Incidental Mutation 'R9752:Nphp4'
ID |
732562 |
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 # |
R9752 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
152561163-152647640 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 152621737 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 531
(E531G)
|
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: E531G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000049920 Gene: ENSMUSG00000039577 AA Change: E531G
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: E531G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000080128 Gene: ENSMUSG00000039577 AA Change: E531G
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: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano2 |
C |
T |
6: 125,840,499 (GRCm39) |
T390I |
probably damaging |
Het |
Cc2d2b |
T |
C |
19: 40,781,271 (GRCm39) |
V772A |
probably damaging |
Het |
Cd109 |
A |
G |
9: 78,614,834 (GRCm39) |
I1294V |
probably benign |
Het |
Cic |
A |
G |
7: 24,971,403 (GRCm39) |
E378G |
probably damaging |
Het |
Clhc1 |
C |
T |
11: 29,507,778 (GRCm39) |
P175L |
probably benign |
Het |
Clip1 |
T |
C |
5: 123,760,009 (GRCm39) |
E783G |
probably damaging |
Het |
Cnot1 |
A |
G |
8: 96,488,019 (GRCm39) |
Y546H |
probably damaging |
Het |
Cog7 |
C |
A |
7: 121,580,639 (GRCm39) |
|
probably null |
Het |
Cr2 |
T |
C |
1: 194,823,575 (GRCm39) |
T1008A |
probably benign |
Het |
Diaph1 |
T |
C |
18: 38,036,124 (GRCm39) |
T196A |
unknown |
Het |
Entr1 |
T |
C |
2: 26,276,990 (GRCm39) |
N247D |
probably benign |
Het |
Flg2 |
A |
T |
3: 93,108,467 (GRCm39) |
D165V |
probably damaging |
Het |
Fstl1 |
T |
G |
16: 37,649,534 (GRCm39) |
N249K |
probably damaging |
Het |
Gatad2a |
A |
G |
8: 70,364,839 (GRCm39) |
V515A |
probably benign |
Het |
Gbp2b |
A |
T |
3: 142,313,917 (GRCm39) |
D399V |
probably benign |
Het |
Gna14 |
G |
A |
19: 16,586,781 (GRCm39) |
V319I |
probably benign |
Het |
Grip1 |
A |
G |
10: 119,871,256 (GRCm39) |
D661G |
possibly damaging |
Het |
Gtf3c4 |
C |
A |
2: 28,724,126 (GRCm39) |
L535F |
probably damaging |
Het |
Haus8 |
A |
C |
8: 71,715,731 (GRCm39) |
S36A |
probably damaging |
Het |
Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
Hectd4 |
C |
T |
5: 121,472,415 (GRCm39) |
A2717V |
possibly damaging |
Het |
Hsf5 |
C |
T |
11: 87,513,709 (GRCm39) |
T258M |
probably benign |
Het |
Ifi209 |
A |
T |
1: 173,472,235 (GRCm39) |
I359F |
probably damaging |
Het |
Ighmbp2 |
A |
G |
19: 3,324,360 (GRCm39) |
V302A |
probably benign |
Het |
Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
Itgav |
T |
A |
2: 83,600,451 (GRCm39) |
|
probably null |
Het |
Kcp |
A |
T |
6: 29,497,754 (GRCm39) |
D502E |
probably damaging |
Het |
Kif15 |
T |
C |
9: 122,824,890 (GRCm39) |
|
probably null |
Het |
Lipo2 |
C |
G |
19: 33,723,221 (GRCm39) |
K189N |
possibly damaging |
Het |
Lrch4 |
T |
A |
5: 137,636,218 (GRCm39) |
S390T |
probably benign |
Het |
Mast2 |
G |
T |
4: 116,179,508 (GRCm39) |
H389N |
probably benign |
Het |
Med13 |
A |
G |
11: 86,174,147 (GRCm39) |
Y1784H |
possibly damaging |
Het |
Micu3 |
A |
G |
8: 40,833,751 (GRCm39) |
K462E |
possibly damaging |
Het |
Mrps10 |
T |
C |
17: 47,683,572 (GRCm39) |
|
probably null |
Het |
Msh6 |
T |
C |
17: 88,293,963 (GRCm39) |
L906P |
probably damaging |
Het |
Nrp2 |
A |
T |
1: 62,851,726 (GRCm39) |
Y825F |
probably benign |
Het |
Ntn1 |
C |
T |
11: 68,276,712 (GRCm39) |
V79M |
possibly damaging |
Het |
Nxnl2 |
A |
G |
13: 51,325,507 (GRCm39) |
D50G |
probably damaging |
Het |
Or1e16 |
T |
A |
11: 73,286,479 (GRCm39) |
Y123F |
possibly damaging |
Het |
Or2t26 |
T |
C |
11: 49,039,681 (GRCm39) |
M199T |
probably benign |
Het |
Or52h9 |
A |
T |
7: 104,202,530 (GRCm39) |
I135F |
possibly damaging |
Het |
Or52r1c |
T |
A |
7: 102,735,669 (GRCm39) |
C310S |
probably benign |
Het |
Or6c219 |
T |
C |
10: 129,780,990 (GRCm39) |
R314G |
probably benign |
Het |
Or7e176 |
G |
A |
9: 20,171,204 (GRCm39) |
V23I |
probably benign |
Het |
Ppp1r42 |
A |
G |
1: 10,073,674 (GRCm39) |
|
probably benign |
Het |
Ppp4r3a |
A |
T |
12: 101,008,763 (GRCm39) |
N692K |
probably benign |
Het |
Prr11 |
T |
C |
11: 86,994,416 (GRCm39) |
T77A |
possibly damaging |
Het |
Resf1 |
T |
A |
6: 149,228,068 (GRCm39) |
N371K |
probably benign |
Het |
Rrn3 |
A |
G |
16: 13,631,095 (GRCm39) |
I644V |
probably benign |
Het |
Scd4 |
T |
C |
19: 44,322,475 (GRCm39) |
S23P |
probably benign |
Het |
Slc26a2 |
T |
A |
18: 61,335,010 (GRCm39) |
S148C |
probably benign |
Het |
Slc7a8 |
T |
C |
14: 54,995,931 (GRCm39) |
E157G |
probably benign |
Het |
Spi1 |
A |
G |
2: 90,943,666 (GRCm39) |
H70R |
probably benign |
Het |
Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
Tlr4 |
A |
G |
4: 66,757,912 (GRCm39) |
N235S |
probably benign |
Het |
Trpc6 |
C |
A |
9: 8,643,641 (GRCm39) |
S475R |
probably benign |
Het |
Usp34 |
C |
T |
11: 23,409,182 (GRCm39) |
P2674L |
probably benign |
Het |
Usp48 |
G |
A |
4: 137,341,137 (GRCm39) |
G379D |
probably damaging |
Het |
Vkorc1l1 |
T |
A |
5: 130,011,078 (GRCm39) |
C97* |
probably null |
Het |
Wfikkn2 |
T |
C |
11: 94,129,211 (GRCm39) |
E310G |
probably benign |
Het |
Zfp266 |
T |
A |
9: 20,411,496 (GRCm39) |
N227I |
probably benign |
Het |
Zfp335 |
C |
T |
2: 164,749,347 (GRCm39) |
|
probably null |
Het |
Zfp677 |
T |
A |
17: 21,618,511 (GRCm39) |
C523S |
probably damaging |
Het |
Zrsr2 |
GCTCCTCCTCCTCCTCCT |
GCTCCTCCTCCTCCT |
X: 162,719,750 (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 |
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 |
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'- CATCATTCTCACACATGCGC -3'
(R):5'- TAGGGCATCACGTTCCTGTC -3'
Sequencing Primer
(F):5'- TCACACATGCGCGCACG -3'
(R):5'- TGTCCTGTCTCAGACGCG -3'
|
Posted On |
2022-11-14 |