Incidental Mutation 'IGL02728:Hfm1'
| ID |
305314 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hfm1
|
| Ensembl Gene |
ENSMUSG00000043410 |
| Gene Name |
HFM1, ATP-dependent DNA helicase homolog |
| Synonyms |
LOC381663, A330009G12Rik, Mer3, Sec63d1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
IGL02728
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
106840192-106926321 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106878823 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 885
(N885I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112690]
[ENSMUST00000117588]
[ENSMUST00000148495]
|
| AlphaFold |
D3Z4R1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112690
AA Change: N885I
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: N885I
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
276 |
490 |
3.66e-29 |
SMART |
|
HELICc
|
571 |
657 |
1.56e-14 |
SMART |
|
low complexity region
|
751 |
764 |
N/A |
INTRINSIC |
|
Sec63
|
775 |
1090 |
5.66e-60 |
SMART |
|
Blast:Sec63
|
1130 |
1188 |
2e-18 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117588
AA Change: N885I
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: N885I
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
276 |
490 |
3.66e-29 |
SMART |
|
HELICc
|
571 |
657 |
1.56e-14 |
SMART |
|
low complexity region
|
751 |
764 |
N/A |
INTRINSIC |
|
Sec63
|
775 |
1090 |
5.66e-60 |
SMART |
|
Blast:Sec63
|
1130 |
1188 |
2e-18 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148495
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000155171
AA Change: N142I
|
| SMART Domains |
Protein: ENSMUSP00000118674
Gene: ENSMUSG00000043410
AA Change: N142I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
22 |
N/A |
INTRINSIC |
|
Sec63
|
33 |
304 |
3.04e-42 |
SMART |
|
Blast:Sec63
|
344 |
402 |
7e-19 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183903
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be an ATP-dependent DNA helicase and is expressed mainly in germ-line cells. Defects in this gene are a cause of premature ovarian failure 9 (POF9). [provided by RefSeq, Apr 2014]
PHENOTYPE: Meiosis ais disrupted in homozygotes and bothe sexes are sterile [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
G |
T |
9: 90,191,827 |
|
probably benign |
Het |
| Als2 |
A |
G |
1: 59,196,347 |
V726A |
probably benign |
Het |
| Apba1 |
G |
A |
19: 23,944,905 |
G779E |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,936,475 |
V2167E |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,826,503 |
K566E |
probably damaging |
Het |
| Btd |
T |
C |
14: 31,667,362 |
F347L |
probably benign |
Het |
| Btg2 |
T |
C |
1: 134,078,905 |
|
probably benign |
Het |
| Cblb |
T |
A |
16: 52,183,309 |
S717T |
probably benign |
Het |
| Cep250 |
T |
A |
2: 155,983,278 |
|
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,953,222 |
N312S |
probably benign |
Het |
| Clasp1 |
A |
T |
1: 118,602,377 |
T1490S |
probably damaging |
Het |
| Col7a1 |
T |
A |
9: 108,984,104 |
C2906S |
probably benign |
Het |
| Csmd1 |
C |
T |
8: 15,999,779 |
|
probably null |
Het |
| Cspg4 |
T |
A |
9: 56,886,481 |
V500E |
probably damaging |
Het |
| Cyp7b1 |
T |
A |
3: 18,072,575 |
D469V |
probably damaging |
Het |
| Dhh |
A |
T |
15: 98,894,311 |
|
probably null |
Het |
| Dhrs3 |
A |
G |
4: 144,920,072 |
R231G |
probably damaging |
Het |
| Disp3 |
A |
G |
4: 148,272,038 |
S122P |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,283,998 |
I2275V |
probably benign |
Het |
| Dock8 |
A |
C |
19: 25,132,220 |
N922T |
probably benign |
Het |
| Eef1d |
A |
G |
15: 75,903,096 |
L154P |
probably damaging |
Het |
| Eif4ebp1 |
C |
A |
8: 27,273,482 |
P101Q |
possibly damaging |
Het |
| Eif4g1 |
T |
G |
16: 20,686,752 |
|
probably benign |
Het |
| Emb |
A |
G |
13: 117,232,765 |
M50V |
probably benign |
Het |
| Eml4 |
T |
C |
17: 83,473,139 |
|
probably null |
Het |
| Fkbp10 |
G |
T |
11: 100,415,977 |
R65L |
probably damaging |
Het |
| Gm10436 |
G |
T |
12: 88,176,022 |
H275Q |
probably benign |
Het |
| Gm5878 |
T |
C |
6: 85,118,592 |
N83S |
probably benign |
Het |
| Gm8165 |
C |
T |
14: 43,676,237 |
A57T |
unknown |
Het |
| Gpr179 |
A |
G |
11: 97,337,900 |
V1143A |
probably damaging |
Het |
| Hat1 |
T |
C |
2: 71,421,260 |
Y218H |
probably damaging |
Het |
| Inha |
T |
C |
1: 75,509,447 |
S129P |
probably damaging |
Het |
| Ints9 |
T |
C |
14: 64,993,008 |
I128T |
probably damaging |
Het |
| Klra9 |
T |
C |
6: 130,191,186 |
|
probably null |
Het |
| Lrba |
A |
G |
3: 86,776,049 |
E2726G |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,801,398 |
N3356D |
probably benign |
Het |
| Map3k5 |
A |
G |
10: 20,118,292 |
D1008G |
possibly damaging |
Het |
| Med4 |
T |
A |
14: 73,517,975 |
L241Q |
possibly damaging |
Het |
| Mtch1 |
A |
G |
17: 29,338,742 |
V254A |
possibly damaging |
Het |
| Napg |
C |
T |
18: 62,994,304 |
|
probably benign |
Het |
| Olfr173 |
C |
T |
16: 58,797,480 |
R122H |
probably benign |
Het |
| Olfr339 |
T |
C |
2: 36,422,144 |
S249P |
possibly damaging |
Het |
| Olfr823 |
T |
A |
10: 130,112,618 |
R57S |
probably damaging |
Het |
| Olfr853 |
A |
G |
9: 19,537,846 |
F28S |
possibly damaging |
Het |
| Olfr924 |
T |
C |
9: 38,848,926 |
S271P |
probably damaging |
Het |
| Pias1 |
G |
T |
9: 62,923,645 |
N160K |
possibly damaging |
Het |
| Pias1 |
T |
A |
9: 62,923,644 |
S161C |
probably damaging |
Het |
| Pigp |
G |
A |
16: 94,367,607 |
P37S |
probably damaging |
Het |
| Pik3c2b |
T |
A |
1: 133,092,327 |
V1070E |
probably benign |
Het |
| Prepl |
T |
C |
17: 85,070,582 |
T457A |
probably damaging |
Het |
| Psg23 |
G |
A |
7: 18,606,928 |
A467V |
probably benign |
Het |
| Rad54l |
T |
C |
4: 116,122,949 |
R13G |
probably benign |
Het |
| Rassf5 |
T |
C |
1: 131,180,599 |
D248G |
probably damaging |
Het |
| Rspo1 |
A |
G |
4: 125,005,162 |
N92S |
probably damaging |
Het |
| Scube1 |
G |
A |
15: 83,659,016 |
|
probably benign |
Het |
| Sec31b |
C |
A |
19: 44,523,115 |
V616F |
probably damaging |
Het |
| Sema3a |
T |
C |
5: 13,565,914 |
V435A |
probably damaging |
Het |
| Slc7a10 |
T |
A |
7: 35,197,698 |
I208N |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,856,556 |
M2151K |
possibly damaging |
Het |
| Tacc1 |
T |
C |
8: 25,175,219 |
D50G |
probably damaging |
Het |
| Tas2r121 |
G |
T |
6: 132,700,517 |
T164N |
probably damaging |
Het |
| Tatdn2 |
T |
C |
6: 113,704,715 |
W570R |
probably damaging |
Het |
| Telo2 |
A |
T |
17: 25,104,654 |
F600I |
probably damaging |
Het |
| Trim36 |
T |
A |
18: 46,172,602 |
H426L |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,809,652 |
N531Y |
possibly damaging |
Het |
| Ttc30a1 |
T |
A |
2: 75,980,849 |
M297L |
probably benign |
Het |
| Ttc39a |
T |
C |
4: 109,442,723 |
C470R |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,784,939 |
E8485K |
probably damaging |
Het |
| Ubr4 |
A |
T |
4: 139,468,811 |
I1253F |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 103,122,429 |
H1724L |
possibly damaging |
Het |
| Vmn1r40 |
T |
A |
6: 89,715,016 |
C89S |
probably benign |
Het |
| Wdr55 |
A |
G |
18: 36,763,382 |
E375G |
probably benign |
Het |
|
| Other mutations in Hfm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00944:Hfm1
|
APN |
5 |
106,902,130 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL01295:Hfm1
|
APN |
5 |
106,917,606 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL01725:Hfm1
|
APN |
5 |
106,917,379 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01758:Hfm1
|
APN |
5 |
106,904,793 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01911:Hfm1
|
APN |
5 |
106,911,544 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02337:Hfm1
|
APN |
5 |
106,904,267 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL02472:Hfm1
|
APN |
5 |
106,873,928 (GRCm38) |
splice site |
probably benign |
|
|
IGL02496:Hfm1
|
APN |
5 |
106,901,761 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02545:Hfm1
|
APN |
5 |
106,895,287 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02584:Hfm1
|
APN |
5 |
106,878,662 (GRCm38) |
splice site |
probably null |
|
|
IGL02881:Hfm1
|
APN |
5 |
106,874,252 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03108:Hfm1
|
APN |
5 |
106,895,934 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03351:Hfm1
|
APN |
5 |
106,911,575 (GRCm38) |
nonsense |
probably null |
|
|
IGL03353:Hfm1
|
APN |
5 |
106,856,929 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0024:Hfm1
|
UTSW |
5 |
106,856,924 (GRCm38) |
missense |
probably benign |
0.41 |
|
R0024:Hfm1
|
UTSW |
5 |
106,856,924 (GRCm38) |
missense |
probably benign |
0.41 |
|
R0094:Hfm1
|
UTSW |
5 |
106,917,478 (GRCm38) |
missense |
probably benign |
|
|
R0633:Hfm1
|
UTSW |
5 |
106,917,601 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R0644:Hfm1
|
UTSW |
5 |
106,898,256 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1078:Hfm1
|
UTSW |
5 |
106,878,830 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1120:Hfm1
|
UTSW |
5 |
106,904,218 (GRCm38) |
splice site |
probably benign |
|
|
R1166:Hfm1
|
UTSW |
5 |
106,911,411 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1242:Hfm1
|
UTSW |
5 |
106,874,901 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1414:Hfm1
|
UTSW |
5 |
106,872,353 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1450:Hfm1
|
UTSW |
5 |
106,918,458 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1529:Hfm1
|
UTSW |
5 |
106,853,123 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1622:Hfm1
|
UTSW |
5 |
106,893,523 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R1710:Hfm1
|
UTSW |
5 |
106,896,003 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1710:Hfm1
|
UTSW |
5 |
106,880,514 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1757:Hfm1
|
UTSW |
5 |
106,880,360 (GRCm38) |
splice site |
probably null |
|
|
R1856:Hfm1
|
UTSW |
5 |
106,847,676 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1984:Hfm1
|
UTSW |
5 |
106,898,576 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1985:Hfm1
|
UTSW |
5 |
106,898,576 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2040:Hfm1
|
UTSW |
5 |
106,901,818 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2122:Hfm1
|
UTSW |
5 |
106,896,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2426:Hfm1
|
UTSW |
5 |
106,847,653 (GRCm38) |
splice site |
probably null |
|
|
R2474:Hfm1
|
UTSW |
5 |
106,872,416 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R2926:Hfm1
|
UTSW |
5 |
106,874,282 (GRCm38) |
nonsense |
probably null |
|
|
R2944:Hfm1
|
UTSW |
5 |
106,872,330 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3705:Hfm1
|
UTSW |
5 |
106,892,839 (GRCm38) |
unclassified |
probably benign |
|
|
R4256:Hfm1
|
UTSW |
5 |
106,904,797 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4455:Hfm1
|
UTSW |
5 |
106,886,508 (GRCm38) |
splice site |
probably null |
|
|
R4538:Hfm1
|
UTSW |
5 |
106,874,890 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R4540:Hfm1
|
UTSW |
5 |
106,874,221 (GRCm38) |
nonsense |
probably null |
|
|
R4591:Hfm1
|
UTSW |
5 |
106,847,667 (GRCm38) |
missense |
probably benign |
0.08 |
|
R4745:Hfm1
|
UTSW |
5 |
106,901,843 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4747:Hfm1
|
UTSW |
5 |
106,917,523 (GRCm38) |
missense |
probably benign |
|
|
R4765:Hfm1
|
UTSW |
5 |
106,842,539 (GRCm38) |
missense |
probably benign |
0.21 |
|
R4821:Hfm1
|
UTSW |
5 |
106,854,740 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4842:Hfm1
|
UTSW |
5 |
106,892,751 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4944:Hfm1
|
UTSW |
5 |
106,874,213 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R5093:Hfm1
|
UTSW |
5 |
106,901,731 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5399:Hfm1
|
UTSW |
5 |
106,917,562 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5414:Hfm1
|
UTSW |
5 |
106,902,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5436:Hfm1
|
UTSW |
5 |
106,892,772 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R5459:Hfm1
|
UTSW |
5 |
106,904,763 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5485:Hfm1
|
UTSW |
5 |
106,847,662 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5585:Hfm1
|
UTSW |
5 |
106,911,439 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5631:Hfm1
|
UTSW |
5 |
106,904,763 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5705:Hfm1
|
UTSW |
5 |
106,911,453 (GRCm38) |
missense |
probably benign |
0.21 |
|
R5804:Hfm1
|
UTSW |
5 |
106,878,589 (GRCm38) |
splice site |
probably null |
|
|
R5959:Hfm1
|
UTSW |
5 |
106,874,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6046:Hfm1
|
UTSW |
5 |
106,898,643 (GRCm38) |
splice site |
probably null |
|
|
R6191:Hfm1
|
UTSW |
5 |
106,886,553 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6345:Hfm1
|
UTSW |
5 |
106,841,638 (GRCm38) |
missense |
probably benign |
|
|
R6580:Hfm1
|
UTSW |
5 |
106,847,709 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6651:Hfm1
|
UTSW |
5 |
106,847,687 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6761:Hfm1
|
UTSW |
5 |
106,895,279 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6835:Hfm1
|
UTSW |
5 |
106,878,815 (GRCm38) |
nonsense |
probably null |
|
|
R6891:Hfm1
|
UTSW |
5 |
106,917,374 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R6924:Hfm1
|
UTSW |
5 |
106,850,410 (GRCm38) |
splice site |
probably null |
|
|
R6980:Hfm1
|
UTSW |
5 |
106,880,477 (GRCm38) |
missense |
probably benign |
0.31 |
|
R7054:Hfm1
|
UTSW |
5 |
106,896,043 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7058:Hfm1
|
UTSW |
5 |
106,911,440 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7189:Hfm1
|
UTSW |
5 |
106,901,703 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7250:Hfm1
|
UTSW |
5 |
106,904,331 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7376:Hfm1
|
UTSW |
5 |
106,895,218 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7577:Hfm1
|
UTSW |
5 |
106,896,043 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7636:Hfm1
|
UTSW |
5 |
106,917,466 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7639:Hfm1
|
UTSW |
5 |
106,898,475 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R7639:Hfm1
|
UTSW |
5 |
106,889,925 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7763:Hfm1
|
UTSW |
5 |
106,881,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7828:Hfm1
|
UTSW |
5 |
106,881,791 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7905:Hfm1
|
UTSW |
5 |
106,898,553 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8160:Hfm1
|
UTSW |
5 |
106,896,033 (GRCm38) |
missense |
probably null |
0.00 |
|
R8477:Hfm1
|
UTSW |
5 |
106,881,818 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8739:Hfm1
|
UTSW |
5 |
106,898,505 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8968:Hfm1
|
UTSW |
5 |
106,917,573 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9072:Hfm1
|
UTSW |
5 |
106,898,280 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9073:Hfm1
|
UTSW |
5 |
106,898,280 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9152:Hfm1
|
UTSW |
5 |
106,841,745 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9234:Hfm1
|
UTSW |
5 |
106,893,468 (GRCm38) |
missense |
probably benign |
|
|
R9244:Hfm1
|
UTSW |
5 |
106,874,900 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9576:Hfm1
|
UTSW |
5 |
106,874,072 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9649:Hfm1
|
UTSW |
5 |
106,918,463 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9743:Hfm1
|
UTSW |
5 |
106,874,259 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R9782:Hfm1
|
UTSW |
5 |
106,874,030 (GRCm38) |
missense |
probably benign |
0.38 |
|
R9789:Hfm1
|
UTSW |
5 |
106,917,480 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Hfm1
|
UTSW |
5 |
106,871,820 (GRCm38) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation