Incidental Mutation 'R7054:Hfm1'
ID |
547765 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hfm1
|
Ensembl Gene |
ENSMUSG00000043410 |
Gene Name |
HFM1, ATP-dependent DNA helicase homolog |
Synonyms |
LOC381663, A330009G12Rik, Mer3, Sec63d1 |
MMRRC Submission |
045151-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R7054 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
106988058-107074187 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 107043909 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 576
(T576A)
|
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: T576A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000108310 Gene: ENSMUSG00000043410 AA Change: T576A
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: T576A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000112590 Gene: ENSMUSG00000043410 AA Change: T576A
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
94% (67/71) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930553M12Rik |
T |
A |
4: 88,786,486 (GRCm39) |
H44L |
unknown |
Het |
Abcc3 |
T |
C |
11: 94,256,051 (GRCm39) |
K478R |
probably benign |
Het |
Ank2 |
A |
T |
3: 126,736,952 (GRCm39) |
|
probably benign |
Het |
Apod |
A |
G |
16: 31,129,950 (GRCm39) |
V2A |
probably benign |
Het |
Armh4 |
C |
A |
14: 50,011,155 (GRCm39) |
S184I |
probably damaging |
Het |
Aspg |
T |
A |
12: 112,092,824 (GRCm39) |
D530E |
probably damaging |
Het |
Atxn7 |
A |
T |
14: 14,100,878 (GRCm38) |
T855S |
probably benign |
Het |
Blmh |
G |
C |
11: 76,859,451 (GRCm39) |
G351R |
probably damaging |
Het |
Cc2d2a |
C |
T |
5: 43,857,321 (GRCm39) |
R454* |
probably null |
Het |
Cenpp |
T |
C |
13: 49,619,233 (GRCm39) |
E188G |
probably damaging |
Het |
Cimip3 |
A |
G |
17: 47,748,114 (GRCm39) |
|
probably null |
Het |
Creg2 |
T |
C |
1: 39,662,376 (GRCm39) |
E252G |
probably benign |
Het |
Dot1l |
A |
G |
10: 80,622,857 (GRCm39) |
Y636C |
probably damaging |
Het |
Dpy30 |
A |
G |
17: 74,614,835 (GRCm39) |
I36T |
probably benign |
Het |
Eed |
A |
G |
7: 89,613,935 (GRCm39) |
|
probably null |
Het |
Fmn1 |
A |
G |
2: 113,195,353 (GRCm39) |
D351G |
unknown |
Het |
Fra10ac1 |
C |
T |
19: 38,212,567 (GRCm39) |
|
probably benign |
Het |
Gdpd4 |
T |
A |
7: 97,623,136 (GRCm39) |
I249N |
probably damaging |
Het |
Glb1l2 |
A |
T |
9: 26,676,423 (GRCm39) |
V600D |
probably null |
Het |
Gm13889 |
A |
T |
2: 93,787,459 (GRCm39) |
|
probably benign |
Het |
Gm17654 |
T |
A |
14: 43,813,327 (GRCm39) |
N188Y |
|
Het |
Gm3327 |
T |
C |
14: 44,363,732 (GRCm39) |
F112S |
|
Het |
H2-Ab1 |
T |
C |
17: 34,482,316 (GRCm39) |
S11P |
probably benign |
Het |
Hcn4 |
T |
C |
9: 58,763,000 (GRCm39) |
S522P |
unknown |
Het |
Hoxa1 |
A |
G |
6: 52,135,180 (GRCm39) |
S8P |
probably damaging |
Het |
Hoxd13 |
A |
G |
2: 74,499,369 (GRCm39) |
Y239C |
probably damaging |
Het |
Ifih1 |
T |
A |
2: 62,440,859 (GRCm39) |
I485L |
probably benign |
Het |
Ift52 |
G |
A |
2: 162,871,716 (GRCm39) |
V183M |
probably damaging |
Het |
Ikbkb |
A |
G |
8: 23,161,658 (GRCm39) |
V410A |
possibly damaging |
Het |
Il22ra1 |
G |
A |
4: 135,478,473 (GRCm39) |
V515I |
probably benign |
Het |
Klk1b3 |
A |
T |
7: 43,850,863 (GRCm39) |
I132F |
probably damaging |
Het |
Limk2 |
T |
C |
11: 3,305,448 (GRCm39) |
T206A |
possibly damaging |
Het |
Llph |
A |
T |
10: 120,067,240 (GRCm39) |
|
probably benign |
Het |
Lrrc26 |
T |
A |
2: 25,180,087 (GRCm39) |
D29E |
probably benign |
Het |
Ltbp4 |
A |
G |
7: 27,007,191 (GRCm39) |
|
probably null |
Het |
Mageb3 |
A |
T |
2: 121,784,973 (GRCm39) |
V243E |
probably damaging |
Het |
Mfhas1 |
T |
C |
8: 36,055,792 (GRCm39) |
V89A |
probably benign |
Het |
Mycbp2 |
G |
A |
14: 103,393,534 (GRCm39) |
T2899I |
possibly damaging |
Het |
Nckap5 |
A |
T |
1: 126,186,449 (GRCm39) |
|
probably null |
Het |
Ncor1 |
T |
C |
11: 62,275,619 (GRCm39) |
D530G |
probably null |
Het |
Or10ag55-ps1 |
T |
A |
2: 87,114,775 (GRCm39) |
M47K |
probably benign |
Het |
Or56a3b |
C |
T |
7: 104,771,170 (GRCm39) |
R169* |
probably null |
Het |
Pax4 |
A |
G |
6: 28,446,322 (GRCm39) |
I57T |
probably damaging |
Het |
Peg12 |
T |
C |
7: 62,113,711 (GRCm39) |
I129V |
possibly damaging |
Het |
Pex6 |
G |
A |
17: 47,031,447 (GRCm39) |
A416T |
probably benign |
Het |
Pgghg |
G |
A |
7: 140,524,631 (GRCm39) |
R326H |
probably benign |
Het |
Pgk2 |
T |
A |
17: 40,519,366 (GRCm39) |
M21L |
probably benign |
Het |
Polh |
A |
T |
17: 46,509,642 (GRCm39) |
W64R |
probably benign |
Het |
Rassf7 |
T |
A |
7: 140,797,556 (GRCm39) |
H256Q |
probably benign |
Het |
Rc3h2 |
A |
G |
2: 37,265,258 (GRCm39) |
M1184T |
probably benign |
Het |
Ror1 |
A |
T |
4: 100,299,436 (GRCm39) |
E936D |
probably benign |
Het |
Skic3 |
G |
A |
13: 76,283,079 (GRCm39) |
A769T |
probably damaging |
Het |
Slco1b2 |
A |
T |
6: 141,617,974 (GRCm39) |
T440S |
probably damaging |
Het |
Specc1 |
T |
A |
11: 62,008,604 (GRCm39) |
V40E |
probably damaging |
Het |
Tarbp1 |
T |
A |
8: 127,201,234 (GRCm39) |
S191C |
possibly damaging |
Het |
Timm22 |
A |
G |
11: 76,298,071 (GRCm39) |
E14G |
possibly damaging |
Het |
Tpp2 |
T |
A |
1: 44,022,318 (GRCm39) |
D905E |
probably damaging |
Het |
Trav7-5 |
T |
C |
14: 53,768,756 (GRCm39) |
L108P |
probably damaging |
Het |
Ttc9b |
A |
G |
7: 27,353,667 (GRCm39) |
T106A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,545,012 (GRCm39) |
S32697G |
probably damaging |
Het |
Usp17la |
T |
G |
7: 104,510,514 (GRCm39) |
L373R |
probably benign |
Het |
Vmn1r113 |
A |
G |
7: 20,521,427 (GRCm39) |
N73S |
probably benign |
Het |
Vmn1r42 |
T |
C |
6: 89,822,051 (GRCm39) |
T173A |
possibly damaging |
Het |
Vmn2r106 |
A |
G |
17: 20,499,182 (GRCm39) |
V243A |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r25 |
T |
A |
6: 123,800,569 (GRCm39) |
D591V |
probably damaging |
Het |
Zc3h13 |
T |
C |
14: 75,559,227 (GRCm39) |
S379P |
probably benign |
Het |
Zfp870 |
T |
C |
17: 33,102,456 (GRCm39) |
Y292C |
probably damaging |
Het |
Zfp977 |
A |
T |
7: 42,229,786 (GRCm39) |
N246K |
possibly damaging |
Het |
Zp1 |
G |
A |
19: 10,896,104 (GRCm39) |
T207M |
probably damaging |
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 |
IGL01295:Hfm1
|
APN |
5 |
107,065,472 (GRCm39) |
missense |
possibly damaging |
0.46 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTACTGTAATATGGATGCACAGTTC -3'
(R):5'- GCATATTCTATAAGGGATTCAAAGCTG -3'
Sequencing Primer
(F):5'- TCTGTAACAAGATCTGGCGC -3'
(R):5'- TCTATAAGGGATTCAAAGCTGAAAGG -3'
|
Posted On |
2019-05-13 |