
|
UTSW |
9 |
44,159,915 (GRCm39) |
nonsense |
probably null |
|
R5436:Nherf4
|
UTSW |
9 |
44,159,652 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6320:Nherf4
|
UTSW |
9 |
44,159,980 (GRCm39) |
missense |
probably benign |
0.00 |
R6688:Nherf4
|
UTSW |
9 |
44,159,527 (GRCm39) |
critical splice donor site |
probably null |
|
R7625:Nherf4
|
UTSW |
9 |
44,161,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R8142:Nherf4
|
UTSW |
9 |
44,162,078 (GRCm39) |
critical splice donor site |
probably null |
|
R8531:Nherf4
|
UTSW |
9 |
44,159,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R8917:Nherf4
|
UTSW |
9 |
44,160,141 (GRCm39) |
unclassified |
probably benign |
|
R9147:Nherf4
|
UTSW |
9 |
44,160,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R9148:Nherf4
|
UTSW |
9 |
44,160,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |