Incidental Mutation 'IGL01295:Hfm1'
ID |
73088 |
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: 0.080)
|
Stock # |
IGL01295
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
106988058-107074187 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 107065472 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 69
(M69R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112690]
[ENSMUST00000117588]
[ENSMUST00000148686]
[ENSMUST00000200249]
|
AlphaFold |
D3Z4R1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000112690
AA Change: M69R
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000108310 Gene: ENSMUSG00000043410 AA Change: M69R
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: M69R
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000112590 Gene: ENSMUSG00000043410 AA Change: M69R
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 |
noncoding transcript
Transcript: ENSMUST00000134292
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148686
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200249
AA Change: M69R
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142727 Gene: ENSMUSG00000043410 AA Change: M69R
Domain | Start | End | E-Value | Type |
Pfam:ResIII
|
260 |
410 |
9.9e-7 |
PFAM |
Pfam:DEAD
|
281 |
410 |
1.5e-19 |
PFAM |
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
G |
T |
14: 32,383,893 (GRCm39) |
L691I |
possibly damaging |
Het |
Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
Apol10b |
A |
T |
15: 77,469,796 (GRCm39) |
V127E |
probably damaging |
Het |
Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
Atn1 |
T |
C |
6: 124,726,239 (GRCm39) |
E80G |
probably damaging |
Het |
Carmil2 |
T |
C |
8: 106,422,148 (GRCm39) |
M1139T |
probably benign |
Het |
Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
Celf5 |
G |
T |
10: 81,302,914 (GRCm39) |
|
probably benign |
Het |
Chd6 |
G |
A |
2: 160,830,290 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
A |
T |
9: 79,551,208 (GRCm39) |
V2136E |
probably damaging |
Het |
Col4a1 |
G |
T |
8: 11,286,075 (GRCm39) |
|
probably benign |
Het |
Dph1 |
A |
G |
11: 75,071,775 (GRCm39) |
|
probably benign |
Het |
Dvl2 |
G |
T |
11: 69,900,410 (GRCm39) |
V735F |
possibly damaging |
Het |
Eif3b |
A |
G |
5: 140,427,495 (GRCm39) |
I709V |
possibly damaging |
Het |
Elp5 |
C |
T |
11: 69,859,296 (GRCm39) |
|
probably benign |
Het |
Exd1 |
A |
T |
2: 119,360,560 (GRCm39) |
|
probably benign |
Het |
Fbxl4 |
C |
A |
4: 22,427,348 (GRCm39) |
R530S |
probably benign |
Het |
Fmo4 |
A |
T |
1: 162,626,693 (GRCm39) |
D284E |
probably damaging |
Het |
Fn3krp |
A |
G |
11: 121,312,380 (GRCm39) |
Y31C |
probably damaging |
Het |
Galnt14 |
G |
T |
17: 73,811,914 (GRCm39) |
Q436K |
probably benign |
Het |
Gm5114 |
A |
T |
7: 39,057,241 (GRCm39) |
W793R |
probably damaging |
Het |
Gm9376 |
T |
G |
14: 118,505,059 (GRCm39) |
S164A |
possibly damaging |
Het |
Gtf2ird2 |
G |
A |
5: 134,221,603 (GRCm39) |
D69N |
probably damaging |
Het |
Ighv9-1 |
A |
C |
12: 114,057,619 (GRCm39) |
S94A |
probably damaging |
Het |
Ikzf2 |
C |
T |
1: 69,617,146 (GRCm39) |
R67H |
probably benign |
Het |
Ipcef1 |
A |
T |
10: 6,850,642 (GRCm39) |
F316L |
probably damaging |
Het |
Kdsr |
A |
G |
1: 106,683,187 (GRCm39) |
V62A |
possibly damaging |
Het |
Kif23 |
A |
T |
9: 61,839,411 (GRCm39) |
C279S |
possibly damaging |
Het |
Klf5 |
C |
T |
14: 99,539,157 (GRCm39) |
T110I |
probably benign |
Het |
Klhl25 |
T |
A |
7: 75,515,620 (GRCm39) |
H175Q |
probably benign |
Het |
Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
Nfatc4 |
T |
C |
14: 56,069,962 (GRCm39) |
V710A |
probably benign |
Het |
Optn |
G |
A |
2: 5,037,967 (GRCm39) |
T409I |
possibly damaging |
Het |
Or10j3b |
A |
T |
1: 173,043,440 (GRCm39) |
Y74F |
probably damaging |
Het |
Or52a5 |
C |
T |
7: 103,427,448 (GRCm39) |
V35I |
probably benign |
Het |
Pabpc2 |
T |
A |
18: 39,907,082 (GRCm39) |
Y116N |
probably damaging |
Het |
Pafah1b1 |
G |
T |
11: 74,574,473 (GRCm39) |
R238S |
probably damaging |
Het |
Pdzd9 |
C |
T |
7: 120,267,618 (GRCm39) |
G66R |
probably damaging |
Het |
Pih1d1 |
T |
C |
7: 44,809,388 (GRCm39) |
L285P |
probably damaging |
Het |
Pirb |
G |
A |
7: 3,720,405 (GRCm39) |
P323S |
probably damaging |
Het |
Pkd1l1 |
A |
G |
11: 8,883,685 (GRCm39) |
F396L |
possibly damaging |
Het |
Pla2g4d |
G |
A |
2: 120,112,207 (GRCm39) |
T108M |
probably damaging |
Het |
Plin3 |
T |
C |
17: 56,586,814 (GRCm39) |
Y411C |
probably damaging |
Het |
Ppfibp2 |
T |
C |
7: 107,346,746 (GRCm39) |
|
probably benign |
Het |
Prrc2c |
T |
C |
1: 162,510,061 (GRCm39) |
S995G |
probably damaging |
Het |
Ptf1a |
T |
C |
2: 19,451,429 (GRCm39) |
I253T |
probably damaging |
Het |
Ptprb |
A |
G |
10: 116,198,553 (GRCm39) |
I1684V |
probably benign |
Het |
Ptprk |
G |
A |
10: 28,351,174 (GRCm39) |
V556I |
probably benign |
Het |
Rffl |
A |
T |
11: 82,709,283 (GRCm39) |
C47S |
probably damaging |
Het |
Rnf17 |
C |
T |
14: 56,700,521 (GRCm39) |
Q569* |
probably null |
Het |
Shprh |
A |
G |
10: 11,059,612 (GRCm39) |
E1121G |
probably damaging |
Het |
Slc1a5 |
A |
G |
7: 16,529,787 (GRCm39) |
D402G |
probably damaging |
Het |
Slc24a3 |
G |
A |
2: 145,458,634 (GRCm39) |
|
probably null |
Het |
Slc2a13 |
T |
A |
15: 91,234,335 (GRCm39) |
|
probably null |
Het |
Slc30a8 |
A |
T |
15: 52,169,955 (GRCm39) |
N61Y |
possibly damaging |
Het |
Slitrk6 |
A |
T |
14: 110,988,868 (GRCm39) |
S280T |
possibly damaging |
Het |
Smad2 |
G |
A |
18: 76,435,501 (GRCm39) |
A365T |
probably benign |
Het |
Tcp10b |
C |
T |
17: 13,299,047 (GRCm39) |
P367S |
probably damaging |
Het |
Tdp1 |
A |
G |
12: 99,857,929 (GRCm39) |
N163D |
probably benign |
Het |
Thbs1 |
A |
G |
2: 117,948,808 (GRCm39) |
D488G |
possibly damaging |
Het |
Trappc12 |
C |
T |
12: 28,796,761 (GRCm39) |
S257N |
probably damaging |
Het |
Treml1 |
T |
C |
17: 48,672,627 (GRCm39) |
|
probably benign |
Het |
Ugt2b36 |
A |
G |
5: 87,228,744 (GRCm39) |
V234A |
probably damaging |
Het |
Vmn2r86 |
T |
G |
10: 130,288,895 (GRCm39) |
H202P |
probably damaging |
Het |
Vmn2r87 |
C |
A |
10: 130,307,878 (GRCm39) |
V787F |
probably damaging |
Het |
Wbp2nl |
T |
A |
15: 82,190,619 (GRCm39) |
M129K |
probably damaging |
Het |
Zdhhc15 |
T |
C |
X: 103,588,519 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Hfm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00944:Hfm1
|
APN |
5 |
107,049,996 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL01725:Hfm1
|
APN |
5 |
107,065,245 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01758:Hfm1
|
APN |
5 |
107,052,659 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01911:Hfm1
|
APN |
5 |
107,059,410 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02337:Hfm1
|
APN |
5 |
107,052,133 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02472:Hfm1
|
APN |
5 |
107,021,794 (GRCm39) |
splice site |
probably benign |
|
IGL02496:Hfm1
|
APN |
5 |
107,049,627 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02545:Hfm1
|
APN |
5 |
107,043,153 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02584:Hfm1
|
APN |
5 |
107,026,528 (GRCm39) |
splice site |
probably null |
|
IGL02728:Hfm1
|
APN |
5 |
107,026,689 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02881:Hfm1
|
APN |
5 |
107,022,118 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03108:Hfm1
|
APN |
5 |
107,043,800 (GRCm39) |
unclassified |
probably benign |
|
IGL03351:Hfm1
|
APN |
5 |
107,059,441 (GRCm39) |
nonsense |
probably null |
|
IGL03353:Hfm1
|
APN |
5 |
107,004,795 (GRCm39) |
missense |
probably damaging |
0.99 |
R0024:Hfm1
|
UTSW |
5 |
107,004,790 (GRCm39) |
missense |
probably benign |
0.41 |
R0024:Hfm1
|
UTSW |
5 |
107,004,790 (GRCm39) |
missense |
probably benign |
0.41 |
R0094:Hfm1
|
UTSW |
5 |
107,065,344 (GRCm39) |
missense |
probably benign |
|
R0633:Hfm1
|
UTSW |
5 |
107,065,467 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0644:Hfm1
|
UTSW |
5 |
107,046,122 (GRCm39) |
critical splice donor site |
probably null |
|
R1078:Hfm1
|
UTSW |
5 |
107,026,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R1120:Hfm1
|
UTSW |
5 |
107,052,084 (GRCm39) |
splice site |
probably benign |
|
R1166:Hfm1
|
UTSW |
5 |
107,059,277 (GRCm39) |
missense |
probably benign |
0.00 |
R1242:Hfm1
|
UTSW |
5 |
107,022,767 (GRCm39) |
missense |
probably damaging |
0.99 |
R1414:Hfm1
|
UTSW |
5 |
107,020,219 (GRCm39) |
missense |
probably benign |
0.01 |
R1450:Hfm1
|
UTSW |
5 |
107,066,324 (GRCm39) |
missense |
probably damaging |
0.99 |
R1529:Hfm1
|
UTSW |
5 |
107,000,989 (GRCm39) |
missense |
probably benign |
0.00 |
R1622:Hfm1
|
UTSW |
5 |
107,041,389 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1710:Hfm1
|
UTSW |
5 |
107,043,869 (GRCm39) |
missense |
probably damaging |
0.96 |
R1710:Hfm1
|
UTSW |
5 |
107,028,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R1757:Hfm1
|
UTSW |
5 |
107,028,226 (GRCm39) |
splice site |
probably null |
|
R1856:Hfm1
|
UTSW |
5 |
106,995,542 (GRCm39) |
missense |
probably benign |
0.00 |
R1984:Hfm1
|
UTSW |
5 |
107,046,442 (GRCm39) |
missense |
probably damaging |
0.98 |
R1985:Hfm1
|
UTSW |
5 |
107,046,442 (GRCm39) |
missense |
probably damaging |
0.98 |
R2040:Hfm1
|
UTSW |
5 |
107,049,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R2122:Hfm1
|
UTSW |
5 |
107,044,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R2426:Hfm1
|
UTSW |
5 |
106,995,519 (GRCm39) |
splice site |
probably null |
|
R2474:Hfm1
|
UTSW |
5 |
107,020,282 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2926:Hfm1
|
UTSW |
5 |
107,022,148 (GRCm39) |
nonsense |
probably null |
|
R2944:Hfm1
|
UTSW |
5 |
107,020,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R3705:Hfm1
|
UTSW |
5 |
107,040,705 (GRCm39) |
unclassified |
probably benign |
|
R4256:Hfm1
|
UTSW |
5 |
107,052,663 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4455:Hfm1
|
UTSW |
5 |
107,034,374 (GRCm39) |
splice site |
probably null |
|
R4538:Hfm1
|
UTSW |
5 |
107,022,756 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4540:Hfm1
|
UTSW |
5 |
107,022,087 (GRCm39) |
nonsense |
probably null |
|
R4591:Hfm1
|
UTSW |
5 |
106,995,533 (GRCm39) |
missense |
probably benign |
0.08 |
R4745:Hfm1
|
UTSW |
5 |
107,049,709 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4747:Hfm1
|
UTSW |
5 |
107,065,389 (GRCm39) |
missense |
probably benign |
|
R4765:Hfm1
|
UTSW |
5 |
106,990,405 (GRCm39) |
missense |
probably benign |
0.21 |
R4821:Hfm1
|
UTSW |
5 |
107,002,606 (GRCm39) |
critical splice donor site |
probably null |
|
R4842:Hfm1
|
UTSW |
5 |
107,040,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R4944:Hfm1
|
UTSW |
5 |
107,022,079 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5093:Hfm1
|
UTSW |
5 |
107,049,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R5399:Hfm1
|
UTSW |
5 |
107,065,428 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5414:Hfm1
|
UTSW |
5 |
107,049,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R5436:Hfm1
|
UTSW |
5 |
107,040,638 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5459:Hfm1
|
UTSW |
5 |
107,052,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R5485:Hfm1
|
UTSW |
5 |
106,995,528 (GRCm39) |
critical splice donor site |
probably null |
|
R5585:Hfm1
|
UTSW |
5 |
107,059,305 (GRCm39) |
missense |
probably benign |
0.05 |
R5631:Hfm1
|
UTSW |
5 |
107,052,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R5705:Hfm1
|
UTSW |
5 |
107,059,319 (GRCm39) |
missense |
probably benign |
0.21 |
R5804:Hfm1
|
UTSW |
5 |
107,026,455 (GRCm39) |
splice site |
probably null |
|
R5959:Hfm1
|
UTSW |
5 |
107,022,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R6046:Hfm1
|
UTSW |
5 |
107,046,509 (GRCm39) |
splice site |
probably null |
|
R6191:Hfm1
|
UTSW |
5 |
107,034,419 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6345:Hfm1
|
UTSW |
5 |
106,989,504 (GRCm39) |
missense |
probably benign |
|
R6580:Hfm1
|
UTSW |
5 |
106,995,575 (GRCm39) |
missense |
probably benign |
0.00 |
R6651:Hfm1
|
UTSW |
5 |
106,995,553 (GRCm39) |
missense |
probably benign |
0.00 |
R6761:Hfm1
|
UTSW |
5 |
107,043,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R6835:Hfm1
|
UTSW |
5 |
107,026,681 (GRCm39) |
nonsense |
probably null |
|
R6891:Hfm1
|
UTSW |
5 |
107,065,240 (GRCm39) |
missense |
possibly damaging |
0.49 |
R6924:Hfm1
|
UTSW |
5 |
106,998,276 (GRCm39) |
splice site |
probably null |
|
R6980:Hfm1
|
UTSW |
5 |
107,028,343 (GRCm39) |
missense |
probably benign |
0.31 |
R7054:Hfm1
|
UTSW |
5 |
107,043,909 (GRCm39) |
missense |
probably benign |
0.01 |
R7058:Hfm1
|
UTSW |
5 |
107,059,306 (GRCm39) |
missense |
probably benign |
0.04 |
R7189:Hfm1
|
UTSW |
5 |
107,049,569 (GRCm39) |
critical splice donor site |
probably null |
|
R7250:Hfm1
|
UTSW |
5 |
107,052,197 (GRCm39) |
missense |
probably benign |
0.00 |
R7376:Hfm1
|
UTSW |
5 |
107,043,084 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7577:Hfm1
|
UTSW |
5 |
107,043,909 (GRCm39) |
missense |
probably benign |
0.01 |
R7636:Hfm1
|
UTSW |
5 |
107,065,332 (GRCm39) |
missense |
probably benign |
0.02 |
R7639:Hfm1
|
UTSW |
5 |
107,046,341 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7639:Hfm1
|
UTSW |
5 |
107,037,791 (GRCm39) |
missense |
probably benign |
0.03 |
R7763:Hfm1
|
UTSW |
5 |
107,029,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R7828:Hfm1
|
UTSW |
5 |
107,029,657 (GRCm39) |
critical splice donor site |
probably null |
|
R7905:Hfm1
|
UTSW |
5 |
107,046,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R8160:Hfm1
|
UTSW |
5 |
107,043,899 (GRCm39) |
missense |
probably null |
0.00 |
R8477:Hfm1
|
UTSW |
5 |
107,029,684 (GRCm39) |
missense |
probably benign |
0.01 |
R8739:Hfm1
|
UTSW |
5 |
107,046,371 (GRCm39) |
missense |
probably damaging |
0.96 |
R8968:Hfm1
|
UTSW |
5 |
107,065,439 (GRCm39) |
missense |
probably benign |
0.00 |
R9072:Hfm1
|
UTSW |
5 |
107,046,146 (GRCm39) |
missense |
probably benign |
0.04 |
R9073:Hfm1
|
UTSW |
5 |
107,046,146 (GRCm39) |
missense |
probably benign |
0.04 |
R9152:Hfm1
|
UTSW |
5 |
106,989,611 (GRCm39) |
missense |
probably benign |
0.01 |
R9234:Hfm1
|
UTSW |
5 |
107,041,334 (GRCm39) |
missense |
probably benign |
|
R9244:Hfm1
|
UTSW |
5 |
107,022,766 (GRCm39) |
missense |
probably damaging |
0.96 |
R9576:Hfm1
|
UTSW |
5 |
107,021,938 (GRCm39) |
missense |
probably benign |
0.00 |
R9649:Hfm1
|
UTSW |
5 |
107,066,329 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9743:Hfm1
|
UTSW |
5 |
107,022,125 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9782:Hfm1
|
UTSW |
5 |
107,021,896 (GRCm39) |
missense |
probably benign |
0.38 |
R9789:Hfm1
|
UTSW |
5 |
107,065,346 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Hfm1
|
UTSW |
5 |
107,019,686 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-10-07 |