Incidental Mutation 'R0930:Nphp4'
| ID |
80725 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nphp4
|
| Ensembl Gene |
ENSMUSG00000039577 |
| Gene Name |
nephronophthisis 4 (juvenile) homolog (human) |
| Synonyms |
nmf192, 4930564O18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R0930 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
152561163-152647640 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 152622512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 599
(L599R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056567]
[ENSMUST00000081393]
|
| AlphaFold |
P59240 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056567
AA Change: L599R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000049920
Gene: ENSMUSG00000039577
AA Change: L599R
| 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 benign
Transcript: ENSMUST00000081393
AA Change: L599R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000080128
Gene: ENSMUSG00000039577
AA Change: L599R
| 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
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
G |
T |
17: 84,990,705 (GRCm39) |
V16L |
probably benign |
Het |
| Adamts18 |
A |
T |
8: 114,432,028 (GRCm39) |
|
probably null |
Het |
| Agpat4 |
A |
T |
17: 12,417,723 (GRCm39) |
E88V |
probably damaging |
Het |
| Ahcyl2 |
A |
C |
6: 29,870,627 (GRCm39) |
|
probably null |
Het |
| Ankrd2 |
T |
A |
19: 42,032,292 (GRCm39) |
|
probably null |
Het |
| Anxa6 |
A |
T |
11: 54,885,214 (GRCm39) |
|
probably null |
Het |
| Bpi |
A |
G |
2: 158,103,346 (GRCm39) |
I114V |
possibly damaging |
Het |
| Cacna1c |
A |
T |
6: 118,652,857 (GRCm39) |
I772N |
probably damaging |
Het |
| Cacna2d1 |
A |
G |
5: 16,570,860 (GRCm39) |
N1045D |
possibly damaging |
Het |
| Caprin2 |
T |
C |
6: 148,785,009 (GRCm39) |
|
probably null |
Het |
| Cars1 |
T |
A |
7: 143,124,307 (GRCm39) |
H373L |
probably damaging |
Het |
| Ccdc191 |
G |
T |
16: 43,751,618 (GRCm39) |
G316V |
probably damaging |
Het |
| Cd244a |
T |
A |
1: 171,404,801 (GRCm39) |
|
probably null |
Het |
| Ces1a |
C |
T |
8: 93,749,044 (GRCm39) |
D456N |
probably benign |
Het |
| Cul3 |
A |
T |
1: 80,267,835 (GRCm39) |
M102K |
probably damaging |
Het |
| Dact1 |
A |
G |
12: 71,365,234 (GRCm39) |
R672G |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,905,262 (GRCm39) |
F991L |
probably benign |
Het |
| Dlg5 |
G |
A |
14: 24,185,645 (GRCm39) |
P1920L |
probably damaging |
Het |
| Eme2 |
G |
A |
17: 25,111,892 (GRCm39) |
S263F |
probably damaging |
Het |
| Exosc4 |
A |
G |
15: 76,211,734 (GRCm39) |
I14M |
probably benign |
Het |
| Ezr |
G |
A |
17: 7,021,398 (GRCm39) |
R180* |
probably null |
Het |
| Fcgbpl1 |
A |
T |
7: 27,839,555 (GRCm39) |
Y456F |
probably damaging |
Het |
| Fyb1 |
A |
T |
15: 6,668,309 (GRCm39) |
I501F |
probably damaging |
Het |
| Hdac5 |
G |
T |
11: 102,095,472 (GRCm39) |
P383Q |
probably benign |
Het |
| Hmx3 |
A |
T |
7: 131,144,813 (GRCm39) |
H41L |
probably benign |
Het |
| Krt36 |
A |
G |
11: 99,994,225 (GRCm39) |
F284S |
probably damaging |
Het |
| L1td1 |
A |
G |
4: 98,625,862 (GRCm39) |
N686D |
probably damaging |
Het |
| Lsamp |
G |
A |
16: 41,709,327 (GRCm39) |
G86S |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,196,824 (GRCm39) |
E1819G |
possibly damaging |
Het |
| Myo7a |
A |
T |
7: 97,747,463 (GRCm39) |
I129N |
probably damaging |
Het |
| Nckap1 |
A |
T |
2: 80,384,593 (GRCm39) |
C114S |
probably benign |
Het |
| Nrcam |
A |
G |
12: 44,596,667 (GRCm39) |
I301V |
probably benign |
Het |
| Or6b2b |
A |
G |
1: 92,419,127 (GRCm39) |
S117P |
possibly damaging |
Het |
| Os9 |
C |
T |
10: 126,932,924 (GRCm39) |
R547Q |
probably damaging |
Het |
| Oxtr |
A |
T |
6: 112,466,598 (GRCm39) |
|
probably null |
Het |
| Pgm2 |
A |
T |
5: 64,269,490 (GRCm39) |
I526F |
possibly damaging |
Het |
| Plekho2 |
T |
C |
9: 65,464,105 (GRCm39) |
D248G |
possibly damaging |
Het |
| Rab43 |
A |
T |
6: 87,769,752 (GRCm39) |
Y151* |
probably null |
Het |
| Rbm19 |
A |
G |
5: 120,264,269 (GRCm39) |
E343G |
probably benign |
Het |
| Rel |
A |
T |
11: 23,692,439 (GRCm39) |
D531E |
probably benign |
Het |
| Rfx4 |
T |
A |
10: 84,704,291 (GRCm39) |
V262E |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,672,178 (GRCm39) |
L1431P |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,729,271 (GRCm39) |
I1102T |
probably benign |
Het |
| Sema3d |
A |
C |
5: 12,513,183 (GRCm39) |
D51A |
possibly damaging |
Het |
| Sh2d4a |
T |
A |
8: 68,787,775 (GRCm39) |
F294I |
probably damaging |
Het |
| Slc3a1 |
A |
G |
17: 85,367,171 (GRCm39) |
T453A |
probably benign |
Het |
| Sod1 |
A |
G |
16: 90,022,071 (GRCm39) |
D93G |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,906,040 (GRCm39) |
N1662S |
probably damaging |
Het |
| Stxbp4 |
A |
C |
11: 90,512,526 (GRCm39) |
M1R |
probably null |
Het |
| Tbc1d7 |
A |
T |
13: 43,318,812 (GRCm39) |
Y108* |
probably null |
Het |
| Ticam1 |
A |
T |
17: 56,577,226 (GRCm39) |
V623D |
unknown |
Het |
| Ticam1 |
A |
G |
17: 56,578,687 (GRCm39) |
L136P |
probably damaging |
Het |
| Tjap1 |
A |
C |
17: 46,569,455 (GRCm39) |
W512G |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,549,800 (GRCm39) |
Q686L |
possibly damaging |
Het |
| Wdr45b |
A |
T |
11: 121,221,040 (GRCm39) |
F213I |
probably damaging |
Het |
| Xdh |
A |
C |
17: 74,230,077 (GRCm39) |
W285G |
probably benign |
Het |
| Zfp646 |
C |
T |
7: 127,482,982 (GRCm39) |
Q1500* |
probably null |
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 |
|
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 |
|
|
R5117:Nphp4
|
UTSW |
4 |
152,608,689 (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'- TGTCGAGCATCTACAGGAACTTCCC -3'
(R):5'- TGAGAGTCAGACCTTCAGCGTGAG -3'
Sequencing Primer
(F):5'- ATCTACAGGAACTTCCCTTCAC -3'
(R):5'- ACCTTCAGCGTGAGGAAGC -3'
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| Posted On |
2013-11-07 |
Incidental Mutation