Incidental Mutation 'IGL02502:Nherf4'
| ID |
296102 |
| 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 # |
IGL02502
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
44158609-44162761 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44160948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 206
(A206V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034618
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034618]
[ENSMUST00000034621]
[ENSMUST00000092426]
[ENSMUST00000168499]
[ENSMUST00000169651]
[ENSMUST00000213891]
[ENSMUST00000215554]
[ENSMUST00000216632]
[ENSMUST00000215711]
[ENSMUST00000217510]
[ENSMUST00000217221]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034618
AA Change: A206V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034618
Gene: ENSMUSG00000032105
AA Change: A206V
| 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 |
noncoding transcript
Transcript: ENSMUST00000216047
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215554
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216632
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215711
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217510
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217221
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
A |
G |
2: 127,917,804 (GRCm39) |
N216S |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,303,163 (GRCm39) |
D96G |
probably damaging |
Het |
| Akna |
A |
G |
4: 63,286,440 (GRCm39) |
V1353A |
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,730,877 (GRCm39) |
D914G |
probably damaging |
Het |
| Ap1s3 |
A |
G |
1: 79,601,439 (GRCm39) |
V84A |
possibly damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,325,623 (GRCm39) |
E282G |
probably damaging |
Het |
| C2cd2 |
G |
T |
16: 97,677,590 (GRCm39) |
S378Y |
possibly damaging |
Het |
| Cd101 |
C |
A |
3: 100,919,141 (GRCm39) |
A654S |
probably damaging |
Het |
| Cep295 |
A |
C |
9: 15,262,209 (GRCm39) |
|
probably benign |
Het |
| Csn1s1 |
A |
G |
5: 87,828,784 (GRCm39) |
I283V |
probably benign |
Het |
| Cst3 |
A |
G |
2: 148,717,065 (GRCm39) |
|
probably benign |
Het |
| Cyp2b9 |
T |
C |
7: 25,887,239 (GRCm39) |
|
probably null |
Het |
| Dffb |
A |
G |
4: 154,050,073 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,898,351 (GRCm39) |
Y3711C |
probably damaging |
Het |
| Eif4g2 |
T |
C |
7: 110,680,748 (GRCm39) |
S3G |
probably damaging |
Het |
| Erbb3 |
C |
T |
10: 128,406,153 (GRCm39) |
R1088H |
probably benign |
Het |
| Evpl |
T |
C |
11: 116,113,544 (GRCm39) |
D1382G |
probably damaging |
Het |
| Fam168a |
A |
G |
7: 100,473,417 (GRCm39) |
D102G |
probably damaging |
Het |
| Fbxo7 |
A |
G |
10: 85,869,161 (GRCm39) |
Y284C |
probably damaging |
Het |
| G6pd2 |
T |
C |
5: 61,966,971 (GRCm39) |
Y249H |
probably damaging |
Het |
| Gm1123 |
A |
T |
9: 98,891,443 (GRCm39) |
Y335* |
probably null |
Het |
| Gm5624 |
C |
T |
14: 44,797,296 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
A |
T |
12: 51,844,635 (GRCm39) |
M536K |
possibly damaging |
Het |
| Ikbkg |
T |
A |
X: 73,487,433 (GRCm39) |
V334E |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,650,257 (GRCm39) |
L769P |
probably damaging |
Het |
| Jmjd1c |
A |
T |
10: 67,061,640 (GRCm39) |
K1331I |
probably benign |
Het |
| Krt32 |
T |
C |
11: 99,978,749 (GRCm39) |
K102E |
probably damaging |
Het |
| Lrrc34 |
A |
T |
3: 30,699,394 (GRCm39) |
N20K |
probably benign |
Het |
| Lrrc47 |
A |
G |
4: 154,100,471 (GRCm39) |
E349G |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,670,579 (GRCm39) |
I415V |
possibly damaging |
Het |
| Myh10 |
A |
G |
11: 68,705,198 (GRCm39) |
|
probably null |
Het |
| Nbeal2 |
A |
G |
9: 110,462,836 (GRCm39) |
S1376P |
probably damaging |
Het |
| Nfx1 |
T |
C |
4: 40,976,345 (GRCm39) |
|
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,377,252 (GRCm39) |
C246* |
probably null |
Het |
| Nr3c2 |
A |
G |
8: 77,969,143 (GRCm39) |
Y976C |
probably damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,696 (GRCm39) |
V82A |
probably damaging |
Het |
| Or52n4b |
T |
A |
7: 108,143,846 (GRCm39) |
M36K |
probably damaging |
Het |
| Or5b122 |
A |
G |
19: 13,563,112 (GRCm39) |
Y105C |
probably damaging |
Het |
| P2rx7 |
C |
T |
5: 122,819,050 (GRCm39) |
R491C |
possibly damaging |
Het |
| Phex |
T |
A |
X: 155,966,823 (GRCm39) |
Y625F |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,462,389 (GRCm39) |
D2055G |
probably damaging |
Het |
| Pmm2 |
T |
C |
16: 8,463,227 (GRCm39) |
|
probably benign |
Het |
| Prdm15 |
T |
C |
16: 97,640,539 (GRCm39) |
D16G |
probably damaging |
Het |
| Prune2 |
T |
A |
19: 17,101,245 (GRCm39) |
C2250S |
probably benign |
Het |
| Rasgef1a |
T |
A |
6: 118,057,443 (GRCm39) |
F48Y |
probably benign |
Het |
| Rhoq |
T |
C |
17: 87,271,077 (GRCm39) |
V15A |
probably damaging |
Het |
| Rnf216 |
G |
A |
5: 143,054,622 (GRCm39) |
A585V |
probably damaging |
Het |
| Septin9 |
T |
A |
11: 117,181,488 (GRCm39) |
I96N |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,070,101 (GRCm39) |
D1492E |
possibly damaging |
Het |
| Slc22a26 |
A |
T |
19: 7,768,125 (GRCm39) |
|
probably null |
Het |
| Tek |
T |
G |
4: 94,741,818 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,741,051 (GRCm39) |
E782G |
probably damaging |
Het |
| Trmt5 |
A |
G |
12: 73,328,001 (GRCm39) |
C401R |
probably benign |
Het |
| Tspear |
T |
G |
10: 77,688,792 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
G |
A |
15: 38,030,933 (GRCm39) |
T414I |
probably benign |
Het |
| Vcl |
A |
T |
14: 21,069,453 (GRCm39) |
T710S |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,816,392 (GRCm39) |
D396E |
probably damaging |
Het |
| Wtip |
A |
G |
7: 33,818,094 (GRCm39) |
|
probably null |
Het |
| Zap70 |
A |
G |
1: 36,817,887 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Nherf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00861:Nherf4
|
APN |
9 |
44,160,933 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01639:Nherf4
|
APN |
9 |
44,159,976 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02210:Nherf4
|
APN |
9 |
44,159,614 (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 |
2015-04-16 |
Incidental Mutation