Incidental Mutation 'R4459:Dnaaf6rt'
| ID |
330043 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnaaf6rt
|
| Ensembl Gene |
ENSMUSG00000026063 |
| Gene Name |
dynein axonemal assembly factor 6, retrotransposed |
| Synonyms |
4930521A18Rik, Pih1d3, Dnaaf6 |
| MMRRC Submission |
041579-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4459 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
31261920-31263368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31262405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 129
(D129G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027230]
[ENSMUST00000127775]
[ENSMUST00000135245]
[ENSMUST00000187659]
|
| AlphaFold |
Q3KNI6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027230
AA Change: D129G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127665
Gene: ENSMUSG00000026063
AA Change: D129G
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
C |
T |
14: 118,836,805 (GRCm39) |
R652Q |
probably benign |
Het |
| Anks1b |
G |
A |
10: 90,346,706 (GRCm39) |
V669I |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Ash1l |
G |
A |
3: 88,873,541 (GRCm39) |
R108Q |
probably damaging |
Het |
| BC049715 |
G |
A |
6: 136,817,050 (GRCm39) |
A97T |
probably damaging |
Het |
| Cyp11b1 |
T |
A |
15: 74,708,208 (GRCm39) |
E422D |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 50,094,283 (GRCm39) |
I2920F |
possibly damaging |
Het |
| Efcab6 |
C |
T |
15: 83,788,490 (GRCm39) |
G935S |
probably damaging |
Het |
| Esp3 |
C |
G |
17: 40,944,478 (GRCm39) |
T40S |
probably null |
Het |
| Gc |
T |
C |
5: 89,589,146 (GRCm39) |
M206V |
probably benign |
Het |
| Gm15446 |
A |
T |
5: 110,091,107 (GRCm39) |
H453L |
probably benign |
Het |
| Hes6 |
A |
G |
1: 91,340,061 (GRCm39) |
S132P |
probably damaging |
Het |
| Ighg2b |
T |
C |
12: 113,270,578 (GRCm39) |
Y184C |
unknown |
Het |
| Itga2 |
C |
G |
13: 114,980,019 (GRCm39) |
D1061H |
probably damaging |
Het |
| Kcnj5 |
A |
G |
9: 32,233,691 (GRCm39) |
I208T |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,904,194 (GRCm39) |
Y538C |
probably damaging |
Het |
| Letm2 |
A |
G |
8: 26,076,715 (GRCm39) |
C296R |
probably damaging |
Het |
| Lrfn4 |
C |
T |
19: 4,662,662 (GRCm39) |
V452I |
probably benign |
Het |
| Mypn |
A |
G |
10: 63,028,211 (GRCm39) |
V284A |
probably damaging |
Het |
| Or14j9 |
G |
A |
17: 37,874,365 (GRCm39) |
T279I |
probably damaging |
Het |
| Or2y1e |
A |
T |
11: 49,218,703 (GRCm39) |
N155I |
probably damaging |
Het |
| Or5aq1 |
T |
C |
2: 86,966,005 (GRCm39) |
H220R |
probably benign |
Het |
| Or8c20 |
T |
A |
9: 38,261,288 (GRCm39) |
V297D |
probably damaging |
Het |
| Pcdhgb6 |
C |
T |
18: 37,875,759 (GRCm39) |
P156S |
probably benign |
Het |
| Pou2f1 |
A |
G |
1: 165,722,575 (GRCm39) |
F337L |
probably damaging |
Het |
| Prl7a2 |
A |
G |
13: 27,849,979 (GRCm39) |
V31A |
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,003,402 (GRCm39) |
F419S |
possibly damaging |
Het |
| Rmnd5a |
C |
T |
6: 71,373,865 (GRCm39) |
G310R |
probably damaging |
Het |
| Rrm2b |
T |
A |
15: 37,945,397 (GRCm39) |
|
probably null |
Het |
| Smg8 |
T |
C |
11: 86,976,396 (GRCm39) |
D395G |
probably benign |
Het |
| Snx30 |
A |
T |
4: 59,885,022 (GRCm39) |
R221* |
probably null |
Het |
| Tyk2 |
T |
C |
9: 21,035,711 (GRCm39) |
E157G |
probably damaging |
Het |
| Wdr90 |
T |
A |
17: 26,079,976 (GRCm39) |
T120S |
possibly damaging |
Het |
| Zfp747l1 |
A |
G |
7: 126,983,917 (GRCm39) |
L395P |
probably damaging |
Het |
| Zfp804b |
A |
T |
5: 6,821,481 (GRCm39) |
D491E |
probably damaging |
Het |
|
| Other mutations in Dnaaf6rt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00671:Dnaaf6rt
|
APN |
1 |
31,262,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAACAGGGGCAATGCTC -3'
(R):5'- ACGGGCTGGGGAAAGTTTAC -3'
Sequencing Primer
(F):5'- CAGGGGCAATGCTCATTTAC -3'
(R):5'- GCTGGGGAAAGTTTACTAACAGCTTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation