Incidental Mutation 'R8142:Nherf4'
ID |
632588 |
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 |
067570-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8142 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
44158609-44162761 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 44162078 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034618
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034618]
[ENSMUST00000034621]
[ENSMUST00000092426]
[ENSMUST00000168499]
[ENSMUST00000169651]
[ENSMUST00000213891]
[ENSMUST00000215554]
[ENSMUST00000215711]
[ENSMUST00000216632]
[ENSMUST00000217510]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
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: ENSMUST00000217510
|
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 91.7%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp6v1e2 |
A |
T |
17: 87,252,083 (GRCm39) |
I105N |
possibly damaging |
Het |
Azi2 |
A |
G |
9: 117,878,475 (GRCm39) |
D105G |
probably damaging |
Het |
Bmpr2 |
T |
C |
1: 59,909,465 (GRCm39) |
S980P |
probably damaging |
Het |
Ccno |
T |
G |
13: 113,125,489 (GRCm39) |
L151R |
probably damaging |
Het |
Cdh2 |
A |
C |
18: 16,734,791 (GRCm39) |
I801S |
probably benign |
Het |
Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
Dab1 |
T |
A |
4: 104,535,921 (GRCm39) |
V110D |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,660,189 (GRCm39) |
T828A |
probably benign |
Het |
Dnah5 |
G |
T |
15: 28,384,519 (GRCm39) |
V3088L |
probably benign |
Het |
Dtd2 |
T |
A |
12: 52,046,593 (GRCm39) |
D82V |
probably damaging |
Het |
Dusp5 |
T |
C |
19: 53,525,912 (GRCm39) |
F185L |
probably damaging |
Het |
Epha10 |
A |
G |
4: 124,779,639 (GRCm39) |
T162A |
probably damaging |
Het |
Fat4 |
A |
T |
3: 38,945,352 (GRCm39) |
D1415V |
probably damaging |
Het |
Fitm1 |
T |
C |
14: 55,813,247 (GRCm39) |
Y37H |
possibly damaging |
Het |
Flg2 |
G |
T |
3: 93,122,782 (GRCm39) |
E1651* |
probably null |
Het |
Ifit3 |
G |
T |
19: 34,564,901 (GRCm39) |
C149F |
probably damaging |
Het |
Lepr |
C |
A |
4: 101,622,616 (GRCm39) |
H465Q |
possibly damaging |
Het |
Ltn1 |
A |
C |
16: 87,178,529 (GRCm39) |
S1567A |
probably benign |
Het |
Marchf1 |
T |
C |
8: 66,908,778 (GRCm39) |
V166A |
probably benign |
Het |
Marveld2 |
T |
C |
13: 100,737,448 (GRCm39) |
H424R |
possibly damaging |
Het |
Mypop |
A |
G |
7: 18,735,051 (GRCm39) |
T383A |
unknown |
Het |
Ngef |
G |
C |
1: 87,468,463 (GRCm39) |
R99G |
probably benign |
Het |
Npepps |
G |
T |
11: 97,109,398 (GRCm39) |
A726D |
probably damaging |
Het |
Or6c63-ps1 |
T |
A |
10: 128,900,519 (GRCm39) |
D9V |
probably benign |
Het |
Pcdhgb4 |
A |
G |
18: 37,854,166 (GRCm39) |
D187G |
probably damaging |
Het |
Per2 |
T |
C |
1: 91,349,269 (GRCm39) |
E1034G |
possibly damaging |
Het |
Pira1 |
A |
G |
7: 3,739,842 (GRCm39) |
S418P |
possibly damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,378,327 (GRCm39) |
R1027H |
probably benign |
Het |
Pon2 |
A |
T |
6: 5,266,239 (GRCm39) |
V260D |
probably benign |
Het |
Rnase13 |
A |
G |
14: 52,159,893 (GRCm39) |
I82T |
probably damaging |
Het |
Sbno1 |
A |
G |
5: 124,546,608 (GRCm39) |
S194P |
probably benign |
Het |
Serpinb6c |
T |
A |
13: 34,064,096 (GRCm39) |
I320L |
probably benign |
Het |
Sh3rf3 |
C |
T |
10: 58,885,205 (GRCm39) |
R363* |
probably null |
Het |
Slc11a1 |
T |
C |
1: 74,424,418 (GRCm39) |
F500L |
probably benign |
Het |
Slc1a4 |
A |
G |
11: 20,257,890 (GRCm39) |
|
probably null |
Het |
Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
Sorcs2 |
T |
C |
5: 36,219,958 (GRCm39) |
N362S |
possibly damaging |
Het |
Stau2 |
A |
G |
1: 16,530,575 (GRCm39) |
S115P |
unknown |
Het |
Stk38l |
A |
G |
6: 146,660,070 (GRCm39) |
N34S |
probably benign |
Het |
Tmem201 |
T |
C |
4: 149,803,114 (GRCm39) |
T585A |
probably benign |
Het |
Ttc6 |
A |
T |
12: 57,744,258 (GRCm39) |
I1297F |
possibly damaging |
Het |
Uncx |
A |
G |
5: 139,532,655 (GRCm39) |
D240G |
possibly damaging |
Het |
Vmn2r88 |
A |
G |
14: 51,651,564 (GRCm39) |
I293V |
|
Het |
Vps11 |
T |
C |
9: 44,265,852 (GRCm39) |
T476A |
probably benign |
Het |
Vrtn |
T |
C |
12: 84,697,395 (GRCm39) |
L715P |
probably damaging |
Het |
Wdr72 |
T |
G |
9: 74,046,949 (GRCm39) |
V65G |
probably damaging |
Het |
Zbtb21 |
T |
C |
16: 97,752,675 (GRCm39) |
E536G |
probably damaging |
Het |
Zbtb34 |
G |
T |
2: 33,302,493 (GRCm39) |
S16* |
probably null |
Het |
Zfhx2 |
G |
A |
14: 55,310,895 (GRCm39) |
L600F |
possibly 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 |
|
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 |
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'- AACTCTGCGTGGGCTGG -3'
(R):5'- TAAGTAGTCTGAGGGCTGGAG -3'
|
Posted On |
2020-06-30 |