Incidental Mutation 'R5920:Ift56'
ID |
461520 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ift56
|
Ensembl Gene |
ENSMUSG00000056832 |
Gene Name |
intraflagellar transport 56 |
Synonyms |
hpy, hydrocephalic-polydactyl, 9430097H08Rik, hop, Ttc26 |
MMRRC Submission |
044117-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.578)
|
Stock # |
R5920 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
38358404-38404582 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 38389005 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 430
(Y430C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124369
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159145]
[ENSMUST00000162554]
|
AlphaFold |
Q8BS45 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000159145
|
SMART Domains |
Protein: ENSMUSP00000124873 Gene: ENSMUSG00000056832
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
29 |
N/A |
INTRINSIC |
Pfam:TPR_2
|
58 |
88 |
1.2e-5 |
PFAM |
Pfam:TPR_8
|
58 |
91 |
1.7e-3 |
PFAM |
Pfam:TPR_1
|
61 |
87 |
4.6e-4 |
PFAM |
Pfam:TPR_11
|
63 |
113 |
4.9e-11 |
PFAM |
Pfam:TPR_19
|
67 |
113 |
3.1e-7 |
PFAM |
Pfam:TPR_8
|
89 |
113 |
2e-3 |
PFAM |
Pfam:TPR_1
|
91 |
113 |
1.7e-4 |
PFAM |
Pfam:TPR_2
|
91 |
113 |
2.4e-3 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162554
AA Change: Y430C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124369 Gene: ENSMUSG00000056832 AA Change: Y430C
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
29 |
N/A |
INTRINSIC |
Pfam:TPR_2
|
58 |
88 |
2.7e-5 |
PFAM |
Pfam:TPR_11
|
63 |
117 |
9e-9 |
PFAM |
Pfam:TPR_9
|
157 |
227 |
9.2e-4 |
PFAM |
Blast:TPR
|
359 |
392 |
9e-10 |
BLAST |
Blast:TPR
|
461 |
494 |
8e-15 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 92.4%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a spontaneous nonsense mutation exhibit partial prenatal lethality, a hopping gait, preaxial polydactyly, male sterility due to lack of sperm flagella, impaired hearing, and patterning defects that are typical of impaired Hedgehog signaling. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
T |
C |
8: 25,164,091 (GRCm39) |
K31E |
probably damaging |
Het |
Ak9 |
T |
A |
10: 41,296,672 (GRCm39) |
C1473S |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,088,631 (GRCm39) |
L139S |
probably damaging |
Het |
Arhgap45 |
T |
A |
10: 79,864,965 (GRCm39) |
V849D |
possibly damaging |
Het |
Atp13a1 |
G |
A |
8: 70,252,746 (GRCm39) |
E689K |
probably benign |
Het |
Calcr |
G |
A |
6: 3,722,994 (GRCm39) |
R11W |
probably damaging |
Het |
Casd1 |
T |
A |
6: 4,641,853 (GRCm39) |
L710Q |
probably null |
Het |
Cenpc1 |
T |
A |
5: 86,168,769 (GRCm39) |
T743S |
probably benign |
Het |
Cfap43 |
A |
G |
19: 47,749,335 (GRCm39) |
V1185A |
possibly damaging |
Het |
Chd2 |
A |
G |
7: 73,187,060 (GRCm39) |
L33P |
probably damaging |
Het |
Col24a1 |
G |
T |
3: 145,133,985 (GRCm39) |
G889C |
probably damaging |
Het |
Cracdl |
T |
A |
1: 37,677,062 (GRCm39) |
K40M |
probably damaging |
Het |
Dbh |
T |
C |
2: 27,067,243 (GRCm39) |
|
probably benign |
Het |
Dcdc2c |
T |
C |
12: 28,585,536 (GRCm39) |
I154V |
possibly damaging |
Het |
Eif2b5 |
G |
T |
16: 20,317,694 (GRCm39) |
A11S |
unknown |
Het |
Frmd4a |
T |
G |
2: 4,337,927 (GRCm39) |
N44K |
probably benign |
Het |
Fsip2 |
C |
T |
2: 82,818,852 (GRCm39) |
Q4862* |
probably null |
Het |
Hectd4 |
C |
T |
5: 121,446,334 (GRCm39) |
T1513I |
possibly damaging |
Het |
Hspg2 |
A |
T |
4: 137,281,093 (GRCm39) |
D3355V |
probably damaging |
Het |
Il16 |
G |
A |
7: 83,301,552 (GRCm39) |
T190I |
probably benign |
Het |
Immt |
T |
A |
6: 71,840,180 (GRCm39) |
V319D |
probably benign |
Het |
Kdm2b |
G |
C |
5: 123,018,359 (GRCm39) |
S989W |
probably damaging |
Het |
Kmt2e |
A |
G |
5: 23,704,440 (GRCm39) |
E1211G |
possibly damaging |
Het |
Ktn1 |
G |
T |
14: 47,961,481 (GRCm39) |
G1061* |
probably null |
Het |
Mast3 |
T |
C |
8: 71,240,577 (GRCm39) |
I287V |
probably benign |
Het |
Mrgpre |
T |
A |
7: 143,335,465 (GRCm39) |
T13S |
probably benign |
Het |
Myoc |
C |
T |
1: 162,467,128 (GRCm39) |
A99V |
probably benign |
Het |
Or10a49 |
C |
A |
7: 108,467,895 (GRCm39) |
M155I |
probably benign |
Het |
Otulinl |
T |
A |
15: 27,664,442 (GRCm39) |
R109S |
possibly damaging |
Het |
Per3 |
G |
A |
4: 151,096,907 (GRCm39) |
P873S |
probably benign |
Het |
Phykpl |
A |
C |
11: 51,493,622 (GRCm39) |
E453A |
probably benign |
Het |
Pkd2l2 |
A |
T |
18: 34,563,826 (GRCm39) |
I514L |
probably benign |
Het |
Plcl2 |
G |
T |
17: 50,915,703 (GRCm39) |
R904L |
probably damaging |
Het |
Ptpn1 |
A |
G |
2: 167,813,668 (GRCm39) |
D137G |
probably benign |
Het |
Rasal3 |
G |
A |
17: 32,614,143 (GRCm39) |
P571S |
probably damaging |
Het |
Sdha |
A |
G |
13: 74,475,044 (GRCm39) |
|
probably null |
Het |
Tbc1d31 |
C |
A |
15: 57,805,954 (GRCm39) |
Q439K |
probably benign |
Het |
Ttc12 |
T |
C |
9: 49,364,633 (GRCm39) |
D381G |
possibly damaging |
Het |
Uaca |
T |
A |
9: 60,776,885 (GRCm39) |
M424K |
probably benign |
Het |
Usp33 |
G |
T |
3: 152,080,320 (GRCm39) |
A484S |
probably damaging |
Het |
Usp9y |
A |
G |
Y: 1,316,730 (GRCm39) |
S1940P |
probably damaging |
Het |
Zfp532 |
G |
A |
18: 65,777,421 (GRCm39) |
V893I |
probably benign |
Het |
|
Other mutations in Ift56 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00927:Ift56
|
APN |
6 |
38,359,155 (GRCm39) |
splice site |
probably benign |
|
IGL02049:Ift56
|
APN |
6 |
38,402,067 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02403:Ift56
|
APN |
6 |
38,386,373 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02902:Ift56
|
APN |
6 |
38,402,097 (GRCm39) |
missense |
probably benign |
0.21 |
IGL03189:Ift56
|
APN |
6 |
38,402,166 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03410:Ift56
|
APN |
6 |
38,362,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R0346:Ift56
|
UTSW |
6 |
38,386,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R0562:Ift56
|
UTSW |
6 |
38,378,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R0826:Ift56
|
UTSW |
6 |
38,402,049 (GRCm39) |
splice site |
probably null |
|
R1212:Ift56
|
UTSW |
6 |
38,387,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R1778:Ift56
|
UTSW |
6 |
38,386,411 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1972:Ift56
|
UTSW |
6 |
38,387,738 (GRCm39) |
missense |
probably benign |
0.20 |
R2903:Ift56
|
UTSW |
6 |
38,378,037 (GRCm39) |
missense |
possibly damaging |
0.61 |
R2904:Ift56
|
UTSW |
6 |
38,378,037 (GRCm39) |
missense |
possibly damaging |
0.61 |
R2905:Ift56
|
UTSW |
6 |
38,378,037 (GRCm39) |
missense |
possibly damaging |
0.61 |
R3788:Ift56
|
UTSW |
6 |
38,380,459 (GRCm39) |
critical splice donor site |
probably null |
|
R4222:Ift56
|
UTSW |
6 |
38,372,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R4392:Ift56
|
UTSW |
6 |
38,358,492 (GRCm39) |
start gained |
probably benign |
|
R4930:Ift56
|
UTSW |
6 |
38,368,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R5484:Ift56
|
UTSW |
6 |
38,366,057 (GRCm39) |
missense |
probably benign |
0.10 |
R6229:Ift56
|
UTSW |
6 |
38,371,975 (GRCm39) |
missense |
probably benign |
0.22 |
R6429:Ift56
|
UTSW |
6 |
38,375,248 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6901:Ift56
|
UTSW |
6 |
38,378,079 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7448:Ift56
|
UTSW |
6 |
38,381,422 (GRCm39) |
nonsense |
probably null |
|
R7554:Ift56
|
UTSW |
6 |
38,362,435 (GRCm39) |
missense |
probably null |
1.00 |
R7650:Ift56
|
UTSW |
6 |
38,371,975 (GRCm39) |
missense |
probably benign |
0.22 |
R8319:Ift56
|
UTSW |
6 |
38,382,880 (GRCm39) |
missense |
probably damaging |
0.98 |
R9270:Ift56
|
UTSW |
6 |
38,366,109 (GRCm39) |
intron |
probably benign |
|
R9417:Ift56
|
UTSW |
6 |
38,386,386 (GRCm39) |
missense |
probably damaging |
1.00 |
X0066:Ift56
|
UTSW |
6 |
38,382,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AACTTCTGAATGCCGCCCTC -3'
(R):5'- CACAGGGCAGCTCTTACTGAAG -3'
Sequencing Primer
(F):5'- CATTATCAACCTGGAGAGTTGGCTC -3'
(R):5'- TCTTACTGAAGAGCATAAACAACCC -3'
|
Posted On |
2017-02-28 |