Incidental Mutation 'R5551:Katnip'
| ID |
435125 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Katnip
|
| Ensembl Gene |
ENSMUSG00000032743 |
| Gene Name |
katanin interacting protein |
| Synonyms |
D430042O09Rik |
| MMRRC Submission |
043108-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5551 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
125307060-125473965 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125419249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 472
(F472S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069660]
[ENSMUST00000124223]
|
| AlphaFold |
Q8C753 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069660
AA Change: F498S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743
AA Change: F498S
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_3
|
442 |
586 |
9.64e-5 |
PROSPERO |
|
internal_repeat_2
|
454 |
607 |
1.91e-6 |
PROSPERO |
|
low complexity region
|
704 |
718 |
N/A |
INTRINSIC |
|
Pfam:DUF4457
|
909 |
1099 |
5.1e-43 |
PFAM |
|
Pfam:DUF4457
|
1205 |
1524 |
8.4e-149 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122337
|
| SMART Domains |
Protein: ENSMUSP00000113734
Gene: ENSMUSG00000032743
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4457
|
173 |
344 |
2.7e-9 |
PFAM |
|
Pfam:DUF4457
|
218 |
394 |
3.2e-10 |
PFAM |
|
low complexity region
|
444 |
458 |
N/A |
INTRINSIC |
|
Pfam:DUF4457
|
660 |
742 |
1.1e-14 |
PFAM |
|
Pfam:DUF4457
|
733 |
863 |
2.6e-31 |
PFAM |
|
Pfam:DUF4457
|
944 |
1008 |
5.9e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124223
AA Change: F472S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118668
Gene: ENSMUSG00000032743
AA Change: F472S
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_3
|
416 |
560 |
8.9e-5 |
PROSPERO |
|
internal_repeat_2
|
428 |
581 |
1.74e-6 |
PROSPERO |
|
low complexity region
|
678 |
692 |
N/A |
INTRINSIC |
|
Pfam:DUF4457
|
882 |
1073 |
1.4e-39 |
PFAM |
|
Pfam:DUF4457
|
1179 |
1498 |
2.2e-145 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit variable obstructive hydrocephaly and enlarged lateral ventricles resulting from a blockage of cerebrospinal fluid flow in the cerebral aqueduct but show no gross defects in ventricular ependymal cilium structure or motility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB041806 |
G |
T |
4: 138,123,312 (GRCm39) |
P3T |
probably damaging |
Het |
| Abl1 |
C |
T |
2: 31,691,682 (GRCm39) |
A1048V |
probably benign |
Het |
| Acap2 |
A |
G |
16: 30,923,726 (GRCm39) |
V659A |
probably damaging |
Het |
| Acox1 |
A |
G |
11: 116,080,317 (GRCm39) |
S29P |
possibly damaging |
Het |
| Adamts1 |
A |
G |
16: 85,594,634 (GRCm39) |
I405T |
probably benign |
Het |
| Afm |
A |
T |
5: 90,679,511 (GRCm39) |
E335V |
probably null |
Het |
| Akap6 |
C |
T |
12: 52,842,747 (GRCm39) |
P32S |
probably damaging |
Het |
| Alk |
T |
C |
17: 72,182,028 (GRCm39) |
M1332V |
possibly damaging |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Atp2c1 |
C |
A |
9: 105,336,936 (GRCm39) |
A16S |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,844,753 (GRCm39) |
E1438G |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,404,741 (GRCm39) |
Y2376H |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 48,177,492 (GRCm39) |
T349A |
probably benign |
Het |
| Ctsr |
A |
T |
13: 61,307,357 (GRCm39) |
M313K |
probably damaging |
Het |
| Dot1l |
CCAGCCCCACCCTCAGCC |
CCAGCC |
10: 80,619,462 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,031,718 (GRCm39) |
S3516P |
possibly damaging |
Het |
| Ehd4 |
A |
G |
2: 119,958,100 (GRCm39) |
S162P |
possibly damaging |
Het |
| Ets2 |
T |
C |
16: 95,513,165 (GRCm39) |
W114R |
probably damaging |
Het |
| Fignl1 |
A |
T |
11: 11,751,603 (GRCm39) |
V484E |
probably damaging |
Het |
| Golph3 |
C |
A |
15: 12,321,922 (GRCm39) |
S35R |
probably benign |
Het |
| Gzf1 |
T |
C |
2: 148,526,248 (GRCm39) |
Y240H |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,558,639 (GRCm39) |
F75S |
possibly damaging |
Het |
| Ifi209 |
T |
A |
1: 173,468,763 (GRCm39) |
S198T |
probably benign |
Het |
| Iqch |
A |
T |
9: 63,403,535 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
C |
T |
15: 91,696,553 (GRCm39) |
T2447I |
probably benign |
Het |
| Mesp2 |
T |
C |
7: 79,461,367 (GRCm39) |
S231P |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,422,240 (GRCm39) |
C4459R |
possibly damaging |
Het |
| Myh10 |
A |
G |
11: 68,659,113 (GRCm39) |
E497G |
possibly damaging |
Het |
| Nalcn |
A |
T |
14: 123,515,698 (GRCm39) |
V1701E |
possibly damaging |
Het |
| Nat8f1 |
T |
C |
6: 85,887,891 (GRCm39) |
D23G |
probably damaging |
Het |
| Nfia |
G |
A |
4: 97,902,497 (GRCm39) |
E250K |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,177,817 (GRCm39) |
M1067V |
probably benign |
Het |
| Or4k36 |
T |
C |
2: 111,145,916 (GRCm39) |
F31L |
possibly damaging |
Het |
| Pde4d |
T |
A |
13: 110,084,930 (GRCm39) |
|
probably null |
Het |
| Rtn4 |
G |
A |
11: 29,691,011 (GRCm39) |
V1101I |
probably damaging |
Het |
| Sema4c |
A |
G |
1: 36,591,398 (GRCm39) |
Y348H |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,381,595 (GRCm39) |
V958A |
possibly damaging |
Het |
| Sez6l2 |
A |
G |
7: 126,566,002 (GRCm39) |
Y677C |
probably damaging |
Het |
| Smad5 |
T |
C |
13: 56,883,654 (GRCm39) |
C347R |
probably damaging |
Het |
| Smim19 |
A |
G |
8: 22,953,383 (GRCm39) |
Y95H |
probably benign |
Het |
| Srrm2 |
C |
A |
17: 24,037,450 (GRCm39) |
|
probably benign |
Het |
| Ssb |
A |
G |
2: 69,701,474 (GRCm39) |
K390E |
probably damaging |
Het |
| Tars1 |
G |
A |
15: 11,392,068 (GRCm39) |
T248M |
probably damaging |
Het |
| Tcirg1 |
A |
T |
19: 3,948,858 (GRCm39) |
F442L |
probably damaging |
Het |
| Tex55 |
A |
G |
16: 38,648,336 (GRCm39) |
Y258H |
probably benign |
Het |
| Tlk2 |
A |
G |
11: 105,112,133 (GRCm39) |
E162G |
probably benign |
Het |
| Tmc6 |
A |
G |
11: 117,660,271 (GRCm39) |
C656R |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,719,406 (GRCm39) |
|
probably benign |
Het |
| Uqcrc2 |
C |
T |
7: 120,244,461 (GRCm39) |
T201I |
probably damaging |
Het |
| Zfp282 |
G |
T |
6: 47,867,579 (GRCm39) |
A252S |
possibly damaging |
Het |
| Zfp473 |
G |
C |
7: 44,383,575 (GRCm39) |
P253A |
probably benign |
Het |
| Zfp541 |
A |
G |
7: 15,824,786 (GRCm39) |
N1068D |
probably damaging |
Het |
| Zfp946 |
A |
G |
17: 22,674,365 (GRCm39) |
Q373R |
probably damaging |
Het |
| Zmat2 |
G |
A |
18: 36,927,010 (GRCm39) |
G6R |
probably benign |
Het |
|
| Other mutations in Katnip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00697:Katnip
|
APN |
7 |
125,394,622 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL00950:Katnip
|
APN |
7 |
125,442,393 (GRCm39) |
missense |
probably benign |
|
|
IGL01089:Katnip
|
APN |
7 |
125,394,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01099:Katnip
|
APN |
7 |
125,464,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01449:Katnip
|
APN |
7 |
125,469,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01545:Katnip
|
APN |
7 |
125,352,143 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01937:Katnip
|
APN |
7 |
125,453,777 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01949:Katnip
|
APN |
7 |
125,361,014 (GRCm39) |
nonsense |
probably null |
|
|
IGL02096:Katnip
|
APN |
7 |
125,413,993 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02148:Katnip
|
APN |
7 |
125,472,648 (GRCm39) |
splice site |
probably null |
|
|
IGL02274:Katnip
|
APN |
7 |
125,369,742 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02323:Katnip
|
APN |
7 |
125,442,001 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02574:Katnip
|
APN |
7 |
125,428,925 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02639:Katnip
|
APN |
7 |
125,471,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02833:Katnip
|
APN |
7 |
125,449,584 (GRCm39) |
nonsense |
probably null |
|
|
IGL03003:Katnip
|
APN |
7 |
125,451,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03011:Katnip
|
APN |
7 |
125,451,174 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03332:Katnip
|
APN |
7 |
125,419,277 (GRCm39) |
nonsense |
probably null |
|
|
IGL03368:Katnip
|
APN |
7 |
125,468,030 (GRCm39) |
intron |
probably benign |
|
|
E0370:Katnip
|
UTSW |
7 |
125,449,474 (GRCm39) |
missense |
probably benign |
0.06 |
|
PIT4498001:Katnip
|
UTSW |
7 |
125,412,768 (GRCm39) |
missense |
probably benign |
|
|
R0033:Katnip
|
UTSW |
7 |
125,360,999 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0033:Katnip
|
UTSW |
7 |
125,360,999 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0234:Katnip
|
UTSW |
7 |
125,394,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0234:Katnip
|
UTSW |
7 |
125,394,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0472:Katnip
|
UTSW |
7 |
125,472,139 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0479:Katnip
|
UTSW |
7 |
125,442,518 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1195:Katnip
|
UTSW |
7 |
125,465,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1195:Katnip
|
UTSW |
7 |
125,465,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1195:Katnip
|
UTSW |
7 |
125,465,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1223:Katnip
|
UTSW |
7 |
125,359,595 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1299:Katnip
|
UTSW |
7 |
125,451,195 (GRCm39) |
missense |
probably benign |
|
|
R1331:Katnip
|
UTSW |
7 |
125,465,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1484:Katnip
|
UTSW |
7 |
125,415,743 (GRCm39) |
splice site |
probably benign |
|
|
R1507:Katnip
|
UTSW |
7 |
125,465,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1562:Katnip
|
UTSW |
7 |
125,442,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Katnip
|
UTSW |
7 |
125,419,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2008:Katnip
|
UTSW |
7 |
125,459,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2010:Katnip
|
UTSW |
7 |
125,472,128 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2147:Katnip
|
UTSW |
7 |
125,464,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2508:Katnip
|
UTSW |
7 |
125,394,515 (GRCm39) |
missense |
probably benign |
|
|
R3015:Katnip
|
UTSW |
7 |
125,465,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3794:Katnip
|
UTSW |
7 |
125,419,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3795:Katnip
|
UTSW |
7 |
125,419,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4043:Katnip
|
UTSW |
7 |
125,467,913 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4044:Katnip
|
UTSW |
7 |
125,467,913 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4692:Katnip
|
UTSW |
7 |
125,466,841 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4772:Katnip
|
UTSW |
7 |
125,464,523 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5155:Katnip
|
UTSW |
7 |
125,471,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5467:Katnip
|
UTSW |
7 |
125,442,527 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5560:Katnip
|
UTSW |
7 |
125,453,733 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5662:Katnip
|
UTSW |
7 |
125,441,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5667:Katnip
|
UTSW |
7 |
125,442,627 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5838:Katnip
|
UTSW |
7 |
125,466,827 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5958:Katnip
|
UTSW |
7 |
125,412,807 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5983:Katnip
|
UTSW |
7 |
125,449,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6084:Katnip
|
UTSW |
7 |
125,414,037 (GRCm39) |
missense |
probably benign |
|
|
R6241:Katnip
|
UTSW |
7 |
125,472,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6298:Katnip
|
UTSW |
7 |
125,469,869 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6345:Katnip
|
UTSW |
7 |
125,352,159 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6554:Katnip
|
UTSW |
7 |
125,449,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6715:Katnip
|
UTSW |
7 |
125,361,001 (GRCm39) |
nonsense |
probably null |
|
|
R6745:Katnip
|
UTSW |
7 |
125,369,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7178:Katnip
|
UTSW |
7 |
125,465,499 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7210:Katnip
|
UTSW |
7 |
125,471,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7404:Katnip
|
UTSW |
7 |
125,464,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7561:Katnip
|
UTSW |
7 |
125,441,894 (GRCm39) |
missense |
probably benign |
|
|
R7571:Katnip
|
UTSW |
7 |
125,307,193 (GRCm39) |
unclassified |
probably benign |
|
|
R7584:Katnip
|
UTSW |
7 |
125,469,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7629:Katnip
|
UTSW |
7 |
125,394,422 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7676:Katnip
|
UTSW |
7 |
125,449,549 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7748:Katnip
|
UTSW |
7 |
125,428,973 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7786:Katnip
|
UTSW |
7 |
125,464,466 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8058:Katnip
|
UTSW |
7 |
125,442,188 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8154:Katnip
|
UTSW |
7 |
125,412,802 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8204:Katnip
|
UTSW |
7 |
125,449,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8359:Katnip
|
UTSW |
7 |
125,468,023 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8700:Katnip
|
UTSW |
7 |
125,429,042 (GRCm39) |
splice site |
probably benign |
|
|
R8812:Katnip
|
UTSW |
7 |
125,396,867 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8942:Katnip
|
UTSW |
7 |
125,449,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9216:Katnip
|
UTSW |
7 |
125,471,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9254:Katnip
|
UTSW |
7 |
125,469,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9263:Katnip
|
UTSW |
7 |
125,469,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9379:Katnip
|
UTSW |
7 |
125,469,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9601:Katnip
|
UTSW |
7 |
125,442,092 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9657:Katnip
|
UTSW |
7 |
125,441,956 (GRCm39) |
missense |
probably benign |
|
|
U24488:Katnip
|
UTSW |
7 |
125,369,853 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTCTGCAGAGCCATGGTG -3'
(R):5'- ACCCTCATTGGTGCAGAGAAC -3'
Sequencing Primer
(F):5'- ATGCTGGATGAAGGCCCTG -3'
(R):5'- TTGGTGCAGAGAACACACAC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation