Incidental Mutation 'R5117:Nphp4'
| ID |
392669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nphp4
|
| Ensembl Gene |
ENSMUSG00000039577 |
| Gene Name |
nephronophthisis 4 (juvenile) homolog (human) |
| Synonyms |
nmf192, 4930564O18Rik |
| MMRRC Submission |
042705-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R5117 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
152561163-152647640 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 152608689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056567]
[ENSMUST00000081393]
|
| AlphaFold |
P59240 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000056567
|
| SMART Domains |
Protein: ENSMUSP00000049920
Gene: ENSMUSG00000039577
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
317 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
530 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
909 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000081393
|
| SMART Domains |
Protein: ENSMUSP00000080128
Gene: ENSMUSG00000039577
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
317 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
530 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
909 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142027
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
| Validation Efficiency |
100% (67/67) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mutant mice have a mottled retina with photoreceptor degeneration and male infertility associated with oligozoospermia and asthenozoospermia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
G |
A |
9: 124,055,715 (GRCm39) |
T403I |
probably benign |
Het |
| 4921509C19Rik |
T |
C |
2: 151,314,460 (GRCm39) |
E406G |
probably benign |
Het |
| Abca8b |
T |
C |
11: 109,857,629 (GRCm39) |
E641G |
probably damaging |
Het |
| Agrn |
T |
C |
4: 156,270,010 (GRCm39) |
N49S |
probably benign |
Het |
| Cacna1b |
A |
G |
2: 24,622,340 (GRCm39) |
S215P |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,323,329 (GRCm39) |
I1292F |
probably damaging |
Het |
| Card14 |
T |
A |
11: 119,229,076 (GRCm39) |
I662N |
probably damaging |
Het |
| Cep135 |
A |
G |
5: 76,779,276 (GRCm39) |
K762R |
probably benign |
Het |
| Ces1b |
A |
G |
8: 93,799,837 (GRCm39) |
|
probably null |
Het |
| Erich6 |
T |
G |
3: 58,530,626 (GRCm39) |
I448L |
probably benign |
Het |
| Fads3 |
T |
G |
19: 10,019,322 (GRCm39) |
|
probably null |
Het |
| Fam234a |
A |
G |
17: 26,432,512 (GRCm39) |
F546L |
probably benign |
Het |
| Fbxl9 |
T |
A |
8: 106,039,492 (GRCm39) |
R595* |
probably null |
Het |
| Gm10717 |
T |
C |
9: 3,025,625 (GRCm39) |
L70S |
probably benign |
Het |
| Gm11787 |
G |
T |
4: 3,509,524 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5519 |
A |
G |
19: 33,802,471 (GRCm39) |
*171W |
probably null |
Het |
| Grid2 |
T |
C |
6: 63,233,917 (GRCm39) |
I26T |
probably benign |
Het |
| Hmcn2 |
T |
G |
2: 31,348,061 (GRCm39) |
C4902W |
possibly damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,661,698 (GRCm39) |
N106S |
possibly damaging |
Het |
| Il18 |
A |
T |
9: 50,492,809 (GRCm39) |
N125I |
possibly damaging |
Het |
| Ints9 |
G |
T |
14: 65,230,540 (GRCm39) |
E156* |
probably null |
Het |
| Kalrn |
T |
C |
16: 33,853,971 (GRCm39) |
|
probably null |
Het |
| Klkb1 |
A |
T |
8: 45,742,149 (GRCm39) |
D43E |
possibly damaging |
Het |
| Lipo3 |
A |
T |
19: 33,536,952 (GRCm39) |
M256K |
probably benign |
Het |
| Mapk6 |
C |
A |
9: 75,305,017 (GRCm39) |
M133I |
possibly damaging |
Het |
| Med21 |
T |
A |
6: 146,548,781 (GRCm39) |
|
probably benign |
Het |
| Myrf |
T |
A |
19: 10,189,857 (GRCm39) |
E984V |
probably damaging |
Het |
| Naga |
A |
C |
15: 82,221,657 (GRCm39) |
M28R |
probably damaging |
Het |
| Nr1h4 |
T |
C |
10: 89,314,284 (GRCm39) |
N295D |
probably damaging |
Het |
| Or10j27 |
T |
C |
1: 172,958,484 (GRCm39) |
Q100R |
possibly damaging |
Het |
| Or13n4 |
A |
T |
7: 106,422,869 (GRCm39) |
I288N |
probably damaging |
Het |
| Or55b3 |
T |
C |
7: 102,126,709 (GRCm39) |
M123V |
probably damaging |
Het |
| Parp9 |
C |
A |
16: 35,792,202 (GRCm39) |
|
probably null |
Het |
| Pax4 |
T |
C |
6: 28,446,278 (GRCm39) |
I72V |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,879,090 (GRCm39) |
I542V |
probably benign |
Het |
| Pcdhgb7 |
C |
T |
18: 37,885,939 (GRCm39) |
R370W |
probably damaging |
Het |
| Pik3r1 |
G |
A |
13: 101,828,744 (GRCm39) |
T18I |
probably benign |
Het |
| Ppara |
A |
G |
15: 85,661,962 (GRCm39) |
I68V |
probably benign |
Het |
| Ptch2 |
T |
A |
4: 116,963,146 (GRCm39) |
I211N |
probably damaging |
Het |
| Senp6 |
G |
A |
9: 80,038,028 (GRCm39) |
V715M |
probably damaging |
Het |
| Serf2 |
C |
T |
2: 121,281,184 (GRCm39) |
P41L |
possibly damaging |
Het |
| Serpina12 |
T |
C |
12: 104,004,009 (GRCm39) |
I208V |
possibly damaging |
Het |
| Serpinf2 |
T |
C |
11: 75,323,326 (GRCm39) |
D460G |
probably benign |
Het |
| Sh3d21 |
T |
C |
4: 126,045,665 (GRCm39) |
E338G |
probably damaging |
Het |
| Slc7a11 |
T |
C |
3: 50,333,599 (GRCm39) |
D384G |
probably damaging |
Het |
| Snx15 |
A |
G |
19: 6,174,181 (GRCm39) |
|
probably null |
Het |
| Supt16 |
A |
G |
14: 52,420,549 (GRCm39) |
F84L |
probably damaging |
Het |
| Tamalin |
A |
G |
15: 101,128,418 (GRCm39) |
D152G |
probably damaging |
Het |
| Thoc2l |
A |
G |
5: 104,668,121 (GRCm39) |
Y881C |
probably damaging |
Het |
| Tm9sf2 |
C |
A |
14: 122,380,913 (GRCm39) |
Q169K |
probably benign |
Het |
| Trim56 |
A |
T |
5: 137,142,832 (GRCm39) |
V228E |
probably benign |
Het |
| Triqk |
T |
A |
4: 12,980,390 (GRCm39) |
|
probably null |
Het |
| Ttc21a |
T |
A |
9: 119,795,631 (GRCm39) |
I1155N |
possibly damaging |
Het |
| Ube3b |
T |
G |
5: 114,557,692 (GRCm39) |
Y1059D |
probably damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,363,961 (GRCm39) |
T652A |
probably benign |
Het |
| Wdr4 |
A |
G |
17: 31,718,798 (GRCm39) |
V304A |
probably benign |
Het |
| Wwp2 |
T |
C |
8: 108,280,694 (GRCm39) |
S646P |
possibly damaging |
Het |
| Zfand5 |
T |
A |
19: 21,257,009 (GRCm39) |
S130T |
probably benign |
Het |
| Zfp599 |
A |
T |
9: 22,161,396 (GRCm39) |
Y256* |
probably null |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfyve16 |
T |
A |
13: 92,642,197 (GRCm39) |
I1209L |
possibly damaging |
Het |
|
| Other mutations in Nphp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00922:Nphp4
|
APN |
4 |
152,621,766 (GRCm39) |
splice site |
probably benign |
|
|
IGL00963:Nphp4
|
APN |
4 |
152,622,318 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01571:Nphp4
|
APN |
4 |
152,640,839 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01707:Nphp4
|
APN |
4 |
152,623,440 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01837:Nphp4
|
APN |
4 |
152,573,338 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02341:Nphp4
|
APN |
4 |
152,639,926 (GRCm39) |
splice site |
probably benign |
|
|
IGL02558:Nphp4
|
APN |
4 |
152,639,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02563:Nphp4
|
APN |
4 |
152,640,677 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02712:Nphp4
|
APN |
4 |
152,640,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03023:Nphp4
|
APN |
4 |
152,608,692 (GRCm39) |
splice site |
probably null |
|
|
R0280:Nphp4
|
UTSW |
4 |
152,636,393 (GRCm39) |
splice site |
probably benign |
|
|
R0317:Nphp4
|
UTSW |
4 |
152,636,388 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0410:Nphp4
|
UTSW |
4 |
152,641,503 (GRCm39) |
missense |
probably benign |
|
|
R0433:Nphp4
|
UTSW |
4 |
152,602,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0706:Nphp4
|
UTSW |
4 |
152,640,074 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0785:Nphp4
|
UTSW |
4 |
152,646,566 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0890:Nphp4
|
UTSW |
4 |
152,582,677 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0930:Nphp4
|
UTSW |
4 |
152,622,512 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1202:Nphp4
|
UTSW |
4 |
152,573,186 (GRCm39) |
splice site |
probably null |
|
|
R1203:Nphp4
|
UTSW |
4 |
152,573,289 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1366:Nphp4
|
UTSW |
4 |
152,587,383 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1452:Nphp4
|
UTSW |
4 |
152,631,475 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1598:Nphp4
|
UTSW |
4 |
152,646,547 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1699:Nphp4
|
UTSW |
4 |
152,581,121 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2007:Nphp4
|
UTSW |
4 |
152,639,111 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2082:Nphp4
|
UTSW |
4 |
152,643,821 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2264:Nphp4
|
UTSW |
4 |
152,587,465 (GRCm39) |
splice site |
probably benign |
|
|
R2280:Nphp4
|
UTSW |
4 |
152,641,500 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2281:Nphp4
|
UTSW |
4 |
152,641,500 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2926:Nphp4
|
UTSW |
4 |
152,602,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3764:Nphp4
|
UTSW |
4 |
152,622,474 (GRCm39) |
splice site |
probably benign |
|
|
R4084:Nphp4
|
UTSW |
4 |
152,573,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4091:Nphp4
|
UTSW |
4 |
152,631,475 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4240:Nphp4
|
UTSW |
4 |
152,640,141 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4701:Nphp4
|
UTSW |
4 |
152,581,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4778:Nphp4
|
UTSW |
4 |
152,640,748 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4783:Nphp4
|
UTSW |
4 |
152,639,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4784:Nphp4
|
UTSW |
4 |
152,639,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4974:Nphp4
|
UTSW |
4 |
152,622,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5053:Nphp4
|
UTSW |
4 |
152,628,919 (GRCm39) |
splice site |
probably null |
|
|
R5128:Nphp4
|
UTSW |
4 |
152,587,448 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5665:Nphp4
|
UTSW |
4 |
152,590,942 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5890:Nphp4
|
UTSW |
4 |
152,631,536 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6171:Nphp4
|
UTSW |
4 |
152,628,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6601:Nphp4
|
UTSW |
4 |
152,587,464 (GRCm39) |
splice site |
probably null |
|
|
R6772:Nphp4
|
UTSW |
4 |
152,628,863 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6806:Nphp4
|
UTSW |
4 |
152,622,558 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7006:Nphp4
|
UTSW |
4 |
152,573,259 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7124:Nphp4
|
UTSW |
4 |
152,640,141 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7381:Nphp4
|
UTSW |
4 |
152,583,460 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7411:Nphp4
|
UTSW |
4 |
152,639,174 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7638:Nphp4
|
UTSW |
4 |
152,638,991 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7814:Nphp4
|
UTSW |
4 |
152,628,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7814:Nphp4
|
UTSW |
4 |
152,608,729 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7841:Nphp4
|
UTSW |
4 |
152,581,140 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8346:Nphp4
|
UTSW |
4 |
152,645,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8479:Nphp4
|
UTSW |
4 |
152,608,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8847:Nphp4
|
UTSW |
4 |
152,590,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8995:Nphp4
|
UTSW |
4 |
152,623,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8997:Nphp4
|
UTSW |
4 |
152,623,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9075:Nphp4
|
UTSW |
4 |
152,591,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9089:Nphp4
|
UTSW |
4 |
152,645,673 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9191:Nphp4
|
UTSW |
4 |
152,640,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9274:Nphp4
|
UTSW |
4 |
152,640,056 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9311:Nphp4
|
UTSW |
4 |
152,608,714 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9383:Nphp4
|
UTSW |
4 |
152,628,918 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9628:Nphp4
|
UTSW |
4 |
152,568,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9711:Nphp4
|
UTSW |
4 |
152,623,434 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9712:Nphp4
|
UTSW |
4 |
152,631,521 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9752:Nphp4
|
UTSW |
4 |
152,621,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9790:Nphp4
|
UTSW |
4 |
152,646,605 (GRCm39) |
missense |
probably null |
0.64 |
|
R9791:Nphp4
|
UTSW |
4 |
152,646,605 (GRCm39) |
missense |
probably null |
0.64 |
|
T0970:Nphp4
|
UTSW |
4 |
152,640,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0058:Nphp4
|
UTSW |
4 |
152,644,164 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1177:Nphp4
|
UTSW |
4 |
152,602,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCTGGGATTTTAATGACACAAC -3'
(R):5'- GAGAAACTTCGGCACTTACCC -3'
Sequencing Primer
(F):5'- TGCTGTCTGGTTGAAACG -3'
(R):5'- ACTTACCCTGCAGAGCTAGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation