Incidental Mutation 'R7841:Nphp4'
| ID |
606287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nphp4
|
| Ensembl Gene |
ENSMUSG00000039577 |
| Gene Name |
nephronophthisis 4 (juvenile) homolog (human) |
| Synonyms |
nmf192, 4930564O18Rik |
| MMRRC Submission |
045895-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R7841 (G1)
|
| Quality Score |
89.0077 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
152561163-152647640 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 152581140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 108
(S108N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049920
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056567]
[ENSMUST00000081393]
|
| AlphaFold |
P59240 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056567
AA Change: S108N
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000049920
Gene: ENSMUSG00000039577
AA Change: S108N
| 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: S108N
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000080128
Gene: ENSMUSG00000039577
AA Change: S108N
| 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: 99.7%
- 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700016H13Rik |
T |
C |
5: 103,802,806 (GRCm39) |
K16R |
possibly damaging |
Het |
| 2810408A11Rik |
A |
G |
11: 69,790,112 (GRCm39) |
F210L |
probably benign |
Het |
| Adam6a |
G |
T |
12: 113,509,078 (GRCm39) |
D484Y |
probably damaging |
Het |
| B9d1 |
A |
G |
11: 61,397,192 (GRCm39) |
Y29C |
possibly damaging |
Het |
| Cald1 |
T |
C |
6: 34,722,696 (GRCm39) |
F115L |
unknown |
Het |
| Ccnd1 |
A |
T |
7: 144,491,718 (GRCm39) |
M107K |
probably damaging |
Het |
| Ccnh |
G |
A |
13: 85,337,712 (GRCm39) |
A20T |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,126,369 (GRCm39) |
D181G |
probably benign |
Het |
| Cep44 |
AACGC |
A |
8: 56,994,018 (GRCm39) |
|
probably null |
Het |
| Ces2b |
A |
G |
8: 105,561,692 (GRCm39) |
D262G |
probably benign |
Het |
| Cic |
A |
G |
7: 24,985,192 (GRCm39) |
Y1146C |
probably damaging |
Het |
| Cmtm1 |
G |
A |
8: 105,036,108 (GRCm39) |
R174C |
possibly damaging |
Het |
| Cobl |
G |
T |
11: 12,203,324 (GRCm39) |
P1126H |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,245,876 (GRCm39) |
M460K |
unknown |
Het |
| Cst11 |
G |
A |
2: 148,613,227 (GRCm39) |
R33W |
possibly damaging |
Het |
| Cyp19a1 |
A |
T |
9: 54,079,089 (GRCm39) |
V340E |
probably benign |
Het |
| Dbt |
A |
T |
3: 116,339,746 (GRCm39) |
Q378L |
possibly damaging |
Het |
| Dchs1 |
A |
G |
7: 105,412,180 (GRCm39) |
V1312A |
probably benign |
Het |
| Eif3l |
T |
C |
15: 78,973,779 (GRCm39) |
M398T |
probably benign |
Het |
| Faxc |
A |
G |
4: 21,958,584 (GRCm39) |
H247R |
probably benign |
Het |
| Fbxl17 |
T |
C |
17: 63,794,820 (GRCm39) |
R421G |
probably damaging |
Het |
| Fbxo3 |
T |
A |
2: 103,890,337 (GRCm39) |
D450E |
unknown |
Het |
| Fmn1 |
T |
C |
2: 113,359,810 (GRCm39) |
|
probably null |
Het |
| Foxs1 |
T |
A |
2: 152,774,907 (GRCm39) |
M49L |
possibly damaging |
Het |
| Gucy1a2 |
A |
G |
9: 3,634,766 (GRCm39) |
E270G |
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,874,695 (GRCm39) |
D1933G |
probably damaging |
Het |
| Hspa4 |
G |
A |
11: 53,157,887 (GRCm39) |
A572V |
possibly damaging |
Het |
| Ica1 |
T |
A |
6: 8,737,072 (GRCm39) |
D174V |
probably damaging |
Het |
| Igfbp6 |
A |
T |
15: 102,056,352 (GRCm39) |
Q137L |
possibly damaging |
Het |
| Il1r2 |
T |
C |
1: 40,144,628 (GRCm39) |
L105P |
probably damaging |
Het |
| Iqca1 |
A |
T |
1: 89,987,337 (GRCm39) |
C72S |
|
Het |
| Itgbl1 |
T |
C |
14: 124,209,645 (GRCm39) |
|
probably null |
Het |
| Ivl |
T |
A |
3: 92,479,699 (GRCm39) |
Q122L |
possibly damaging |
Het |
| Kdsr |
T |
C |
1: 106,671,415 (GRCm39) |
E198G |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,031,529 (GRCm39) |
T1510A |
probably benign |
Het |
| Lrrc37a |
A |
T |
11: 103,391,931 (GRCm39) |
Y1165N |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,384,267 (GRCm39) |
|
probably null |
Het |
| Myh3 |
A |
G |
11: 66,989,518 (GRCm39) |
E1546G |
probably damaging |
Het |
| Nacad |
A |
T |
11: 6,551,031 (GRCm39) |
V720E |
probably benign |
Het |
| Napa |
A |
G |
7: 15,849,559 (GRCm39) |
D257G |
possibly damaging |
Het |
| Nif3l1 |
T |
C |
1: 58,487,042 (GRCm39) |
V76A |
probably damaging |
Het |
| Nkapd1 |
A |
C |
9: 50,521,716 (GRCm39) |
S68R |
probably damaging |
Het |
| Npr1 |
A |
T |
3: 90,362,175 (GRCm39) |
L990H |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,224,372 (GRCm39) |
R322G |
unknown |
Het |
| Or4a79 |
C |
A |
2: 89,552,309 (GRCm39) |
A49S |
probably benign |
Het |
| Or4q3 |
G |
T |
14: 50,583,285 (GRCm39) |
Q174K |
probably benign |
Het |
| Or52n2c |
T |
A |
7: 104,574,066 (GRCm39) |
I302F |
possibly damaging |
Het |
| Or8c14-ps1 |
T |
G |
9: 38,101,777 (GRCm39) |
M252R |
unknown |
Het |
| Or8c19-ps1 |
T |
A |
9: 38,220,817 (GRCm39) |
V242E |
unknown |
Het |
| Ovch2 |
G |
T |
7: 107,393,298 (GRCm39) |
Q192K |
probably benign |
Het |
| Pcca |
T |
A |
14: 122,800,384 (GRCm39) |
D91E |
probably benign |
Het |
| Pole2 |
T |
C |
12: 69,251,032 (GRCm39) |
T444A |
probably damaging |
Het |
| Ppip5k1 |
T |
C |
2: 121,173,276 (GRCm39) |
K466E |
probably benign |
Het |
| Prr35 |
A |
T |
17: 26,167,458 (GRCm39) |
Y26* |
probably null |
Het |
| Ptgfrn |
A |
T |
3: 100,968,126 (GRCm39) |
I489N |
probably damaging |
Het |
| Rassf1 |
A |
G |
9: 107,438,744 (GRCm39) |
*341W |
probably null |
Het |
| Ret |
G |
A |
6: 118,132,321 (GRCm39) |
P1040S |
probably damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Slc6a17 |
A |
T |
3: 107,384,214 (GRCm39) |
Y377N |
possibly damaging |
Het |
| Snrnp200 |
C |
A |
2: 127,078,754 (GRCm39) |
D1806E |
probably benign |
Het |
| Synj2 |
G |
A |
17: 6,094,419 (GRCm39) |
R1215H |
unknown |
Het |
| Tbc1d5 |
TTGCTGCTGGTGTTGCTGCTGCTGCTGCTG |
TTGCTGCTG |
17: 51,106,950 (GRCm39) |
|
probably benign |
Het |
| Top2a |
A |
T |
11: 98,913,176 (GRCm39) |
D85E |
probably damaging |
Het |
| Tram1l1 |
A |
T |
3: 124,115,353 (GRCm39) |
Q171L |
probably damaging |
Het |
| Tram1l1 |
G |
T |
3: 124,115,354 (GRCm39) |
Q171H |
probably damaging |
Het |
| Tspyl4 |
A |
G |
10: 34,174,267 (GRCm39) |
H253R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,662,490 (GRCm39) |
I23V |
|
Het |
| Ubr5 |
T |
C |
15: 37,981,150 (GRCm39) |
N2376D |
|
Het |
| Ugt2b37 |
T |
C |
5: 87,398,489 (GRCm39) |
N316D |
probably benign |
Het |
| Usp31 |
A |
C |
7: 121,247,679 (GRCm39) |
S1255A |
probably benign |
Het |
| Usp31 |
A |
T |
7: 121,276,535 (GRCm39) |
V334E |
probably damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,690,305 (GRCm39) |
|
probably null |
Het |
| Vmn2r87 |
T |
A |
10: 130,333,095 (GRCm39) |
T52S |
probably benign |
Het |
| Vrk2 |
C |
A |
11: 26,421,457 (GRCm39) |
L500F |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,435,064 (GRCm39) |
I2110F |
unknown |
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 |
|
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'- GCGTGTTGAACTGAACTAGGC -3'
(R):5'- CTAAGGAGAATTAGCACCAGGC -3'
Sequencing Primer
(F):5'- GTATGAACTCCAGCTCCTGAG -3'
(R):5'- GCACCAGGCATATTTACACAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation