Incidental Mutation 'R6891:Hfm1'
ID |
537207 |
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 |
044985-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R6891 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
106840192-106926321 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 106917374 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 146
(K146N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112690]
[ENSMUST00000117588]
[ENSMUST00000148686]
[ENSMUST00000200249]
|
AlphaFold |
D3Z4R1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112690
AA Change: K146N
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000108310 Gene: ENSMUSG00000043410 AA Change: K146N
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 |
possibly damaging
Transcript: ENSMUST00000117588
AA Change: K146N
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000112590 Gene: ENSMUSG00000043410 AA Change: K146N
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: ENSMUST00000148686
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200249
AA Change: K146N
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142727 Gene: ENSMUSG00000043410 AA Change: K146N
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
97% (72/74) |
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 |
4833423E24Rik |
C |
A |
2: 85,488,805 |
M384I |
possibly damaging |
Het |
4833423E24Rik |
T |
G |
2: 85,488,813 |
T382P |
probably damaging |
Het |
Actl11 |
C |
T |
9: 107,929,147 |
A223V |
probably benign |
Het |
Agbl5 |
G |
T |
5: 30,895,178 |
R61L |
probably damaging |
Het |
Agmat |
A |
T |
4: 141,755,881 |
T209S |
probably benign |
Het |
Ankrd34a |
G |
A |
3: 96,598,019 |
V180I |
probably benign |
Het |
Anks1 |
C |
T |
17: 28,057,424 |
T1047M |
probably damaging |
Het |
Arhgap21 |
T |
A |
2: 20,850,331 |
I1407F |
probably damaging |
Het |
Armc1 |
C |
A |
3: 19,135,041 |
C183F |
probably damaging |
Het |
Atg13 |
A |
G |
2: 91,685,791 |
M196T |
probably benign |
Het |
AU040320 |
G |
T |
4: 126,846,438 |
S864I |
possibly damaging |
Het |
Btn2a2 |
T |
C |
13: 23,482,844 |
D197G |
probably benign |
Het |
Carmil1 |
A |
G |
13: 24,141,723 |
I208T |
probably benign |
Het |
Cbs |
T |
A |
17: 31,622,457 |
R263S |
probably damaging |
Het |
Ccdc7a |
C |
A |
8: 129,026,638 |
R204L |
probably damaging |
Het |
Cdhr1 |
A |
T |
14: 37,097,377 |
|
probably null |
Het |
Cers4 |
G |
A |
8: 4,523,731 |
R378Q |
probably damaging |
Het |
Chst1 |
T |
G |
2: 92,613,743 |
L187V |
probably benign |
Het |
Clec4e |
A |
T |
6: 123,283,606 |
N164K |
probably damaging |
Het |
Cln3 |
T |
A |
7: 126,582,803 |
D29V |
possibly damaging |
Het |
Crybg2 |
A |
G |
4: 134,081,837 |
S187G |
probably benign |
Het |
Ddx1 |
A |
T |
12: 13,236,095 |
N285K |
probably benign |
Het |
Dmxl2 |
A |
G |
9: 54,480,380 |
I58T |
probably damaging |
Het |
Dock4 |
A |
G |
12: 40,779,136 |
Y1007C |
probably damaging |
Het |
Eral1 |
C |
T |
11: 78,075,733 |
V234I |
possibly damaging |
Het |
Fam161b |
A |
G |
12: 84,354,780 |
F400S |
probably damaging |
Het |
Fmnl3 |
T |
C |
15: 99,325,873 |
D314G |
probably damaging |
Het |
Foxred2 |
A |
T |
15: 77,955,709 |
L127Q |
probably damaging |
Het |
Gjd2 |
G |
A |
2: 114,013,094 |
A14V |
possibly damaging |
Het |
Gm3106 |
C |
A |
5: 94,218,119 |
P32Q |
probably damaging |
Het |
Gon4l |
A |
G |
3: 88,858,866 |
|
probably null |
Het |
Gpr151 |
T |
A |
18: 42,578,920 |
D231V |
probably benign |
Het |
Gzf1 |
A |
T |
2: 148,684,769 |
K387* |
probably null |
Het |
Hgf |
G |
A |
5: 16,604,922 |
|
probably null |
Het |
Isoc2b |
A |
G |
7: 4,851,488 |
S15P |
probably damaging |
Het |
Itga5 |
A |
G |
15: 103,357,543 |
S126P |
probably damaging |
Het |
Kat6b |
A |
G |
14: 21,669,036 |
D1152G |
probably benign |
Het |
Kcna4 |
C |
T |
2: 107,296,307 |
S462F |
probably damaging |
Het |
Kif24 |
A |
T |
4: 41,394,168 |
C902S |
probably benign |
Het |
Lama2 |
G |
C |
10: 27,328,082 |
S520* |
probably null |
Het |
Lama2 |
A |
T |
10: 27,328,072 |
C523* |
probably null |
Het |
Ltf |
T |
C |
9: 111,025,113 |
V332A |
probably benign |
Het |
Mapkap1 |
T |
C |
2: 34,563,141 |
F349L |
probably damaging |
Het |
Mdm1 |
A |
G |
10: 118,148,032 |
N188D |
probably benign |
Het |
Mfn1 |
T |
C |
3: 32,577,103 |
S730P |
possibly damaging |
Het |
Mrgprd |
T |
A |
7: 145,322,350 |
D319E |
probably benign |
Het |
Mrps9 |
C |
A |
1: 42,905,413 |
L364I |
probably damaging |
Het |
Myo1h |
C |
T |
5: 114,349,612 |
R626C |
probably damaging |
Het |
Nme3 |
T |
C |
17: 24,896,855 |
S61P |
probably benign |
Het |
Olfr123 |
A |
G |
17: 37,795,504 |
Q20R |
probably benign |
Het |
Olfr670 |
A |
G |
7: 104,959,985 |
I249T |
probably damaging |
Het |
Pald1 |
A |
G |
10: 61,348,532 |
|
probably null |
Het |
Papola |
A |
T |
12: 105,809,691 |
|
probably benign |
Het |
Peg10 |
GAT |
GATCAT |
6: 4,756,449 |
|
probably benign |
Het |
Plch1 |
T |
C |
3: 63,698,083 |
T1458A |
probably benign |
Het |
Polr3e |
A |
G |
7: 120,944,650 |
Q659R |
probably damaging |
Het |
Shoc2 |
T |
C |
19: 53,988,117 |
V146A |
probably benign |
Het |
Slc15a1 |
T |
C |
14: 121,476,030 |
T362A |
probably benign |
Het |
Smpd3 |
A |
G |
8: 106,264,668 |
Y418H |
probably damaging |
Het |
Sorcs1 |
A |
T |
19: 50,225,119 |
C723* |
probably null |
Het |
Supt7l |
T |
A |
5: 31,523,021 |
N16Y |
probably damaging |
Het |
Syngr2 |
T |
C |
11: 117,812,673 |
V105A |
probably damaging |
Het |
Thrb |
T |
A |
14: 17,981,899 |
V8E |
probably benign |
Het |
Tlx1 |
A |
T |
19: 45,151,318 |
I135F |
probably damaging |
Het |
Tnfaip3 |
A |
G |
10: 19,011,669 |
I36T |
probably damaging |
Het |
Troap |
A |
G |
15: 99,082,688 |
Y583C |
possibly damaging |
Het |
Usp17lb |
T |
C |
7: 104,841,100 |
K207E |
probably benign |
Het |
Vmn2r10 |
C |
T |
5: 109,001,979 |
V400M |
probably damaging |
Het |
Wdr49 |
A |
T |
3: 75,333,283 |
|
probably null |
Het |
Wdr64 |
G |
T |
1: 175,706,068 |
W90L |
probably damaging |
Het |
Yme1l1 |
A |
G |
2: 23,195,389 |
E662G |
probably damaging |
Het |
Zfp334 |
C |
T |
2: 165,382,724 |
V68I |
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 |
|
IGL02728:Hfm1
|
APN |
5 |
106,878,823 (GRCm38) |
missense |
probably benign |
0.13 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCCCAGGCCTGATACTCATATAAAC -3'
(R):5'- CTCAGTGCATGGTTCTTGTAATATTCG -3'
Sequencing Primer
(F):5'- AGGCCTGATACTCATATAAACATTTC -3'
(R):5'- CACTGTCTGTGTAGTCAGAGAAC -3'
|
Posted On |
2018-10-18 |