Incidental Mutation 'R4019:Nherf4'
| ID |
312686 |
| 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 |
040953-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4019 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44158609-44162761 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4993 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 44162117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034618]
[ENSMUST00000034621]
[ENSMUST00000092426]
[ENSMUST00000168499]
[ENSMUST00000169651]
[ENSMUST00000213891]
[ENSMUST00000215711]
[ENSMUST00000217510]
[ENSMUST00000215554]
[ENSMUST00000216632]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034618
AA Change: N27K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034618
Gene: ENSMUSG00000032105
AA Change: N27K
| 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 null
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 null
Transcript: ENSMUST00000213891
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000215711
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000217510
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000215554
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000216632
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216047
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215389
|
| Meta Mutation Damage Score |
0.5368 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
T |
C |
9: 106,313,978 (GRCm39) |
T61A |
possibly damaging |
Het |
| Ap4e1 |
C |
T |
2: 126,903,846 (GRCm39) |
S916F |
probably benign |
Het |
| Brpf1 |
G |
A |
6: 113,287,243 (GRCm39) |
R157Q |
probably damaging |
Het |
| Canx |
A |
T |
11: 50,190,072 (GRCm39) |
S429T |
probably damaging |
Het |
| Casz1 |
C |
T |
4: 149,017,335 (GRCm39) |
P208L |
probably benign |
Het |
| Ctnnd1 |
C |
T |
2: 84,450,302 (GRCm39) |
R306H |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,664,401 (GRCm39) |
V909A |
probably damaging |
Het |
| Epg5 |
C |
A |
18: 78,073,665 (GRCm39) |
Q2511K |
probably damaging |
Het |
| Ghitm |
G |
A |
14: 36,852,651 (GRCm39) |
A143V |
probably damaging |
Het |
| Gramd2b |
T |
C |
18: 56,612,026 (GRCm39) |
|
probably null |
Het |
| Ifitm3 |
T |
C |
7: 140,589,772 (GRCm39) |
T94A |
possibly damaging |
Het |
| Ift81 |
G |
A |
5: 122,731,192 (GRCm39) |
T321M |
probably benign |
Het |
| Ikbkb |
C |
T |
8: 23,161,728 (GRCm39) |
V387I |
probably benign |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lpar5 |
A |
G |
6: 125,058,638 (GRCm39) |
N120D |
probably damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,506,119 (GRCm39) |
S1950P |
probably benign |
Het |
| Lrrtm2 |
T |
C |
18: 35,345,923 (GRCm39) |
I460V |
possibly damaging |
Het |
| Naip5 |
T |
C |
13: 100,359,883 (GRCm39) |
E451G |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,902 (GRCm39) |
I445V |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,532,520 (GRCm39) |
R1743G |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,371,154 (GRCm39) |
T311A |
probably benign |
Het |
| Oplah |
A |
G |
15: 76,181,476 (GRCm39) |
Y1155H |
probably damaging |
Het |
| Or4c15 |
A |
G |
2: 88,760,080 (GRCm39) |
I193T |
probably benign |
Het |
| Or52k2 |
T |
C |
7: 102,253,849 (GRCm39) |
F96S |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,018 (GRCm39) |
T395I |
probably damaging |
Het |
| Pdgfb |
A |
C |
15: 79,885,923 (GRCm39) |
V108G |
probably damaging |
Het |
| Prpf40b |
T |
C |
15: 99,214,357 (GRCm39) |
S846P |
probably benign |
Het |
| Ptprc |
T |
A |
1: 138,006,254 (GRCm39) |
H752L |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,356,295 (GRCm39) |
|
probably benign |
Het |
| Sco1 |
T |
G |
11: 66,954,846 (GRCm39) |
S284A |
probably benign |
Het |
| Slc25a10 |
T |
A |
11: 120,388,265 (GRCm39) |
M227K |
probably damaging |
Het |
| Sox8 |
A |
G |
17: 25,789,271 (GRCm39) |
Y76H |
probably damaging |
Het |
| Spdya |
A |
C |
17: 71,863,309 (GRCm39) |
K19N |
possibly damaging |
Het |
| Syngap1 |
C |
T |
17: 27,171,315 (GRCm39) |
|
probably benign |
Het |
| Sytl3 |
T |
C |
17: 7,003,892 (GRCm39) |
S326P |
probably damaging |
Het |
| Tbl3 |
A |
G |
17: 24,923,695 (GRCm39) |
V239A |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,937,901 (GRCm39) |
I1592V |
probably benign |
Het |
| Vmn2r109 |
T |
A |
17: 20,774,074 (GRCm39) |
D427V |
probably benign |
Het |
| Vmn2r115 |
A |
G |
17: 23,579,017 (GRCm39) |
K830R |
probably damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,474,580 (GRCm39) |
L816* |
probably null |
Het |
| Zfp335 |
C |
T |
2: 164,743,380 (GRCm39) |
R536H |
probably damaging |
Het |
| Zfp777 |
T |
A |
6: 48,019,046 (GRCm39) |
Q296L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGAATGAACTCTGCGTGG -3'
(R):5'- TTAACTCTGTAAGTAGTCTGAGGGC -3'
Sequencing Primer
(F):5'- CTAAAGCAAAGGGATGTCTTCC -3'
(R):5'- TAAGTAGTCTGAGGGCTGGAG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation