Incidental Mutation 'R4411:Ift88'
| ID |
327935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift88
|
| Ensembl Gene |
ENSMUSG00000040040 |
| Gene Name |
intraflagellar transport 88 |
| Synonyms |
Oak Ridge polycystic kidneys, IFT88, Ttc10, Tg737, Tg737Rpw, fxo, polaris, orpk, TgN737Rpw |
| MMRRC Submission |
041693-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4411 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
57661519-57755393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57715436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 493
(N493S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113768
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122063]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122063
AA Change: N493S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113768
Gene: ENSMUSG00000040040
AA Change: N493S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TPR
|
197 |
229 |
8e-12 |
BLAST |
|
TPR
|
233 |
266 |
5.35e-5 |
SMART |
|
TPR
|
272 |
305 |
5.78e-1 |
SMART |
|
TPR
|
485 |
518 |
5.73e-5 |
SMART |
|
TPR
|
519 |
552 |
9.83e-4 |
SMART |
|
TPR
|
553 |
586 |
5.19e-3 |
SMART |
|
TPR
|
587 |
620 |
3.87e-2 |
SMART |
|
Blast:TPR
|
621 |
654 |
7e-12 |
BLAST |
|
TPR
|
655 |
688 |
3.76e0 |
SMART |
|
low complexity region
|
730 |
748 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139943
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154492
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171682
|
| SMART Domains |
Protein: ENSMUSP00000130475
Gene: ENSMUSG00000040040
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3808
|
1 |
164 |
2.7e-8 |
PFAM |
|
Pfam:TPR_11
|
3 |
76 |
8.7e-11 |
PFAM |
|
Pfam:TPR_12
|
3 |
77 |
3.8e-11 |
PFAM |
|
Pfam:TPR_8
|
6 |
37 |
7e-4 |
PFAM |
|
Pfam:TPR_2
|
7 |
38 |
1.8e-6 |
PFAM |
|
Pfam:TPR_1
|
7 |
39 |
3.4e-9 |
PFAM |
|
Pfam:TPR_7
|
8 |
41 |
1.9e-7 |
PFAM |
|
Pfam:TPR_8
|
45 |
78 |
2.2e-3 |
PFAM |
|
| Meta Mutation Damage Score |
0.0997 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
95% (62/65) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tetratrico peptide repeat (TPR) family. Mutations of a similar gene in mouse can cause polycystic kidney disease. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display early to mid-gestation lethality, random patterning of the left-right body axis, neural tube defects, pericardial sac expansion, enlarged limb buds, polydactyly, and absent embryonic node cilia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,042,781 (GRCm39) |
I423V |
probably benign |
Het |
| Abl2 |
T |
C |
1: 156,457,652 (GRCm39) |
V306A |
possibly damaging |
Het |
| Adcy4 |
T |
C |
14: 56,006,900 (GRCm39) |
Y1006C |
probably damaging |
Het |
| Adprhl1 |
T |
C |
8: 13,296,114 (GRCm39) |
K144E |
probably benign |
Het |
| Arid5b |
T |
C |
10: 67,932,519 (GRCm39) |
R885G |
probably damaging |
Het |
| Atp9a |
A |
T |
2: 168,503,853 (GRCm39) |
V613E |
probably damaging |
Het |
| Atxn7l1 |
G |
T |
12: 33,244,886 (GRCm39) |
|
probably benign |
Het |
| Brd8 |
C |
A |
18: 34,756,497 (GRCm39) |
|
probably benign |
Het |
| Bsnd |
C |
T |
4: 106,343,868 (GRCm39) |
R146H |
probably benign |
Het |
| C4b |
C |
T |
17: 34,947,838 (GRCm39) |
R1659H |
probably damaging |
Het |
| Duox1 |
G |
A |
2: 122,168,115 (GRCm39) |
R1080H |
probably benign |
Het |
| Eml2 |
T |
C |
7: 18,916,326 (GRCm39) |
|
probably null |
Het |
| Fbxo44 |
G |
A |
4: 148,238,065 (GRCm39) |
R221C |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,881,481 (GRCm39) |
D166G |
probably damaging |
Het |
| Galnt5 |
T |
C |
2: 57,889,207 (GRCm39) |
L269P |
probably benign |
Het |
| Gigyf2 |
A |
G |
1: 87,364,582 (GRCm39) |
E954G |
probably damaging |
Het |
| Gpc6 |
T |
C |
14: 118,188,590 (GRCm39) |
V408A |
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,289,535 (GRCm39) |
T3832A |
probably benign |
Het |
| Ighv1-76 |
A |
T |
12: 115,811,731 (GRCm39) |
C41S |
probably damaging |
Het |
| Igkv12-46 |
G |
A |
6: 69,741,930 (GRCm39) |
T16I |
probably benign |
Het |
| Igkv3-9 |
G |
T |
6: 70,565,547 (GRCm39) |
V49F |
probably damaging |
Het |
| Isoc2b |
A |
T |
7: 4,852,433 (GRCm39) |
|
probably benign |
Het |
| Lcp2 |
T |
A |
11: 34,037,173 (GRCm39) |
|
probably benign |
Het |
| Lmntd1 |
A |
G |
6: 145,373,003 (GRCm39) |
|
probably null |
Het |
| Mdm2 |
A |
T |
10: 117,545,694 (GRCm39) |
|
probably null |
Het |
| Mrgprx3-ps |
T |
C |
7: 46,959,746 (GRCm39) |
|
noncoding transcript |
Het |
| Msh2 |
T |
C |
17: 88,025,032 (GRCm39) |
S637P |
probably damaging |
Het |
| Myo5b |
T |
C |
18: 74,831,345 (GRCm39) |
F765S |
possibly damaging |
Het |
| Nav2 |
T |
A |
7: 49,047,857 (GRCm39) |
N91K |
probably benign |
Het |
| Ndor1 |
G |
A |
2: 25,138,492 (GRCm39) |
P363S |
probably benign |
Het |
| Npr3 |
G |
C |
15: 11,905,235 (GRCm39) |
T164R |
probably benign |
Het |
| Pcdhb5 |
T |
C |
18: 37,455,050 (GRCm39) |
S477P |
possibly damaging |
Het |
| Pde3b |
GTGATGATGATGATGATGATGATGATG |
GTGATGATGATGATGATGATGATG |
7: 114,133,984 (GRCm39) |
|
probably benign |
Het |
| Pnpla7 |
G |
A |
2: 24,941,716 (GRCm39) |
W13* |
probably null |
Het |
| Pnpla8 |
T |
C |
12: 44,330,225 (GRCm39) |
V41A |
probably benign |
Het |
| Prdm2 |
A |
T |
4: 142,860,240 (GRCm39) |
S1017T |
probably benign |
Het |
| Prdm5 |
T |
A |
6: 65,878,771 (GRCm39) |
Y108* |
probably null |
Het |
| Rab34 |
T |
A |
11: 78,079,592 (GRCm39) |
|
probably null |
Het |
| Skic3 |
A |
G |
13: 76,275,623 (GRCm39) |
E410G |
possibly damaging |
Het |
| Smpd5 |
G |
T |
15: 76,179,112 (GRCm39) |
R160L |
possibly damaging |
Het |
| Spmip10 |
A |
G |
18: 56,727,720 (GRCm39) |
T65A |
probably benign |
Het |
| Srrm2 |
A |
G |
17: 24,029,442 (GRCm39) |
|
probably benign |
Het |
| Taf5 |
T |
A |
19: 47,059,453 (GRCm39) |
V199D |
probably damaging |
Het |
| Tas2r114 |
C |
T |
6: 131,666,585 (GRCm39) |
V148I |
probably benign |
Het |
| Tas2r136 |
C |
A |
6: 132,754,972 (GRCm39) |
V52L |
probably damaging |
Het |
| Tnfrsf25 |
G |
A |
4: 152,202,843 (GRCm39) |
|
probably benign |
Het |
| Tpd52l1 |
T |
C |
10: 31,255,315 (GRCm39) |
T11A |
possibly damaging |
Het |
| Trmt1l |
G |
A |
1: 151,327,905 (GRCm39) |
E472K |
probably benign |
Het |
| Ttc17 |
T |
C |
2: 94,173,098 (GRCm39) |
K766E |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,560,633 (GRCm39) |
R29256Q |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,572,414 (GRCm39) |
I26160V |
probably damaging |
Het |
| Ubxn6 |
A |
T |
17: 56,376,303 (GRCm39) |
V311E |
probably damaging |
Het |
| Usp2 |
T |
C |
9: 44,002,360 (GRCm39) |
S351P |
probably damaging |
Het |
| Usp7 |
C |
A |
16: 8,526,778 (GRCm39) |
D187Y |
probably damaging |
Het |
| Vmn1r115 |
C |
T |
7: 20,578,207 (GRCm39) |
R235K |
probably benign |
Het |
| Vmn2r50 |
A |
C |
7: 9,784,235 (GRCm39) |
F80V |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,511,360 (GRCm39) |
K481M |
possibly damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,288,469 (GRCm39) |
I344T |
possibly damaging |
Het |
| Zfp455 |
A |
T |
13: 67,355,389 (GRCm39) |
N219I |
probably damaging |
Het |
|
| Other mutations in Ift88 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00742:Ift88
|
APN |
14 |
57,718,843 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00886:Ift88
|
APN |
14 |
57,715,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00901:Ift88
|
APN |
14 |
57,681,902 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01148:Ift88
|
APN |
14 |
57,677,189 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01346:Ift88
|
APN |
14 |
57,681,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01474:Ift88
|
APN |
14 |
57,715,531 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02213:Ift88
|
APN |
14 |
57,715,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02391:Ift88
|
APN |
14 |
57,718,871 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL03087:Ift88
|
APN |
14 |
57,715,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0392:Ift88
|
UTSW |
14 |
57,733,617 (GRCm39) |
splice site |
probably benign |
|
|
R0608:Ift88
|
UTSW |
14 |
57,733,678 (GRCm39) |
missense |
probably benign |
|
|
R0718:Ift88
|
UTSW |
14 |
57,754,870 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1128:Ift88
|
UTSW |
14 |
57,754,476 (GRCm39) |
nonsense |
probably null |
|
|
R1422:Ift88
|
UTSW |
14 |
57,710,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1422:Ift88
|
UTSW |
14 |
57,675,758 (GRCm39) |
splice site |
probably benign |
|
|
R1432:Ift88
|
UTSW |
14 |
57,674,736 (GRCm39) |
missense |
probably benign |
|
|
R1518:Ift88
|
UTSW |
14 |
57,668,085 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1566:Ift88
|
UTSW |
14 |
57,678,468 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1819:Ift88
|
UTSW |
14 |
57,692,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2239:Ift88
|
UTSW |
14 |
57,692,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2273:Ift88
|
UTSW |
14 |
57,726,393 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2926:Ift88
|
UTSW |
14 |
57,726,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3033:Ift88
|
UTSW |
14 |
57,715,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3052:Ift88
|
UTSW |
14 |
57,668,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3815:Ift88
|
UTSW |
14 |
57,678,438 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4703:Ift88
|
UTSW |
14 |
57,718,307 (GRCm39) |
unclassified |
probably benign |
|
|
R4704:Ift88
|
UTSW |
14 |
57,718,307 (GRCm39) |
unclassified |
probably benign |
|
|
R4822:Ift88
|
UTSW |
14 |
57,679,326 (GRCm39) |
splice site |
probably null |
|
|
R5355:Ift88
|
UTSW |
14 |
57,675,699 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5618:Ift88
|
UTSW |
14 |
57,718,965 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6602:Ift88
|
UTSW |
14 |
57,744,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6907:Ift88
|
UTSW |
14 |
57,683,067 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7241:Ift88
|
UTSW |
14 |
57,717,454 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7243:Ift88
|
UTSW |
14 |
57,667,993 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7736:Ift88
|
UTSW |
14 |
57,683,121 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7766:Ift88
|
UTSW |
14 |
57,685,111 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8526:Ift88
|
UTSW |
14 |
57,683,126 (GRCm39) |
nonsense |
probably null |
|
|
R9018:Ift88
|
UTSW |
14 |
57,675,702 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9289:Ift88
|
UTSW |
14 |
57,718,199 (GRCm39) |
missense |
probably benign |
|
|
R9340:Ift88
|
UTSW |
14 |
57,718,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9369:Ift88
|
UTSW |
14 |
57,685,137 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9399:Ift88
|
UTSW |
14 |
57,717,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9485:Ift88
|
UTSW |
14 |
57,675,724 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9712:Ift88
|
UTSW |
14 |
57,718,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9759:Ift88
|
UTSW |
14 |
57,672,256 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCTTGGCTGTTTGAACTTGAC -3'
(R):5'- CATGGCTTGTGAATTATCAACTCC -3'
Sequencing Primer
(F):5'- CTGTTTGAACTTGACAGCTACAC -3'
(R):5'- GCTTGTGAATTATCAACTCCATTTAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation