Incidental Mutation 'R8847:Nphp4'
ID |
674745 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nphp4
|
Ensembl Gene |
ENSMUSG00000039577 |
Gene Name |
nephronophthisis 4 (juvenile) homolog (human) |
Synonyms |
nmf192, 4930564O18Rik |
MMRRC Submission |
068735-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.142)
|
Stock # |
R8847 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
152561163-152647640 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 152590863 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 287
(R287C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049920
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056567]
[ENSMUST00000081393]
|
AlphaFold |
P59240 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056567
AA Change: R287C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049920 Gene: ENSMUSG00000039577 AA Change: R287C
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 damaging
Transcript: ENSMUST00000081393
AA Change: R287C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080128 Gene: ENSMUSG00000039577 AA Change: R287C
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
100% (64/64) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
G |
C |
8: 41,206,746 (GRCm39) |
R4T |
probably benign |
Het |
Alk |
T |
A |
17: 72,256,820 (GRCm39) |
I680F |
probably benign |
Het |
Best3 |
A |
G |
10: 116,824,572 (GRCm39) |
T13A |
possibly damaging |
Het |
Ccdc7b |
A |
G |
8: 129,872,082 (GRCm39) |
D59G |
|
Het |
Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
Cic |
G |
A |
7: 24,970,631 (GRCm39) |
V121M |
probably damaging |
Het |
Clasp1 |
C |
G |
1: 118,506,705 (GRCm39) |
P1280R |
probably damaging |
Het |
Col6a5 |
A |
T |
9: 105,741,472 (GRCm39) |
N2482K |
possibly damaging |
Het |
Crebbp |
A |
G |
16: 3,902,891 (GRCm39) |
M2116T |
probably benign |
Het |
Ddn |
T |
C |
15: 98,704,794 (GRCm39) |
E166G |
possibly damaging |
Het |
Dennd6a |
C |
T |
14: 26,327,086 (GRCm39) |
T249I |
probably benign |
Het |
Diaph1 |
A |
T |
18: 37,987,590 (GRCm39) |
D1055E |
possibly damaging |
Het |
Dnajc13 |
C |
A |
9: 104,057,360 (GRCm39) |
G1547* |
probably null |
Het |
Dvl1 |
C |
T |
4: 155,942,611 (GRCm39) |
R626C |
possibly damaging |
Het |
Fer1l6 |
A |
C |
15: 58,414,012 (GRCm39) |
K13Q |
possibly damaging |
Het |
Fry |
G |
A |
5: 150,309,472 (GRCm39) |
E639K |
|
Het |
Gm6408 |
G |
T |
5: 146,420,602 (GRCm39) |
V161L |
probably benign |
Het |
Gpatch8 |
A |
T |
11: 102,372,010 (GRCm39) |
N509K |
unknown |
Het |
Hycc2 |
G |
T |
1: 58,595,713 (GRCm39) |
P55Q |
probably damaging |
Het |
Ints13 |
T |
C |
6: 146,457,631 (GRCm39) |
T416A |
probably benign |
Het |
Iqcf6 |
A |
T |
9: 106,504,650 (GRCm39) |
M105L |
probably damaging |
Het |
Magi3 |
C |
A |
3: 103,922,334 (GRCm39) |
R1461L |
probably benign |
Het |
Map3k8 |
A |
T |
18: 4,333,889 (GRCm39) |
L401Q |
|
Het |
Miga2 |
G |
T |
2: 30,273,990 (GRCm39) |
R542L |
probably damaging |
Het |
Mphosph9 |
A |
T |
5: 124,454,209 (GRCm39) |
V96E |
possibly damaging |
Het |
Nek5 |
T |
C |
8: 22,613,595 (GRCm39) |
S28G |
probably benign |
Het |
Niban1 |
A |
G |
1: 151,575,929 (GRCm39) |
E351G |
probably damaging |
Het |
Notch4 |
A |
G |
17: 34,803,962 (GRCm39) |
|
probably benign |
Het |
Npc1 |
A |
G |
18: 12,323,987 (GRCm39) |
L1275P |
probably damaging |
Het |
Or10ak11 |
T |
C |
4: 118,686,821 (GRCm39) |
D271G |
probably damaging |
Het |
Or13a20 |
G |
C |
7: 140,232,326 (GRCm39) |
A145P |
possibly damaging |
Het |
Or1j13 |
G |
A |
2: 36,369,483 (GRCm39) |
R220* |
probably null |
Het |
Or1p1c |
C |
T |
11: 74,160,443 (GRCm39) |
T76I |
probably damaging |
Het |
Parn |
A |
T |
16: 13,446,270 (GRCm39) |
L343* |
probably null |
Het |
Pax5 |
T |
A |
4: 44,691,865 (GRCm39) |
D127V |
probably benign |
Het |
Peak1 |
C |
A |
9: 56,114,427 (GRCm39) |
D1505Y |
probably damaging |
Het |
Perm1 |
C |
T |
4: 156,302,068 (GRCm39) |
T204I |
probably benign |
Het |
Pid1 |
A |
T |
1: 84,093,694 (GRCm39) |
S65T |
unknown |
Het |
Pkn2 |
A |
G |
3: 142,526,401 (GRCm39) |
V392A |
probably benign |
Het |
Plekhh2 |
A |
G |
17: 84,878,479 (GRCm39) |
D578G |
probably benign |
Het |
Ppp4r4 |
T |
A |
12: 103,562,747 (GRCm39) |
L572Q |
probably damaging |
Het |
Pum3 |
G |
A |
19: 27,398,713 (GRCm39) |
T279M |
probably damaging |
Het |
Rasa2 |
A |
G |
9: 96,458,402 (GRCm39) |
V266A |
possibly damaging |
Het |
Sirpb1c |
C |
T |
3: 15,886,584 (GRCm39) |
W264* |
probably null |
Het |
Slc35g3 |
A |
T |
11: 69,651,399 (GRCm39) |
Y195* |
probably null |
Het |
Slk |
T |
A |
19: 47,607,632 (GRCm39) |
H289Q |
|
Het |
Spef2 |
T |
C |
15: 9,668,913 (GRCm39) |
S758G |
probably benign |
Het |
Spon2 |
C |
T |
5: 33,371,841 (GRCm39) |
A322T |
probably benign |
Het |
Spred2 |
T |
C |
11: 19,951,064 (GRCm39) |
L87P |
probably benign |
Het |
Stk10 |
A |
G |
11: 32,539,427 (GRCm39) |
D269G |
|
Het |
Tex48 |
T |
A |
4: 63,530,772 (GRCm39) |
|
probably benign |
Het |
Themis2 |
T |
A |
4: 132,513,509 (GRCm39) |
H239L |
probably damaging |
Het |
Tle4 |
T |
A |
19: 14,493,737 (GRCm39) |
R199* |
probably null |
Het |
Tlr11 |
C |
T |
14: 50,600,182 (GRCm39) |
H723Y |
possibly damaging |
Het |
Trdj2 |
T |
A |
14: 54,374,237 (GRCm39) |
S1T |
|
Het |
Vdac1 |
T |
G |
11: 52,267,230 (GRCm39) |
S44A |
|
Het |
Vill |
C |
T |
9: 118,897,514 (GRCm39) |
T647I |
probably damaging |
Het |
Vmn1r61 |
A |
G |
7: 5,613,817 (GRCm39) |
C166R |
probably damaging |
Het |
Vmn2r114 |
T |
A |
17: 23,528,986 (GRCm39) |
N372I |
probably damaging |
Het |
Vmn2r120 |
T |
A |
17: 57,816,217 (GRCm39) |
M713L |
probably benign |
Het |
Vmn2r61 |
T |
C |
7: 41,950,010 (GRCm39) |
V810A |
probably damaging |
Het |
Vmn2r65 |
A |
T |
7: 84,590,212 (GRCm39) |
L568Q |
probably damaging |
Het |
Wdr7 |
T |
C |
18: 63,872,293 (GRCm39) |
V409A |
probably damaging |
Het |
Ylpm1 |
C |
A |
12: 85,061,672 (GRCm39) |
N524K |
unknown |
Het |
Zfp958 |
A |
C |
8: 4,678,434 (GRCm39) |
H153P |
probably 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 |
|
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 |
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'- TGTGTTCATTCACACTCGGTG -3'
(R):5'- TGACGGAAAAGCACAGCTCG -3'
Sequencing Primer
(F):5'- ACACTCGGTGTCCCTCCG -3'
(R):5'- AGCCTTTTATCACCCCGGG -3'
|
Posted On |
2021-07-15 |