Incidental Mutation 'R9711:Nphp4'
| ID |
730143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nphp4
|
| Ensembl Gene |
ENSMUSG00000039577 |
| Gene Name |
nephronophthisis 4 (juvenile) homolog (human) |
| Synonyms |
nmf192, 4930564O18Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R9711 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
152561163-152647640 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 152623434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 703
(V703I)
|
| 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: V703I
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000049920
Gene: ENSMUSG00000039577
AA Change: V703I
| 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: V703I
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000080128
Gene: ENSMUSG00000039577
AA Change: V703I
| 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: 99.7%
- 20x: 99.0%
|
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,275,388 (GRCm39) |
D430G |
probably damaging |
Het |
| Adgrf1 |
T |
C |
17: 43,621,580 (GRCm39) |
S606P |
possibly damaging |
Het |
| Afap1 |
A |
G |
5: 36,141,540 (GRCm39) |
N475D |
probably damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,739,468 (GRCm39) |
S1535P |
possibly damaging |
Het |
| Akt1 |
G |
T |
12: 112,624,885 (GRCm39) |
H194N |
possibly damaging |
Het |
| Api5 |
T |
A |
2: 94,251,812 (GRCm39) |
Q396L |
possibly damaging |
Het |
| Aplp2 |
T |
C |
9: 31,083,303 (GRCm39) |
N148S |
probably benign |
Het |
| Asb3 |
A |
G |
11: 31,031,400 (GRCm39) |
Y340C |
probably damaging |
Het |
| Bbox1 |
A |
T |
2: 110,098,581 (GRCm39) |
M332K |
probably damaging |
Het |
| Cabin1 |
A |
T |
10: 75,579,090 (GRCm39) |
S449T |
probably benign |
Het |
| Carns1 |
A |
G |
19: 4,216,007 (GRCm39) |
V725A |
possibly damaging |
Het |
| Cdkn1b |
A |
G |
6: 134,898,058 (GRCm39) |
K59R |
possibly damaging |
Het |
| Cdv3 |
A |
T |
9: 103,233,539 (GRCm39) |
I212K |
probably damaging |
Het |
| Clec14a |
T |
A |
12: 58,314,432 (GRCm39) |
I397F |
probably damaging |
Het |
| Cnnm1 |
A |
G |
19: 43,483,469 (GRCm39) |
I950V |
possibly damaging |
Het |
| Ddi2 |
A |
G |
4: 141,422,734 (GRCm39) |
M326T |
probably benign |
Het |
| Dhx30 |
T |
C |
9: 109,914,103 (GRCm39) |
T1065A |
probably benign |
Het |
| Eif3c |
A |
T |
7: 126,146,674 (GRCm39) |
M808K |
possibly damaging |
Het |
| Evi2 |
G |
T |
11: 79,406,971 (GRCm39) |
H201Q |
possibly damaging |
Het |
| Exoc4 |
A |
G |
6: 33,452,991 (GRCm39) |
T494A |
unknown |
Het |
| Fam83f |
T |
A |
15: 80,574,819 (GRCm39) |
M242K |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,055,374 (GRCm39) |
Y4198H |
probably benign |
Het |
| Fcgbp |
C |
A |
7: 27,793,000 (GRCm39) |
N1001K |
probably benign |
Het |
| Gda |
G |
T |
19: 21,400,449 (GRCm39) |
A164E |
probably damaging |
Het |
| Gm19410 |
T |
C |
8: 36,279,493 (GRCm39) |
V1786A |
possibly damaging |
Het |
| Gm45871 |
A |
G |
18: 90,609,069 (GRCm39) |
N82S |
probably benign |
Het |
| Gnas |
T |
A |
2: 174,141,392 (GRCm39) |
S580T |
unknown |
Het |
| Gprin1 |
G |
A |
13: 54,886,714 (GRCm39) |
P520L |
probably benign |
Het |
| Gramd4 |
C |
T |
15: 86,014,751 (GRCm39) |
R433C |
probably damaging |
Het |
| Ighv5-12 |
T |
A |
12: 113,665,958 (GRCm39) |
T47S |
probably benign |
Het |
| Itprid1 |
T |
G |
6: 55,864,018 (GRCm39) |
S115A |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,367,658 (GRCm39) |
L451Q |
probably damaging |
Het |
| Kif12 |
T |
A |
4: 63,084,126 (GRCm39) |
R624S |
probably benign |
Het |
| Lepr |
T |
A |
4: 101,592,851 (GRCm39) |
Y155* |
probably null |
Het |
| Lnx2 |
T |
A |
5: 146,961,376 (GRCm39) |
I519F |
probably damaging |
Het |
| Marchf7 |
T |
A |
2: 60,060,175 (GRCm39) |
S101T |
probably damaging |
Het |
| Miox |
A |
G |
15: 89,220,785 (GRCm39) |
D230G |
probably damaging |
Het |
| Morc2a |
T |
A |
11: 3,600,381 (GRCm39) |
M1K |
probably null |
Het |
| Mtus1 |
T |
C |
8: 41,536,222 (GRCm39) |
N498S |
probably damaging |
Het |
| Mxd1 |
T |
A |
6: 86,645,554 (GRCm39) |
R46W |
probably damaging |
Het |
| Ndufa11 |
G |
C |
17: 57,024,843 (GRCm39) |
A2P |
possibly damaging |
Het |
| Necab2 |
C |
T |
8: 120,198,513 (GRCm39) |
H362Y |
probably damaging |
Het |
| Nup54 |
T |
C |
5: 92,582,218 (GRCm39) |
N31S |
unknown |
Het |
| Or13a23-ps1 |
T |
A |
7: 140,118,497 (GRCm39) |
S22R |
probably benign |
Het |
| Or1ad6 |
T |
C |
11: 50,860,316 (GRCm39) |
L157P |
probably damaging |
Het |
| Or1e34 |
A |
T |
11: 73,778,696 (GRCm39) |
C167* |
probably null |
Het |
| Or8b4 |
A |
C |
9: 37,830,066 (GRCm39) |
T38P |
probably damaging |
Het |
| P2rx2 |
T |
C |
5: 110,490,388 (GRCm39) |
E109G |
possibly damaging |
Het |
| Pcdha7 |
T |
C |
18: 37,107,409 (GRCm39) |
S145P |
probably damaging |
Het |
| Pdlim5 |
A |
T |
3: 141,948,529 (GRCm39) |
V586E |
probably damaging |
Het |
| Pex5l |
T |
C |
3: 33,136,204 (GRCm39) |
E5G |
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,615,176 (GRCm39) |
D774V |
probably damaging |
Het |
| Plekhg3 |
A |
T |
12: 76,611,726 (GRCm39) |
D335V |
possibly damaging |
Het |
| Pop1 |
A |
G |
15: 34,530,227 (GRCm39) |
H905R |
probably benign |
Het |
| Ppm1k |
T |
C |
6: 57,492,720 (GRCm39) |
T189A |
probably damaging |
Het |
| Pramel13 |
A |
G |
4: 144,122,517 (GRCm39) |
L9P |
probably damaging |
Het |
| Recql5 |
A |
G |
11: 115,784,367 (GRCm39) |
V911A |
probably damaging |
Het |
| Rnf145 |
T |
A |
11: 44,415,830 (GRCm39) |
L15* |
probably null |
Het |
| Rpl13a |
A |
G |
7: 44,776,673 (GRCm39) |
V29A |
probably benign |
Het |
| Rps6ka5 |
A |
G |
12: 100,540,250 (GRCm39) |
V491A |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,900,142 (GRCm39) |
H1175R |
probably benign |
Het |
| Setd5 |
T |
C |
6: 113,093,063 (GRCm39) |
S372P |
probably damaging |
Het |
| Slc1a3 |
T |
C |
15: 8,675,177 (GRCm39) |
E276G |
probably damaging |
Het |
| Slc36a2 |
T |
C |
11: 55,070,169 (GRCm39) |
N136S |
probably benign |
Het |
| Spag1 |
G |
A |
15: 36,190,683 (GRCm39) |
|
probably null |
Het |
| Spon1 |
A |
C |
7: 113,387,685 (GRCm39) |
T81P |
probably damaging |
Het |
| Sv2b |
A |
T |
7: 74,856,238 (GRCm39) |
D17E |
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,649,667 (GRCm39) |
V44A |
probably benign |
Het |
| Tax1bp1 |
C |
T |
6: 52,704,215 (GRCm39) |
T65I |
probably damaging |
Het |
| Tenm2 |
C |
A |
11: 35,915,341 (GRCm39) |
K2065N |
probably damaging |
Het |
| Ticam2 |
T |
C |
18: 46,693,658 (GRCm39) |
D143G |
probably damaging |
Het |
| Tmem132d |
T |
C |
5: 127,869,579 (GRCm39) |
E585G |
possibly damaging |
Het |
| Tnfrsf8 |
C |
T |
4: 145,019,668 (GRCm39) |
|
probably null |
Het |
| Trim44 |
C |
T |
2: 102,230,813 (GRCm39) |
G73R |
unknown |
Het |
| Trpc3 |
C |
T |
3: 36,692,713 (GRCm39) |
D760N |
possibly damaging |
Het |
| Tspan9 |
T |
A |
6: 127,942,715 (GRCm39) |
M171L |
probably benign |
Het |
| Ugt2b37 |
A |
G |
5: 87,402,532 (GRCm39) |
F33S |
possibly damaging |
Het |
| Vav2 |
A |
T |
2: 27,159,027 (GRCm39) |
V734E |
probably damaging |
Het |
| Vmn1r214 |
A |
G |
13: 23,218,508 (GRCm39) |
M1V |
probably null |
Het |
| Vmn1r24 |
A |
T |
6: 57,932,804 (GRCm39) |
V238E |
probably damaging |
Het |
| Vmn2r107 |
A |
G |
17: 20,577,262 (GRCm39) |
Q420R |
probably damaging |
Het |
| Vmn2r31 |
G |
A |
7: 7,387,085 (GRCm39) |
P829S |
probably damaging |
Het |
| Xpo6 |
A |
G |
7: 125,712,873 (GRCm39) |
F703L |
probably benign |
Het |
| Zfp442 |
T |
A |
2: 150,250,207 (GRCm39) |
H565L |
possibly damaging |
Het |
| Zfp950 |
A |
T |
19: 61,116,000 (GRCm39) |
D2E |
probably damaging |
Het |
| Zfp992 |
T |
A |
4: 146,551,345 (GRCm39) |
S355R |
probably damaging |
Het |
| Zwilch |
A |
T |
9: 64,063,303 (GRCm39) |
F309Y |
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 |
|
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 |
|
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'- TCACACCCTGGGATTACATCAC -3'
(R):5'- AGTCCGTAAGATCTCTCCCAG -3'
Sequencing Primer
(F):5'- GGATTACATCACACTCTGTGGATGTC -3'
(R):5'- GTAAGATCTCTCCCAGCCTCCATG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation