Incidental Mutation 'IGL00671:Dnaaf6rt'
| ID |
13688 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dnaaf6rt
|
| Ensembl Gene |
ENSMUSG00000026063 |
| Gene Name |
dynein axonemal assembly factor 6, retrotransposed |
| Synonyms |
4930521A18Rik, Pih1d3, Dnaaf6 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00671
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
31261920-31263368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 31262053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 12
(V12I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027230]
[ENSMUST00000127775]
[ENSMUST00000135245]
[ENSMUST00000187659]
|
| AlphaFold |
Q3KNI6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027230
AA Change: V12I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000127665
Gene: ENSMUSG00000026063
AA Change: V12I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
Pfam:PIH1
|
70 |
209 |
2.1e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127775
|
| SMART Domains |
Protein: ENSMUSP00000120381
Gene: ENSMUSG00000086727
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
68 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135245
|
| SMART Domains |
Protein: ENSMUSP00000120289
Gene: ENSMUSG00000086727
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
68 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187659
|
| SMART Domains |
Protein: ENSMUSP00000139710
Gene: ENSMUSG00000086727
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
68 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187892
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele develop normally but display male infertility associated with asthenozoospermia and abnormal sperm flagellum morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,980,745 (GRCm39) |
R576* |
probably null |
Het |
| Astl |
T |
C |
2: 127,185,941 (GRCm39) |
|
probably null |
Het |
| Atp6v1h |
T |
C |
1: 5,194,694 (GRCm39) |
|
probably null |
Het |
| Avpr1a |
A |
T |
10: 122,285,256 (GRCm39) |
I183L |
probably benign |
Het |
| Cep83 |
A |
G |
10: 94,625,626 (GRCm39) |
T679A |
possibly damaging |
Het |
| Dennd1b |
A |
T |
1: 139,061,475 (GRCm39) |
I386F |
possibly damaging |
Het |
| Ect2 |
T |
C |
3: 27,192,818 (GRCm39) |
N344S |
probably benign |
Het |
| Ghrh |
G |
A |
2: 157,175,389 (GRCm39) |
H31Y |
probably benign |
Het |
| Gpc6 |
A |
T |
14: 117,424,199 (GRCm39) |
T96S |
probably benign |
Het |
| Man2b1 |
A |
C |
8: 85,820,567 (GRCm39) |
D618A |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,084,183 (GRCm39) |
E1602G |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,411,067 (GRCm39) |
I175N |
probably damaging |
Het |
| Oga |
C |
A |
19: 45,753,979 (GRCm39) |
A632S |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,543,097 (GRCm39) |
|
probably null |
Het |
| Otop2 |
A |
G |
11: 115,222,735 (GRCm39) |
N539S |
probably damaging |
Het |
| Ralbp1 |
T |
A |
17: 66,171,607 (GRCm39) |
E122V |
possibly damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,723,940 (GRCm39) |
S413R |
possibly damaging |
Het |
| Tcf12 |
T |
A |
9: 71,775,400 (GRCm39) |
N450I |
probably damaging |
Het |
| Tle3 |
T |
A |
9: 61,319,652 (GRCm39) |
N492K |
probably damaging |
Het |
| Ttll8 |
T |
C |
15: 88,798,356 (GRCm39) |
D793G |
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,280,211 (GRCm39) |
T756A |
possibly damaging |
Het |
| Zfand1 |
T |
C |
3: 10,411,084 (GRCm39) |
H96R |
probably damaging |
Het |
| Zfp617 |
C |
T |
8: 72,686,386 (GRCm39) |
R239* |
probably null |
Het |
| Zmpste24 |
A |
G |
4: 120,940,012 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dnaaf6rt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01469:Dnaaf6rt
|
APN |
1 |
31,262,510 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01629:Dnaaf6rt
|
APN |
1 |
31,262,014 (GRCm39) |
splice site |
probably null |
|
|
IGL02545:Dnaaf6rt
|
APN |
1 |
31,262,177 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1263:Dnaaf6rt
|
UTSW |
1 |
31,262,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1477:Dnaaf6rt
|
UTSW |
1 |
31,262,104 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2073:Dnaaf6rt
|
UTSW |
1 |
31,262,077 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4459:Dnaaf6rt
|
UTSW |
1 |
31,262,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5289:Dnaaf6rt
|
UTSW |
1 |
31,262,608 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5303:Dnaaf6rt
|
UTSW |
1 |
31,262,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6216:Dnaaf6rt
|
UTSW |
1 |
31,262,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6994:Dnaaf6rt
|
UTSW |
1 |
31,261,990 (GRCm39) |
unclassified |
probably benign |
|
|
R7372:Dnaaf6rt
|
UTSW |
1 |
31,262,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8127:Dnaaf6rt
|
UTSW |
1 |
31,262,201 (GRCm39) |
missense |
probably benign |
|
|
R8415:Dnaaf6rt
|
UTSW |
1 |
31,262,564 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8439:Dnaaf6rt
|
UTSW |
1 |
31,262,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9675:Dnaaf6rt
|
UTSW |
1 |
31,262,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9706:Dnaaf6rt
|
UTSW |
1 |
31,262,252 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
| Posted On |
2012-12-06 |
Incidental Mutation