Incidental Mutation 'R8917:Nherf4'
| ID |
695750 |
| 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 |
068704-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8917 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
44158609-44162761 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 44160141 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]
[ENSMUST00000215554]
[ENSMUST00000215711]
[ENSMUST00000216632]
[ENSMUST00000217221]
[ENSMUST00000217510]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034618
|
| SMART Domains |
Protein: ENSMUSP00000034618
Gene: ENSMUSG00000032105
| 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 |
probably benign
Transcript: ENSMUST00000213891
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215554
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215711
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216632
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217221
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217510
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (57/57) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610528J11Rik |
A |
G |
4: 118,386,490 (GRCm39) |
M1V |
probably null |
Het |
| Acss3 |
T |
C |
10: 106,773,124 (GRCm39) |
S621G |
probably benign |
Het |
| Adam1a |
C |
T |
5: 121,657,145 (GRCm39) |
R716Q |
probably benign |
Het |
| Ankrd26 |
G |
T |
6: 118,535,902 (GRCm39) |
N177K |
probably damaging |
Het |
| Ankrd31 |
G |
A |
13: 96,969,212 (GRCm39) |
V950I |
probably damaging |
Het |
| Ano4 |
A |
G |
10: 88,788,160 (GRCm39) |
Y922H |
probably damaging |
Het |
| Axin2 |
A |
T |
11: 108,822,341 (GRCm39) |
N298Y |
probably damaging |
Het |
| Celsr2 |
A |
T |
3: 108,303,882 (GRCm39) |
M2392K |
probably benign |
Het |
| Coasy |
A |
G |
11: 100,974,202 (GRCm39) |
S123G |
probably benign |
Het |
| Cracdl |
A |
G |
1: 37,676,993 (GRCm39) |
V63A |
probably damaging |
Het |
| Ctla2a |
A |
T |
13: 61,083,854 (GRCm39) |
M26K |
probably benign |
Het |
| Cts8 |
A |
T |
13: 61,396,882 (GRCm39) |
|
probably benign |
Het |
| Cyp4a30b |
C |
A |
4: 115,311,662 (GRCm39) |
S110* |
probably null |
Het |
| Eif2ak4 |
A |
G |
2: 118,287,617 (GRCm39) |
Y1195C |
probably damaging |
Het |
| Erh |
G |
T |
12: 80,684,282 (GRCm39) |
A65E |
probably benign |
Het |
| Exoc6 |
A |
G |
19: 37,578,360 (GRCm39) |
D401G |
probably benign |
Het |
| Fmo1 |
A |
G |
1: 162,663,773 (GRCm39) |
V252A |
probably benign |
Het |
| Furin |
T |
C |
7: 80,048,437 (GRCm39) |
K28E |
probably benign |
Het |
| Gmip |
T |
A |
8: 70,270,428 (GRCm39) |
F713I |
probably damaging |
Het |
| Hyal6 |
T |
C |
6: 24,734,103 (GRCm39) |
L12P |
possibly damaging |
Het |
| Ido1 |
T |
C |
8: 25,081,523 (GRCm39) |
N144D |
probably benign |
Het |
| Igsf10 |
T |
A |
3: 59,226,888 (GRCm39) |
T2262S |
possibly damaging |
Het |
| Insrr |
T |
C |
3: 87,718,276 (GRCm39) |
F923S |
probably benign |
Het |
| Kank1 |
G |
T |
19: 25,386,928 (GRCm39) |
M200I |
probably damaging |
Het |
| Kctd15 |
A |
G |
7: 34,341,508 (GRCm39) |
Y140H |
probably damaging |
Het |
| Kif3c |
T |
A |
12: 3,416,690 (GRCm39) |
I237N |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,905,455 (GRCm39) |
S152G |
possibly damaging |
Het |
| Lce1k |
C |
A |
3: 92,714,097 (GRCm39) |
C29F |
unknown |
Het |
| Map1a |
A |
G |
2: 121,131,791 (GRCm39) |
E869G |
possibly damaging |
Het |
| Mcmbp |
T |
C |
7: 128,300,281 (GRCm39) |
E576G |
probably benign |
Het |
| Mrps22 |
A |
G |
9: 98,476,163 (GRCm39) |
V231A |
probably benign |
Het |
| Myo1a |
C |
T |
10: 127,551,534 (GRCm39) |
L697F |
possibly damaging |
Het |
| Ncapd3 |
T |
C |
9: 26,999,297 (GRCm39) |
V1291A |
probably benign |
Het |
| Or9m1 |
A |
T |
2: 87,733,307 (GRCm39) |
S238T |
possibly damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,468,431 (GRCm39) |
T451A |
possibly damaging |
Het |
| Pi4ka |
C |
A |
16: 17,130,310 (GRCm39) |
W1032L |
|
Het |
| Pkhd1l1 |
T |
A |
15: 44,396,403 (GRCm39) |
I1975N |
probably benign |
Het |
| Pnpla6 |
T |
C |
8: 3,567,637 (GRCm39) |
M115T |
possibly damaging |
Het |
| Poldip2 |
G |
A |
11: 78,412,667 (GRCm39) |
R347Q |
probably damaging |
Het |
| Pramel18 |
G |
A |
4: 101,768,935 (GRCm39) |
V429M |
probably benign |
Het |
| Rapgef6 |
C |
T |
11: 54,582,392 (GRCm39) |
Q1440* |
probably null |
Het |
| Rtn3 |
A |
T |
19: 7,434,105 (GRCm39) |
I629K |
possibly damaging |
Het |
| Selenov |
A |
G |
7: 27,987,728 (GRCm39) |
F278L |
probably damaging |
Het |
| Skor2 |
G |
A |
18: 76,948,504 (GRCm39) |
G742D |
probably damaging |
Het |
| Spata31d1c |
C |
T |
13: 65,183,429 (GRCm39) |
P324S |
probably benign |
Het |
| Tbc1d14 |
A |
T |
5: 36,676,682 (GRCm39) |
I403N |
probably damaging |
Het |
| Tekt3 |
A |
T |
11: 62,978,052 (GRCm39) |
Q374L |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,645,332 (GRCm39) |
|
probably null |
Het |
| Thnsl2 |
T |
C |
6: 71,116,927 (GRCm39) |
D75G |
probably benign |
Het |
| Tnr |
A |
T |
1: 159,701,692 (GRCm39) |
K598* |
probably null |
Het |
| Tshr |
T |
A |
12: 91,468,829 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,185,735 (GRCm39) |
S1483P |
|
Het |
| Usp42 |
T |
C |
5: 143,701,695 (GRCm39) |
E776G |
|
Het |
| Vmn2r118 |
T |
C |
17: 55,917,216 (GRCm39) |
E432G |
possibly damaging |
Het |
| Vmn2r-ps158 |
T |
C |
7: 42,697,433 (GRCm39) |
I830T |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,464,159 (GRCm39) |
E1464G |
probably damaging |
Het |
| Zfp518a |
A |
C |
19: 40,901,870 (GRCm39) |
K600Q |
possibly damaging |
Het |
| Zxdc |
A |
G |
6: 90,359,305 (GRCm39) |
T646A |
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 |
|
|
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 |
|
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'- CCCGGGTACAAGAAGCATTG -3'
(R):5'- ATCCAGGACTACCAGCTGAC -3'
Sequencing Primer
(F):5'- GAAGGCTCAACTGTGTCTTCAAC -3'
(R):5'- GGACTACCAGCTGACAAGGC -3'
|
| Posted On |
2022-01-31 |
Incidental Mutation