Incidental Mutation 'R2264:Nphp4'
ID |
243985 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nphp4
|
Ensembl Gene |
ENSMUSG00000039577 |
Gene Name |
nephronophthisis 4 (juvenile) homolog (human) |
Synonyms |
nmf192, 4930564O18Rik |
MMRRC Submission |
040264-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.142)
|
Stock # |
R2264 (G1)
|
Quality Score |
217 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
152561163-152647640 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 152587465 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 benign
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 benign
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: ENSMUST00000123635
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142027
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146223
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
Validation Efficiency |
94% (65/69) |
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 |
Aatk |
A |
G |
11: 119,901,100 (GRCm39) |
S1042P |
probably damaging |
Het |
Armc1 |
C |
T |
3: 19,189,033 (GRCm39) |
V211I |
probably damaging |
Het |
B4galnt3 |
T |
C |
6: 120,180,771 (GRCm39) |
*986W |
probably null |
Het |
BC024139 |
T |
A |
15: 76,010,117 (GRCm39) |
D105V |
probably damaging |
Het |
BC049715 |
C |
T |
6: 136,817,434 (GRCm39) |
Q225* |
probably null |
Het |
Cadps2 |
T |
C |
6: 23,323,339 (GRCm39) |
H1043R |
probably benign |
Het |
Ccdc42 |
T |
C |
11: 68,478,477 (GRCm39) |
V33A |
probably benign |
Het |
Cldn1 |
A |
G |
16: 26,177,949 (GRCm39) |
Y159H |
probably damaging |
Het |
Cog6 |
A |
T |
3: 52,900,332 (GRCm39) |
C476* |
probably null |
Het |
Col14a1 |
T |
G |
15: 55,330,086 (GRCm39) |
|
probably null |
Het |
Crisp1 |
C |
T |
17: 40,623,965 (GRCm39) |
M1I |
probably null |
Het |
Dip2b |
T |
A |
15: 100,101,097 (GRCm39) |
S1297T |
probably benign |
Het |
Dlgap4 |
A |
G |
2: 156,543,383 (GRCm39) |
E262G |
probably benign |
Het |
Dnai7 |
A |
G |
6: 145,154,155 (GRCm39) |
|
probably benign |
Het |
Dpp4 |
A |
C |
2: 62,208,583 (GRCm39) |
V187G |
possibly damaging |
Het |
F5 |
A |
G |
1: 164,021,971 (GRCm39) |
D1482G |
probably benign |
Het |
Fads6 |
T |
A |
11: 115,177,061 (GRCm39) |
T132S |
probably damaging |
Het |
Fat4 |
A |
G |
3: 38,944,571 (GRCm39) |
I1155V |
probably benign |
Het |
Fermt1 |
C |
T |
2: 132,757,110 (GRCm39) |
|
probably null |
Het |
Fstl1 |
C |
T |
16: 37,597,653 (GRCm39) |
|
probably benign |
Het |
Get3 |
G |
A |
8: 85,751,887 (GRCm39) |
|
probably benign |
Het |
Gm5089 |
T |
C |
14: 122,673,514 (GRCm39) |
Y69C |
unknown |
Het |
Gm9871 |
T |
C |
6: 101,773,201 (GRCm39) |
|
noncoding transcript |
Het |
Gpr89 |
A |
G |
3: 96,779,831 (GRCm39) |
S375P |
probably damaging |
Het |
Gtf2h4 |
A |
G |
17: 35,979,556 (GRCm39) |
|
probably benign |
Het |
Gtsf1 |
T |
A |
15: 103,328,391 (GRCm39) |
N148I |
possibly damaging |
Het |
Hexa |
T |
C |
9: 59,462,660 (GRCm39) |
S129P |
probably damaging |
Het |
Iigp1 |
A |
T |
18: 60,523,738 (GRCm39) |
E285D |
probably benign |
Het |
Il23r |
T |
A |
6: 67,403,651 (GRCm39) |
|
probably null |
Het |
Iqch |
T |
C |
9: 63,419,581 (GRCm39) |
K463R |
probably benign |
Het |
Kcnd1 |
A |
G |
X: 7,690,323 (GRCm39) |
|
probably null |
Het |
Kif26b |
A |
T |
1: 178,756,407 (GRCm39) |
|
probably null |
Het |
Loxl1 |
A |
G |
9: 58,204,961 (GRCm39) |
V418A |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,312,710 (GRCm39) |
D2526G |
possibly damaging |
Het |
Map4 |
G |
T |
9: 109,910,525 (GRCm39) |
G851C |
probably damaging |
Het |
Mtmr11 |
A |
T |
3: 96,076,413 (GRCm39) |
E456V |
possibly damaging |
Het |
Muc13 |
G |
A |
16: 33,628,409 (GRCm39) |
|
probably null |
Het |
Myo18a |
C |
A |
11: 77,710,798 (GRCm39) |
|
probably benign |
Het |
Nrg3 |
T |
C |
14: 38,103,659 (GRCm39) |
E445G |
probably damaging |
Het |
Ntrk1 |
A |
G |
3: 87,686,941 (GRCm39) |
|
probably null |
Het |
Or8b1 |
G |
T |
9: 38,399,351 (GRCm39) |
V9L |
possibly damaging |
Het |
Parp6 |
T |
C |
9: 59,531,288 (GRCm39) |
S57P |
probably damaging |
Het |
Pcdhb12 |
A |
G |
18: 37,569,858 (GRCm39) |
N335D |
probably damaging |
Het |
Pdzph1 |
T |
C |
17: 59,195,162 (GRCm39) |
|
probably null |
Het |
Pea15a |
C |
T |
1: 172,026,704 (GRCm39) |
R79H |
probably benign |
Het |
Pik3ca |
A |
C |
3: 32,492,076 (GRCm39) |
I225L |
possibly damaging |
Het |
Pim3 |
T |
A |
15: 88,748,793 (GRCm39) |
I270N |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,829,112 (GRCm39) |
R1043S |
probably damaging |
Het |
Plekhg6 |
A |
G |
6: 125,354,431 (GRCm39) |
S70P |
probably benign |
Het |
Ptpn13 |
T |
A |
5: 103,637,527 (GRCm39) |
D138E |
possibly damaging |
Het |
Rap1gap |
T |
C |
4: 137,455,034 (GRCm39) |
L354P |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Sf3a1 |
T |
A |
11: 4,127,443 (GRCm39) |
S590T |
probably benign |
Het |
Slc14a2 |
T |
C |
18: 78,206,304 (GRCm39) |
|
probably benign |
Het |
Slfn3 |
T |
G |
11: 83,103,798 (GRCm39) |
I223S |
probably benign |
Het |
Smarca1 |
C |
T |
X: 46,964,160 (GRCm39) |
V331I |
probably benign |
Het |
Soat1 |
A |
G |
1: 156,265,267 (GRCm39) |
|
probably benign |
Het |
Tinagl1 |
A |
G |
4: 130,061,226 (GRCm39) |
V308A |
probably benign |
Het |
Tomm22 |
T |
A |
15: 79,555,488 (GRCm39) |
Y78N |
probably damaging |
Het |
Ttll1 |
T |
C |
15: 83,380,609 (GRCm39) |
Y252C |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,623,474 (GRCm39) |
V15368I |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,147,684 (GRCm39) |
|
probably benign |
Het |
Wbp2 |
T |
C |
11: 115,970,424 (GRCm39) |
|
probably null |
Het |
Xkr7 |
A |
T |
2: 152,896,177 (GRCm39) |
I344F |
probably damaging |
Het |
Zfp947 |
A |
T |
17: 22,364,919 (GRCm39) |
C252S |
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 |
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'- ACTGGTAGGAACATGGCCTG -3'
(R):5'- AACCCACTTTAGCTGGAAATCTAG -3'
Sequencing Primer
(F):5'- TAGGAACATGGCCTGTGTCCTC -3'
(R):5'- AATCTAGATAAAGGGAAAGAAATGCC -3'
|
Posted On |
2014-10-16 |