Incidental Mutation 'R4020:Nherf4'
| ID |
312739 |
| 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 |
040954-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4020 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 94.0%
|
| Validation Efficiency |
100% (54/54) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
G |
C |
8: 89,035,362 (GRCm39) |
V89L |
probably benign |
Het |
| Aebp2 |
T |
A |
6: 140,588,021 (GRCm39) |
S364T |
probably damaging |
Het |
| Akr1b10 |
C |
T |
6: 34,369,388 (GRCm39) |
T206I |
probably benign |
Het |
| Ap4e1 |
C |
T |
2: 126,903,846 (GRCm39) |
S916F |
probably benign |
Het |
| Apob |
C |
T |
12: 8,044,914 (GRCm39) |
Q845* |
probably null |
Het |
| Asb4 |
A |
G |
6: 5,390,803 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,066,724 (GRCm39) |
|
probably benign |
Het |
| C1ra |
A |
T |
6: 124,496,736 (GRCm39) |
T391S |
probably benign |
Het |
| Catsperg2 |
C |
A |
7: 29,416,429 (GRCm39) |
D328Y |
probably damaging |
Het |
| Ciapin1 |
G |
T |
8: 95,555,814 (GRCm39) |
L119M |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,077,765 (GRCm39) |
|
probably benign |
Het |
| Cyp2j6 |
A |
G |
4: 96,406,407 (GRCm39) |
S455P |
probably benign |
Het |
| Dctn4 |
G |
A |
18: 60,671,329 (GRCm39) |
|
probably benign |
Het |
| Defa25 |
C |
T |
8: 21,575,245 (GRCm39) |
R75C |
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,175,296 (GRCm39) |
L561P |
probably damaging |
Het |
| Dnajc7 |
A |
T |
11: 100,482,292 (GRCm39) |
F185L |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,844,267 (GRCm39) |
I1175V |
probably benign |
Het |
| Drosha |
T |
G |
15: 12,837,422 (GRCm39) |
L302R |
possibly damaging |
Het |
| Efcab5 |
C |
T |
11: 76,994,930 (GRCm39) |
V1214I |
probably benign |
Het |
| Erich3 |
G |
A |
3: 154,419,686 (GRCm39) |
R260H |
probably damaging |
Het |
| Fam168b |
T |
C |
1: 34,867,860 (GRCm39) |
T47A |
possibly damaging |
Het |
| Gorasp1 |
G |
A |
9: 119,757,936 (GRCm39) |
R290C |
probably benign |
Het |
| Gtf2a1 |
A |
G |
12: 91,539,351 (GRCm39) |
S94P |
possibly damaging |
Het |
| Ighv1-53 |
C |
T |
12: 115,122,442 (GRCm39) |
C5Y |
probably benign |
Het |
| Impdh1 |
T |
C |
6: 29,202,693 (GRCm39) |
I446V |
probably benign |
Het |
| Krtap5-1 |
T |
C |
7: 141,850,094 (GRCm39) |
|
probably null |
Het |
| Lipo3 |
T |
A |
19: 33,764,804 (GRCm39) |
I17L |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,506,119 (GRCm39) |
S1950P |
probably benign |
Het |
| Lss |
T |
C |
10: 76,383,278 (GRCm39) |
M526T |
probably damaging |
Het |
| Med12l |
A |
C |
3: 59,155,363 (GRCm39) |
Q1181P |
probably damaging |
Het |
| Mtrf1l |
T |
C |
10: 5,767,454 (GRCm39) |
T221A |
probably benign |
Het |
| Muc21 |
T |
C |
17: 35,930,953 (GRCm39) |
|
probably benign |
Het |
| Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
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 |
| Nfrkb |
T |
A |
9: 31,325,407 (GRCm39) |
L950Q |
possibly damaging |
Het |
| Oplah |
A |
G |
15: 76,181,476 (GRCm39) |
Y1155H |
probably damaging |
Het |
| Or5b105 |
T |
G |
19: 13,079,790 (GRCm39) |
K287Q |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,018 (GRCm39) |
T395I |
probably damaging |
Het |
| Pitrm1 |
A |
G |
13: 6,606,723 (GRCm39) |
H259R |
probably damaging |
Het |
| Pllp |
C |
A |
8: 95,406,072 (GRCm39) |
M70I |
possibly damaging |
Het |
| Pop1 |
A |
G |
15: 34,508,926 (GRCm39) |
T334A |
probably benign |
Het |
| Prep |
T |
C |
10: 44,968,894 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
C |
A |
6: 22,959,623 (GRCm39) |
|
probably benign |
Het |
| Sbsn |
A |
G |
7: 30,455,390 (GRCm39) |
S170G |
probably damaging |
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 |
| Trav7-6 |
A |
G |
14: 53,954,638 (GRCm39) |
K56R |
probably benign |
Het |
| Ubr4 |
T |
G |
4: 139,179,116 (GRCm39) |
C3322G |
probably damaging |
Het |
| Unc5a |
T |
C |
13: 55,151,182 (GRCm39) |
Y608H |
probably damaging |
Het |
| Zfand1 |
A |
C |
3: 10,405,816 (GRCm39) |
N262K |
probably benign |
Het |
| Zfp335 |
C |
T |
2: 164,743,380 (GRCm39) |
R536H |
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 |
|
|
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'- TAGCTGAATGAACTCTGCGTGG -3'
(R):5'- ACTCTGTAAGTAGTCTGAGGGC -3'
Sequencing Primer
(F):5'- CTAAAGCAAAGGGATGTCTTCC -3'
(R):5'- TAAGTAGTCTGAGGGCTGGAG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation