Incidental Mutation 'R4567:Nherf4'
| ID |
343355 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
041791-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4567 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
44158609-44162761 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 44160323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 294
(V294L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034618
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034618]
[ENSMUST00000034621]
[ENSMUST00000092426]
[ENSMUST00000168499]
[ENSMUST00000169651]
[ENSMUST00000213891]
[ENSMUST00000215711]
[ENSMUST00000216632]
[ENSMUST00000217221]
[ENSMUST00000217510]
[ENSMUST00000215554]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034618
AA Change: V294L
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034618
Gene: ENSMUSG00000032105
AA Change: V294L
| 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: ENSMUST00000215711
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216632
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217221
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217510
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215554
|
| Meta Mutation Damage Score |
0.1692 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
95% (38/40) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16a |
T |
A |
17: 35,315,499 (GRCm39) |
L182Q |
probably damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Alg12 |
T |
C |
15: 88,690,556 (GRCm39) |
|
probably benign |
Het |
| Asmt |
A |
G |
X: 169,110,261 (GRCm39) |
|
probably null |
Het |
| Atp10b |
T |
C |
11: 43,088,384 (GRCm39) |
I330T |
probably benign |
Het |
| Ceacam23 |
T |
C |
7: 17,642,891 (GRCm39) |
S434P |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,498,942 (GRCm39) |
M998V |
probably benign |
Het |
| Erbb3 |
A |
G |
10: 128,414,944 (GRCm39) |
S401P |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,023,716 (GRCm39) |
T56S |
probably benign |
Het |
| Gm1527 |
A |
T |
3: 28,968,556 (GRCm39) |
N203Y |
probably damaging |
Het |
| Hsf2bp |
C |
T |
17: 32,165,708 (GRCm39) |
V296M |
probably benign |
Het |
| Htr1d |
T |
A |
4: 136,170,836 (GRCm39) |
V355E |
probably benign |
Het |
| Ints11 |
T |
C |
4: 155,970,132 (GRCm39) |
V203A |
probably damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,364,721 (GRCm39) |
V856A |
probably damaging |
Het |
| Or2ag1b |
G |
A |
7: 106,288,420 (GRCm39) |
Q173* |
probably null |
Het |
| Or2y6 |
T |
C |
11: 52,104,291 (GRCm39) |
H175R |
probably damaging |
Het |
| Or5t18 |
A |
G |
2: 86,637,146 (GRCm39) |
S66P |
probably damaging |
Het |
| Phf11 |
A |
T |
14: 59,488,627 (GRCm39) |
Y57N |
probably damaging |
Het |
| Ppfia2 |
G |
A |
10: 106,701,267 (GRCm39) |
|
probably null |
Het |
| Prss23 |
T |
A |
7: 89,160,074 (GRCm39) |
|
probably benign |
Het |
| Rasl2-9 |
AGG |
A |
7: 5,128,374 (GRCm39) |
|
probably null |
Het |
| Rcn2 |
A |
T |
9: 55,960,266 (GRCm39) |
I178F |
probably benign |
Het |
| Rtn1 |
C |
T |
12: 72,259,261 (GRCm39) |
|
probably benign |
Het |
| Sik2 |
A |
G |
9: 50,909,876 (GRCm39) |
V59A |
probably damaging |
Het |
| Slc25a42 |
A |
T |
8: 70,641,504 (GRCm39) |
M159K |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,619,737 (GRCm39) |
L21P |
probably damaging |
Het |
| Smap2 |
A |
C |
4: 120,842,508 (GRCm39) |
W41G |
probably damaging |
Het |
| Sox6 |
T |
C |
7: 115,261,557 (GRCm39) |
I220V |
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,722,198 (GRCm39) |
D994G |
probably benign |
Het |
| Syt17 |
A |
G |
7: 118,033,495 (GRCm39) |
V171A |
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,956,249 (GRCm39) |
F1332S |
probably damaging |
Het |
| Trim3 |
C |
T |
7: 105,262,623 (GRCm39) |
V512I |
possibly damaging |
Het |
| Uhmk1 |
G |
A |
1: 170,032,686 (GRCm39) |
Q282* |
probably null |
Het |
| Ushbp1 |
G |
A |
8: 71,838,361 (GRCm39) |
R648W |
probably damaging |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAACCTGTGGCACCTGAGC -3'
(R):5'- GATAGGCTGGCCATACACATTC -3'
Sequencing Primer
(F):5'- GTCACATACCATGCTGAAGAAG -3'
(R):5'- GGCTGGCCATACACATTCAATTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation