Incidental Mutation 'R9274:Nphp4'
ID |
703152 |
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 # |
R9274 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
152561163-152647640 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 152640056 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 981
(Y981H)
|
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: Y981H
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000049920 Gene: ENSMUSG00000039577 AA Change: Y981H
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: Y981H
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000080128 Gene: ENSMUSG00000039577 AA Change: Y981H
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: 99.1%
|
Validation Efficiency |
100% (65/65) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actc1 |
A |
T |
2: 113,879,752 (GRCm39) |
S236T |
probably benign |
Het |
Adam30 |
A |
G |
3: 98,069,267 (GRCm39) |
T239A |
probably benign |
Het |
Aoc1l2 |
T |
C |
6: 48,907,341 (GRCm39) |
F114L |
possibly damaging |
Het |
Ascl2 |
G |
A |
7: 142,521,753 (GRCm39) |
R232C |
probably damaging |
Het |
Atp10a |
C |
A |
7: 58,478,369 (GRCm39) |
Q1471K |
probably benign |
Het |
Avl9 |
T |
A |
6: 56,720,346 (GRCm39) |
D461E |
probably damaging |
Het |
Baiap3 |
T |
A |
17: 25,463,354 (GRCm39) |
Y983F |
probably damaging |
Het |
C1rl |
A |
G |
6: 124,485,483 (GRCm39) |
S285G |
probably benign |
Het |
Cacna1i |
G |
A |
15: 80,254,354 (GRCm39) |
V772M |
probably damaging |
Het |
Ccser2 |
T |
A |
14: 36,660,737 (GRCm39) |
D472V |
possibly damaging |
Het |
Cd244a |
T |
G |
1: 171,401,928 (GRCm39) |
V218G |
probably benign |
Het |
Cdhr1 |
T |
C |
14: 36,802,564 (GRCm39) |
K633R |
probably benign |
Het |
Col14a1 |
A |
G |
15: 55,381,671 (GRCm39) |
Q1748R |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,707,020 (GRCm39) |
Y2638F |
unknown |
Het |
Crnkl1 |
A |
T |
2: 145,765,836 (GRCm39) |
F411L |
probably damaging |
Het |
Crp |
T |
A |
1: 172,526,072 (GRCm39) |
F52L |
possibly damaging |
Het |
Dnah12 |
A |
G |
14: 26,537,374 (GRCm39) |
N2208D |
probably benign |
Het |
Exd2 |
T |
C |
12: 80,539,674 (GRCm39) |
|
probably null |
Het |
F13a1 |
A |
T |
13: 37,052,761 (GRCm39) |
I726N |
probably damaging |
Het |
Fmo6 |
G |
A |
1: 162,747,921 (GRCm39) |
T381I |
probably benign |
Het |
Gdpd5 |
T |
C |
7: 99,107,989 (GRCm39) |
L522P |
probably damaging |
Het |
Gm12790 |
T |
A |
4: 101,824,743 (GRCm39) |
D175V |
possibly damaging |
Het |
Gm3543 |
T |
C |
14: 41,802,125 (GRCm39) |
R120G |
probably damaging |
Het |
Gpatch2 |
T |
A |
1: 186,963,029 (GRCm39) |
D273E |
probably damaging |
Het |
Hlcs |
A |
G |
16: 94,088,785 (GRCm39) |
S66P |
possibly damaging |
Het |
Hmcn1 |
T |
C |
1: 150,506,046 (GRCm39) |
T3827A |
probably benign |
Het |
Ism2 |
G |
A |
12: 87,331,827 (GRCm39) |
Q237* |
probably null |
Het |
Jph2 |
G |
A |
2: 163,239,547 (GRCm39) |
|
probably benign |
Het |
Kcnb2 |
A |
G |
1: 15,781,723 (GRCm39) |
Q865R |
probably benign |
Het |
Kcnh6 |
C |
G |
11: 105,924,860 (GRCm39) |
H941Q |
possibly damaging |
Het |
Kcnk9 |
A |
G |
15: 72,384,224 (GRCm39) |
V318A |
unknown |
Het |
Lemd3 |
G |
A |
10: 120,814,717 (GRCm39) |
A172V |
possibly damaging |
Het |
Lifr |
G |
T |
15: 7,217,591 (GRCm39) |
A840S |
probably damaging |
Het |
Lnpep |
T |
C |
17: 17,758,837 (GRCm39) |
T836A |
probably benign |
Het |
Mapk13 |
A |
G |
17: 28,988,490 (GRCm39) |
Y36C |
probably damaging |
Het |
Mdm2 |
G |
A |
10: 117,541,081 (GRCm39) |
|
probably benign |
Het |
Msmb |
T |
C |
14: 31,870,130 (GRCm39) |
M34T |
probably benign |
Het |
Myo5a |
A |
G |
9: 75,097,279 (GRCm39) |
N1319S |
possibly damaging |
Het |
Myot |
T |
A |
18: 44,479,265 (GRCm39) |
V334E |
probably damaging |
Het |
Nalcn |
A |
G |
14: 123,753,068 (GRCm39) |
I306T |
probably damaging |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nphs2 |
G |
A |
1: 156,144,416 (GRCm39) |
R140Q |
probably damaging |
Het |
Nsa2 |
C |
T |
13: 97,272,170 (GRCm39) |
R17H |
probably benign |
Het |
Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
Obox6 |
T |
C |
7: 15,567,766 (GRCm39) |
H227R |
possibly damaging |
Het |
Or10ak14 |
G |
A |
4: 118,610,883 (GRCm39) |
A286V |
probably benign |
Het |
Or1j14 |
T |
C |
2: 36,417,559 (GRCm39) |
I45T |
probably damaging |
Het |
Or4c1 |
A |
C |
2: 89,133,513 (GRCm39) |
L141R |
probably damaging |
Het |
P2rx2 |
C |
T |
5: 110,489,709 (GRCm39) |
G202D |
probably damaging |
Het |
Pcdh12 |
A |
G |
18: 38,415,950 (GRCm39) |
W392R |
probably damaging |
Het |
Plxna2 |
G |
A |
1: 194,471,136 (GRCm39) |
G969D |
probably damaging |
Het |
Prg4 |
T |
C |
1: 150,331,924 (GRCm39) |
T250A |
possibly damaging |
Het |
Rad54l |
G |
T |
4: 115,967,667 (GRCm39) |
P205Q |
probably damaging |
Het |
Ralgapb |
A |
G |
2: 158,278,539 (GRCm39) |
I334M |
probably damaging |
Het |
Ric3 |
C |
T |
7: 108,647,212 (GRCm39) |
D204N |
probably damaging |
Het |
Rnf10 |
A |
T |
5: 115,385,322 (GRCm39) |
Y557* |
probably null |
Het |
Ruvbl1 |
A |
G |
6: 88,474,334 (GRCm39) |
I446V |
probably benign |
Het |
Serinc3 |
A |
T |
2: 163,468,371 (GRCm39) |
V361D |
probably damaging |
Het |
Slc4a1 |
C |
A |
11: 102,242,047 (GRCm39) |
V864L |
probably benign |
Het |
Slf1 |
C |
A |
13: 77,191,669 (GRCm39) |
*1055L |
probably null |
Het |
Stk25 |
T |
C |
1: 93,552,806 (GRCm39) |
S328G |
probably benign |
Het |
Stpg1 |
T |
C |
4: 135,252,782 (GRCm39) |
F178L |
possibly damaging |
Het |
Tmem25 |
C |
T |
9: 44,706,336 (GRCm39) |
R345H |
probably benign |
Het |
Tssk1 |
A |
T |
16: 17,712,724 (GRCm39) |
I170L |
probably benign |
Het |
Tubg1 |
A |
G |
11: 101,017,241 (GRCm39) |
|
probably benign |
Het |
Uchl3 |
A |
G |
14: 101,903,240 (GRCm39) |
D33G |
probably damaging |
Het |
Vmn1r152 |
A |
T |
7: 22,223,056 (GRCm39) |
H222L |
probably benign |
Het |
Zfp975 |
C |
T |
7: 42,312,299 (GRCm39) |
V105I |
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 |
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'- AGCTGGGACATGGTGTTCAC -3'
(R):5'- TAGAACTGTCCAACGCCCAGAG -3'
Sequencing Primer
(F):5'- GGACATGGTGTTCACCAGATG -3'
(R):5'- ACAGTTGGCTGGGTCACATACAC -3'
|
Posted On |
2022-03-25 |