Incidental Mutation 'R9089:Nphp4'
ID |
690806 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nphp4
|
Ensembl Gene |
ENSMUSG00000039577 |
Gene Name |
nephronophthisis 4 (juvenile) homolog (human) |
Synonyms |
nmf192, 4930564O18Rik |
MMRRC Submission |
068907-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.142)
|
Stock # |
R9089 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
152561163-152647640 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 152645673 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1227
(V1227A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049920
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056567]
[ENSMUST00000081393]
|
AlphaFold |
P59240 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056567
AA Change: V1227A
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000049920 Gene: ENSMUSG00000039577 AA Change: V1227A
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 |
possibly damaging
Transcript: ENSMUST00000081393
AA Change: V1227A
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000080128 Gene: ENSMUSG00000039577 AA Change: V1227A
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700122O11Rik |
T |
A |
17: 48,347,951 (GRCm39) |
R118* |
probably null |
Het |
Acadsb |
T |
C |
7: 131,027,504 (GRCm39) |
V68A |
probably damaging |
Het |
Adgb |
T |
C |
10: 10,318,432 (GRCm39) |
R137G |
probably benign |
Het |
Adgrl3 |
C |
A |
5: 81,808,291 (GRCm39) |
N622K |
possibly damaging |
Het |
Ager |
C |
A |
17: 34,819,579 (GRCm39) |
P366T |
probably benign |
Het |
Barx2 |
C |
A |
9: 31,765,443 (GRCm39) |
W184L |
probably damaging |
Het |
Bckdha |
A |
C |
7: 25,341,144 (GRCm39) |
N72K |
probably benign |
Het |
Blm |
A |
T |
7: 80,162,867 (GRCm39) |
D161E |
probably damaging |
Het |
Ccdc121rt2 |
A |
T |
5: 112,598,757 (GRCm39) |
R435W |
probably damaging |
Het |
Cd96 |
G |
T |
16: 45,870,068 (GRCm39) |
T467N |
probably benign |
Het |
Cdk13 |
A |
T |
13: 17,978,444 (GRCm39) |
S265T |
unknown |
Het |
Col6a5 |
A |
C |
9: 105,766,142 (GRCm39) |
I1926S |
probably damaging |
Het |
Csgalnact2 |
A |
T |
6: 118,097,983 (GRCm39) |
V361D |
probably damaging |
Het |
Cstf1 |
T |
A |
2: 172,217,807 (GRCm39) |
M140K |
|
Het |
Ddx41 |
A |
T |
13: 55,683,424 (GRCm39) |
S128T |
probably benign |
Het |
Deaf1 |
A |
T |
7: 140,877,465 (GRCm39) |
V554D |
probably damaging |
Het |
Dido1 |
C |
T |
2: 180,303,293 (GRCm39) |
S1537N |
probably benign |
Het |
Dmwd |
T |
C |
7: 18,811,980 (GRCm39) |
S145P |
probably damaging |
Het |
Eftud2 |
A |
G |
11: 102,759,971 (GRCm39) |
S125P |
probably benign |
Het |
Gga1 |
A |
G |
15: 78,773,952 (GRCm39) |
D325G |
probably damaging |
Het |
Gm43518 |
T |
C |
5: 124,072,329 (GRCm39) |
|
probably null |
Het |
Got1l1 |
A |
T |
8: 27,690,889 (GRCm39) |
V53E |
probably damaging |
Het |
Helz2 |
A |
T |
2: 180,881,433 (GRCm39) |
C350S |
probably damaging |
Het |
Ipo7 |
T |
A |
7: 109,643,666 (GRCm39) |
F398I |
possibly damaging |
Het |
Itga11 |
A |
G |
9: 62,678,662 (GRCm39) |
N943S |
probably damaging |
Het |
Itpa |
T |
A |
2: 130,509,857 (GRCm39) |
|
probably null |
Het |
Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
Kbtbd4 |
A |
T |
2: 90,737,909 (GRCm39) |
N220Y |
possibly damaging |
Het |
Kdm5b |
T |
A |
1: 134,535,506 (GRCm39) |
F594L |
probably damaging |
Het |
Klhdc4 |
C |
T |
8: 122,524,684 (GRCm39) |
V446I |
probably benign |
Het |
Klk1b1 |
A |
G |
7: 43,620,668 (GRCm39) |
I253V |
possibly damaging |
Het |
Kynu |
T |
A |
2: 43,489,620 (GRCm39) |
M135K |
probably damaging |
Het |
Lgi1 |
T |
C |
19: 38,294,095 (GRCm39) |
I289T |
possibly damaging |
Het |
Lhx2 |
A |
G |
2: 38,250,045 (GRCm39) |
N288S |
probably damaging |
Het |
Lrp6 |
G |
C |
6: 134,488,169 (GRCm39) |
A309G |
probably damaging |
Het |
Map2 |
T |
A |
1: 66,452,098 (GRCm39) |
N329K |
probably benign |
Het |
Med15 |
G |
A |
16: 17,473,421 (GRCm39) |
P476L |
unknown |
Het |
Muc16 |
A |
T |
9: 18,555,846 (GRCm39) |
N3482K |
unknown |
Het |
Nemf |
A |
C |
12: 69,400,628 (GRCm39) |
V149G |
probably damaging |
Het |
Notch3 |
T |
C |
17: 32,370,521 (GRCm39) |
S706G |
probably benign |
Het |
Or1e31 |
A |
G |
11: 73,690,052 (GRCm39) |
F177S |
probably damaging |
Het |
Or2a52 |
A |
T |
6: 43,144,917 (GRCm39) |
R308S |
probably benign |
Het |
Or6c70 |
A |
G |
10: 129,710,488 (GRCm39) |
L46P |
probably damaging |
Het |
Parp2 |
A |
G |
14: 51,052,327 (GRCm39) |
T102A |
probably damaging |
Het |
Pcdhgc3 |
T |
C |
18: 37,941,264 (GRCm39) |
V555A |
possibly damaging |
Het |
Plk5 |
C |
G |
10: 80,193,830 (GRCm39) |
R40G |
probably damaging |
Het |
Ralgapa1 |
A |
C |
12: 55,723,351 (GRCm39) |
L1725R |
probably damaging |
Het |
Reln |
G |
T |
5: 22,130,198 (GRCm39) |
D2704E |
probably benign |
Het |
Sart3 |
C |
A |
5: 113,891,756 (GRCm39) |
E405D |
possibly damaging |
Het |
Scin |
A |
T |
12: 40,131,703 (GRCm39) |
L277* |
probably null |
Het |
Sec62 |
T |
A |
3: 30,868,383 (GRCm39) |
V204E |
probably benign |
Het |
Serpina3a |
T |
C |
12: 104,085,956 (GRCm39) |
I137T |
possibly damaging |
Het |
Sh3rf1 |
T |
C |
8: 61,825,613 (GRCm39) |
M536T |
probably benign |
Het |
Slc45a4 |
T |
C |
15: 73,457,953 (GRCm39) |
H532R |
probably damaging |
Het |
Svs5 |
A |
G |
2: 164,079,341 (GRCm39) |
F189L |
probably benign |
Het |
Synm |
T |
C |
7: 67,408,766 (GRCm39) |
D204G |
probably damaging |
Het |
Tmtc1 |
A |
T |
6: 148,147,215 (GRCm39) |
H827Q |
possibly damaging |
Het |
Tnfrsf25 |
T |
A |
4: 152,201,929 (GRCm39) |
C135* |
probably null |
Het |
Unc13b |
T |
G |
4: 43,095,847 (GRCm39) |
I85S |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,487,374 (GRCm39) |
Y3047* |
probably null |
Het |
Vmn1r75 |
T |
C |
7: 11,614,453 (GRCm39) |
S62P |
probably damaging |
Het |
Vps50 |
T |
C |
6: 3,536,884 (GRCm39) |
V285A |
probably benign |
Het |
Vwa5b1 |
T |
A |
4: 138,296,742 (GRCm39) |
D1095V |
probably benign |
Het |
Zdhhc21 |
T |
A |
4: 82,725,292 (GRCm39) |
D208V |
probably damaging |
Het |
Zfp422 |
A |
C |
6: 116,604,086 (GRCm39) |
|
probably benign |
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 |
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 |
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'- TGCTCAAGAGAGTCCAGGCTAG -3'
(R):5'- TTGTGCAAACCTCCACCAGC -3'
Sequencing Primer
(F):5'- GCTCGCCCCAGTCCTATACATAG -3'
(R):5'- ACCTCCACCAGCTACTGTGG -3'
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Posted On |
2021-12-30 |