Incidental Mutation 'R2927:Ift22'
| ID |
255794 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift22
|
| Ensembl Gene |
ENSMUSG00000007987 |
| Gene Name |
intraflagellar transport 22 |
| Synonyms |
Rabl5, 3110017O03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2927 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
136937004-136943363 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136941799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 147
(D147G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000199101]
[ENSMUST00000200153]
[ENSMUST00000200157]
|
| AlphaFold |
Q9DAI2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008131
|
| SMART Domains |
Protein: ENSMUSP00000008131
Gene: ENSMUSG00000007987
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
2 |
129 |
6.2e-10 |
PFAM |
|
Pfam:SRPRB
|
2 |
182 |
9.9e-8 |
PFAM |
|
Pfam:Ras
|
5 |
125 |
2.1e-13 |
PFAM |
|
Pfam:Roc
|
5 |
125 |
3.2e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199101
AA Change: D147G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143017
Gene: ENSMUSG00000007987
AA Change: D147G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1f6ba_
|
5 |
91 |
2e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200054
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200153
|
| SMART Domains |
Protein: ENSMUSP00000142389
Gene: ENSMUSG00000007987
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
2 |
133 |
1.1e-8 |
PFAM |
|
Pfam:SRPRB
|
2 |
133 |
1.5e-5 |
PFAM |
|
Pfam:Miro
|
5 |
122 |
7.9e-7 |
PFAM |
|
Pfam:Ras
|
5 |
125 |
3.1e-12 |
PFAM |
|
low complexity region
|
148 |
163 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200157
AA Change: D177G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143488
Gene: ENSMUSG00000007987
AA Change: D177G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
2 |
129 |
6.4e-10 |
PFAM |
|
Pfam:SRPRB
|
2 |
181 |
1e-7 |
PFAM |
|
Pfam:Miro
|
5 |
122 |
5.1e-8 |
PFAM |
|
Pfam:Ras
|
5 |
125 |
1.9e-13 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Dsc2 |
T |
C |
18: 20,178,558 (GRCm39) |
Y282C |
probably damaging |
Het |
| Dsg1b |
C |
A |
18: 20,538,308 (GRCm39) |
P638Q |
probably benign |
Het |
| Eea1 |
C |
T |
10: 95,849,220 (GRCm39) |
S486L |
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,236,848 (GRCm39) |
Q1111L |
probably benign |
Het |
| Ikzf1 |
T |
C |
11: 11,719,324 (GRCm39) |
Y344H |
probably damaging |
Het |
| Kif1c |
T |
A |
11: 70,617,140 (GRCm39) |
C813S |
probably benign |
Het |
| Krt16 |
A |
G |
11: 100,139,625 (GRCm39) |
L31P |
unknown |
Het |
| Lrrc49 |
G |
A |
9: 60,501,029 (GRCm39) |
R633* |
probably null |
Het |
| Mllt6 |
T |
A |
11: 97,571,602 (GRCm39) |
F1080I |
probably damaging |
Het |
| Or52ae7 |
A |
G |
7: 103,120,089 (GRCm39) |
Y281C |
probably damaging |
Het |
| Plxnc1 |
T |
G |
10: 94,629,154 (GRCm39) |
|
probably null |
Het |
| Ppp4r2 |
T |
C |
6: 100,838,426 (GRCm39) |
Y115H |
probably damaging |
Het |
| Pramel1 |
T |
A |
4: 143,125,388 (GRCm39) |
D437E |
probably benign |
Het |
| Pstpip2 |
C |
A |
18: 77,949,589 (GRCm39) |
Q133K |
probably damaging |
Het |
| Ptgs2 |
A |
T |
1: 149,977,011 (GRCm39) |
T41S |
possibly damaging |
Het |
| Slc36a1 |
G |
A |
11: 55,123,201 (GRCm39) |
A389T |
probably damaging |
Het |
| Vav2 |
A |
G |
2: 27,316,403 (GRCm39) |
V30A |
probably damaging |
Het |
| Vmn1r119 |
C |
T |
7: 20,746,056 (GRCm39) |
V109I |
probably benign |
Het |
|
| Other mutations in Ift22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02153:Ift22
|
APN |
5 |
136,940,550 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02755:Ift22
|
APN |
5 |
136,940,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0167:Ift22
|
UTSW |
5 |
136,940,745 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0556:Ift22
|
UTSW |
5 |
136,940,145 (GRCm39) |
splice site |
probably null |
|
|
R1378:Ift22
|
UTSW |
5 |
136,941,757 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4058:Ift22
|
UTSW |
5 |
136,940,717 (GRCm39) |
missense |
unknown |
|
|
R4562:Ift22
|
UTSW |
5 |
136,941,724 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4650:Ift22
|
UTSW |
5 |
136,940,655 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4957:Ift22
|
UTSW |
5 |
136,937,070 (GRCm39) |
start gained |
probably benign |
|
|
R6057:Ift22
|
UTSW |
5 |
136,939,987 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7910:Ift22
|
UTSW |
5 |
136,940,638 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8905:Ift22
|
UTSW |
5 |
136,941,745 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTCATCCTTCACAAGCTAG -3'
(R):5'- TGCATGACAACTGAGACAGGC -3'
Sequencing Primer
(F):5'- CAAGCTAGAAAGTGTTCCTTGTCCAC -3'
(R):5'- GAGATAAGCGCTCCTATGCAGC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation