Incidental Mutation 'R5665:Nphp4'
| ID |
444326 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nphp4
|
| Ensembl Gene |
ENSMUSG00000039577 |
| Gene Name |
nephronophthisis 4 (juvenile) homolog (human) |
| Synonyms |
nmf192, 4930564O18Rik |
| MMRRC Submission |
043308-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R5665 (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 C
at 152590942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 313
(V313A)
|
| 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: V313A
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000049920
Gene: ENSMUSG00000039577
AA Change: V313A
| 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: V313A
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000080128
Gene: ENSMUSG00000039577
AA Change: V313A
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Acaca |
G |
T |
11: 84,136,120 (GRCm39) |
E492* |
probably null |
Het |
| Acp7 |
T |
A |
7: 28,315,968 (GRCm39) |
K206M |
probably benign |
Het |
| Agbl1 |
T |
A |
7: 76,239,251 (GRCm39) |
F584I |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,930,946 (GRCm39) |
I929V |
possibly damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,238,357 (GRCm39) |
I1279V |
possibly damaging |
Het |
| Arl14 |
A |
C |
3: 69,130,371 (GRCm39) |
T173P |
probably damaging |
Het |
| Asap1 |
A |
G |
15: 64,184,302 (GRCm39) |
S44P |
probably damaging |
Het |
| Btbd7 |
C |
A |
12: 102,751,456 (GRCm39) |
A1103S |
probably benign |
Het |
| Capn10 |
T |
A |
1: 92,865,653 (GRCm39) |
|
probably null |
Het |
| Capn7 |
T |
C |
14: 31,091,759 (GRCm39) |
F719L |
probably benign |
Het |
| Casp7 |
G |
A |
19: 56,429,414 (GRCm39) |
D267N |
probably benign |
Het |
| Ccdc13 |
C |
A |
9: 121,643,356 (GRCm39) |
K348N |
probably damaging |
Het |
| Chchd1 |
T |
C |
14: 20,753,178 (GRCm39) |
F13L |
probably benign |
Het |
| Clcn6 |
T |
A |
4: 148,099,018 (GRCm39) |
M442L |
possibly damaging |
Het |
| Col6a3 |
T |
C |
1: 90,755,602 (GRCm39) |
E229G |
probably benign |
Het |
| Cyb5r3 |
A |
G |
15: 83,038,755 (GRCm39) |
F278S |
probably damaging |
Het |
| Dhx16 |
C |
T |
17: 36,201,978 (GRCm39) |
Q1002* |
probably null |
Het |
| Dppa4 |
T |
C |
16: 48,111,378 (GRCm39) |
L121P |
probably benign |
Het |
| Dpyd |
A |
G |
3: 118,710,741 (GRCm39) |
E383G |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,853,900 (GRCm39) |
T489A |
probably benign |
Het |
| Elovl1 |
G |
T |
4: 118,288,832 (GRCm39) |
V174L |
probably damaging |
Het |
| Elp3 |
T |
C |
14: 65,788,851 (GRCm39) |
K392E |
possibly damaging |
Het |
| Fancd2os |
C |
A |
6: 113,574,985 (GRCm39) |
W7L |
probably damaging |
Het |
| Fchsd2 |
A |
G |
7: 100,759,991 (GRCm39) |
T23A |
possibly damaging |
Het |
| Gabrp |
C |
G |
11: 33,504,308 (GRCm39) |
A336P |
possibly damaging |
Het |
| Gcm2 |
T |
A |
13: 41,263,387 (GRCm39) |
Y15F |
possibly damaging |
Het |
| Gpr132 |
G |
A |
12: 112,816,416 (GRCm39) |
R137C |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,372,717 (GRCm39) |
E3091G |
probably damaging |
Het |
| Homer1 |
A |
T |
13: 93,492,610 (GRCm39) |
M184L |
probably benign |
Het |
| Izumo1r |
T |
C |
9: 14,812,145 (GRCm39) |
E117G |
probably damaging |
Het |
| Kcnt1 |
C |
T |
2: 25,791,921 (GRCm39) |
Q590* |
probably null |
Het |
| Lama1 |
G |
T |
17: 68,077,982 (GRCm39) |
C1139F |
probably damaging |
Het |
| Med29 |
C |
T |
7: 28,086,239 (GRCm39) |
A190T |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,569,600 (GRCm39) |
V220A |
probably benign |
Het |
| Mxra8 |
G |
T |
4: 155,927,378 (GRCm39) |
V388L |
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,051,463 (GRCm39) |
|
probably null |
Het |
| Myrip |
A |
G |
9: 120,290,499 (GRCm39) |
Y706C |
probably damaging |
Het |
| Oga |
A |
C |
19: 45,765,436 (GRCm39) |
S124A |
probably benign |
Het |
| Olfm2 |
T |
G |
9: 20,579,840 (GRCm39) |
|
probably null |
Het |
| Or10ag52 |
T |
A |
2: 87,044,072 (GRCm39) |
S279T |
probably benign |
Het |
| Or10x4 |
T |
C |
1: 174,218,941 (GRCm39) |
F102S |
probably damaging |
Het |
| Pcdh15 |
C |
T |
10: 74,462,620 (GRCm39) |
P1398L |
probably damaging |
Het |
| Pdpr |
A |
G |
8: 111,841,443 (GRCm39) |
E225G |
possibly damaging |
Het |
| Pigs |
C |
A |
11: 78,219,595 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,658,755 (GRCm39) |
T159S |
probably damaging |
Het |
| Plk4 |
A |
G |
3: 40,768,021 (GRCm39) |
T87A |
possibly damaging |
Het |
| Plxna4 |
T |
C |
6: 32,192,657 (GRCm39) |
Y768C |
probably damaging |
Het |
| Prl3d3 |
T |
A |
13: 27,343,064 (GRCm39) |
|
probably null |
Het |
| Pygb |
T |
C |
2: 150,662,808 (GRCm39) |
|
probably null |
Het |
| Rnf114 |
T |
C |
2: 167,352,854 (GRCm39) |
I118T |
possibly damaging |
Het |
| Sbno2 |
A |
G |
10: 79,894,287 (GRCm39) |
L1099P |
probably benign |
Het |
| Scaper |
T |
C |
9: 55,714,916 (GRCm39) |
K791E |
probably damaging |
Het |
| Serping1 |
T |
C |
2: 84,601,889 (GRCm39) |
T194A |
probably damaging |
Het |
| Slc12a9 |
A |
G |
5: 137,319,665 (GRCm39) |
S617P |
possibly damaging |
Het |
| Slk |
G |
A |
19: 47,624,896 (GRCm39) |
R1039H |
probably damaging |
Het |
| Sntb1 |
T |
A |
15: 55,655,535 (GRCm39) |
E227V |
probably benign |
Het |
| Sostdc1 |
C |
A |
12: 36,364,407 (GRCm39) |
P39T |
probably benign |
Het |
| Spred1 |
C |
T |
2: 116,983,486 (GRCm39) |
R16* |
probably null |
Het |
| Srpk2 |
A |
G |
5: 23,723,475 (GRCm39) |
I547T |
probably damaging |
Het |
| Stt3a |
A |
G |
9: 36,670,610 (GRCm39) |
Y54H |
probably damaging |
Het |
| Stt3b |
A |
T |
9: 115,095,215 (GRCm39) |
L272H |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 76,154,991 (GRCm39) |
|
probably null |
Het |
| Uso1 |
A |
T |
5: 92,346,196 (GRCm39) |
E793V |
possibly damaging |
Het |
| Usp15 |
A |
T |
10: 122,966,892 (GRCm39) |
L476* |
probably null |
Het |
| Vmn1r189 |
T |
C |
13: 22,286,336 (GRCm39) |
Y167C |
probably damaging |
Het |
| Vmn2r24 |
A |
G |
6: 123,763,938 (GRCm39) |
T272A |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,646,054 (GRCm39) |
H1994Q |
probably damaging |
Het |
| Zbtb10 |
T |
C |
3: 9,330,252 (GRCm39) |
S537P |
probably damaging |
Het |
| Zbtb12 |
T |
C |
17: 35,114,859 (GRCm39) |
S215P |
possibly damaging |
Het |
| Zfp346 |
T |
C |
13: 55,260,915 (GRCm39) |
M81T |
probably benign |
Het |
| Zfp800 |
T |
C |
6: 28,244,512 (GRCm39) |
D151G |
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 |
|
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 |
|
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'- TTCCCAGACATGCAGAACTC -3'
(R):5'- TGTCCATCCCCGAGGTTTATG -3'
Sequencing Primer
(F):5'- GACATGCAGAACTCATCTCTCTAC -3'
(R):5'- TTGACGGAAAAGCACAGCTC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation