Incidental Mutation 'R4290:Fhdc1'
ID |
322988 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fhdc1
|
Ensembl Gene |
ENSMUSG00000041842 |
Gene Name |
FH2 domain containing 1 |
Synonyms |
6330505N24Rik |
MMRRC Submission |
041655-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.327)
|
Stock # |
R4290 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
84349505-84387736 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 84352133 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 1031
(V1031F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103317
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091002]
[ENSMUST00000107689]
[ENSMUST00000194027]
|
AlphaFold |
Q3ULZ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000091002
AA Change: V1031F
PolyPhen 2
Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000088525 Gene: ENSMUSG00000041842 AA Change: V1031F
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
48 |
N/A |
INTRINSIC |
low complexity region
|
55 |
82 |
N/A |
INTRINSIC |
FH2
|
88 |
538 |
5.13e-57 |
SMART |
Blast:FH2
|
539 |
571 |
6e-6 |
BLAST |
low complexity region
|
789 |
822 |
N/A |
INTRINSIC |
low complexity region
|
962 |
976 |
N/A |
INTRINSIC |
low complexity region
|
1009 |
1026 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107689
AA Change: V1031F
PolyPhen 2
Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000103317 Gene: ENSMUSG00000041842 AA Change: V1031F
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
48 |
N/A |
INTRINSIC |
low complexity region
|
55 |
82 |
N/A |
INTRINSIC |
FH2
|
88 |
538 |
5.13e-57 |
SMART |
Blast:FH2
|
539 |
571 |
6e-6 |
BLAST |
low complexity region
|
789 |
822 |
N/A |
INTRINSIC |
low complexity region
|
962 |
976 |
N/A |
INTRINSIC |
low complexity region
|
1009 |
1026 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125643
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194027
|
SMART Domains |
Protein: ENSMUSP00000142030 Gene: ENSMUSG00000041842
Domain | Start | End | E-Value | Type |
Pfam:FH2
|
1 |
145 |
3.8e-22 |
PFAM |
|
Meta Mutation Damage Score |
0.0644 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
100% (73/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
C |
6: 142,539,738 (GRCm39) |
N1545S |
probably benign |
Het |
Arid1b |
C |
A |
17: 5,090,938 (GRCm39) |
S546R |
probably damaging |
Het |
Arid3b |
A |
T |
9: 57,697,713 (GRCm39) |
|
probably benign |
Het |
Atf6b |
T |
A |
17: 34,871,648 (GRCm39) |
M428K |
probably benign |
Het |
Atpaf1 |
A |
T |
4: 115,645,556 (GRCm39) |
M142L |
probably benign |
Het |
Auts2 |
A |
G |
5: 131,503,809 (GRCm39) |
S225P |
probably damaging |
Het |
Bclaf1 |
A |
G |
10: 20,199,524 (GRCm39) |
Q20R |
probably damaging |
Het |
Bivm |
A |
T |
1: 44,177,793 (GRCm39) |
R364S |
probably damaging |
Het |
Brwd1 |
G |
A |
16: 95,818,804 (GRCm39) |
P1343S |
probably damaging |
Het |
Cckar |
A |
G |
5: 53,863,839 (GRCm39) |
S41P |
probably benign |
Het |
Cfap221 |
A |
G |
1: 119,858,650 (GRCm39) |
S728P |
probably benign |
Het |
Chrna9 |
A |
G |
5: 66,134,481 (GRCm39) |
K444R |
probably benign |
Het |
Cox10 |
A |
T |
11: 63,855,081 (GRCm39) |
V400E |
probably benign |
Het |
Dact2 |
C |
T |
17: 14,416,833 (GRCm39) |
E456K |
probably benign |
Het |
Ddr2 |
A |
G |
1: 169,818,178 (GRCm39) |
V443A |
probably benign |
Het |
Dlg3 |
A |
T |
X: 99,840,288 (GRCm39) |
|
probably benign |
Het |
En1 |
C |
A |
1: 120,531,486 (GRCm39) |
A242E |
unknown |
Het |
Gm6124 |
A |
T |
7: 38,872,195 (GRCm39) |
|
noncoding transcript |
Het |
Gucy1a1 |
A |
T |
3: 82,002,066 (GRCm39) |
F671Y |
possibly damaging |
Het |
Hddc2 |
A |
T |
10: 31,190,583 (GRCm39) |
M48L |
possibly damaging |
Het |
Hepacam2 |
T |
A |
6: 3,487,237 (GRCm39) |
Y40F |
probably benign |
Het |
Ift80 |
A |
G |
3: 68,871,023 (GRCm39) |
I191T |
probably damaging |
Het |
Il19 |
T |
A |
1: 130,862,750 (GRCm39) |
T58S |
possibly damaging |
Het |
Itga2 |
G |
A |
13: 115,002,709 (GRCm39) |
R594C |
probably damaging |
Het |
Itga5 |
C |
T |
15: 103,260,684 (GRCm39) |
|
probably null |
Het |
Kcna1 |
T |
C |
6: 126,618,838 (GRCm39) |
D494G |
probably damaging |
Het |
Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
Kmt2b |
A |
T |
7: 30,281,261 (GRCm39) |
|
probably null |
Het |
Kmt5b |
T |
C |
19: 3,852,193 (GRCm39) |
Y125H |
possibly damaging |
Het |
Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
Lmf1 |
T |
C |
17: 25,873,455 (GRCm39) |
L320P |
probably damaging |
Het |
Man1c1 |
T |
A |
4: 134,291,096 (GRCm39) |
D600V |
probably damaging |
Het |
Mapkapk3 |
T |
C |
9: 107,136,131 (GRCm39) |
|
probably benign |
Het |
Mccc1 |
A |
G |
3: 36,044,217 (GRCm39) |
V203A |
probably damaging |
Het |
Mettl5 |
T |
C |
2: 69,711,176 (GRCm39) |
N114S |
probably benign |
Het |
Mindy2 |
T |
A |
9: 70,538,376 (GRCm39) |
R320W |
probably damaging |
Het |
Nrip1 |
A |
G |
16: 76,088,876 (GRCm39) |
S894P |
probably benign |
Het |
Nup210l |
A |
T |
3: 90,114,633 (GRCm39) |
H1736L |
probably benign |
Het |
Or14c46 |
A |
T |
7: 85,918,968 (GRCm39) |
F10I |
probably damaging |
Het |
Or2aj4 |
A |
T |
16: 19,384,994 (GRCm39) |
M213K |
possibly damaging |
Het |
Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
Or2z9 |
A |
G |
8: 72,853,612 (GRCm39) |
T3A |
probably benign |
Het |
Or4e1 |
T |
C |
14: 52,701,442 (GRCm39) |
N8S |
probably damaging |
Het |
Or6b6 |
A |
C |
7: 106,570,918 (GRCm39) |
L211R |
probably damaging |
Het |
Or8d2b |
A |
G |
9: 38,788,609 (GRCm39) |
I46V |
probably damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
Phf14 |
C |
T |
6: 11,987,096 (GRCm39) |
P559S |
probably damaging |
Het |
Plpp4 |
A |
G |
7: 128,909,356 (GRCm39) |
E22G |
probably damaging |
Het |
Ppp4c |
A |
G |
7: 126,391,231 (GRCm39) |
|
probably null |
Het |
Rps15a-ps1 |
A |
G |
10: 106,028,496 (GRCm39) |
|
noncoding transcript |
Het |
Rps27a |
A |
G |
11: 29,495,933 (GRCm39) |
Y140H |
probably benign |
Het |
Sash1 |
A |
G |
10: 8,606,006 (GRCm39) |
S795P |
possibly damaging |
Het |
Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
Stk32c |
T |
C |
7: 138,700,704 (GRCm39) |
|
probably null |
Het |
Tmem237 |
A |
G |
1: 59,158,995 (GRCm39) |
|
probably benign |
Het |
Ttc19 |
A |
G |
11: 62,176,753 (GRCm39) |
|
probably null |
Het |
Ttf2 |
T |
C |
3: 100,870,077 (GRCm39) |
D332G |
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Vcan |
A |
G |
13: 89,873,605 (GRCm39) |
V83A |
probably damaging |
Het |
Vmn1r192 |
T |
A |
13: 22,371,465 (GRCm39) |
I252F |
probably damaging |
Het |
Vmn2r101 |
A |
T |
17: 19,832,303 (GRCm39) |
R766S |
probably damaging |
Het |
Xndc1 |
T |
A |
7: 101,730,694 (GRCm39) |
L288M |
possibly damaging |
Het |
Zfa-ps |
A |
T |
10: 52,419,807 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Fhdc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00507:Fhdc1
|
APN |
3 |
84,356,107 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00556:Fhdc1
|
APN |
3 |
84,364,549 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL00951:Fhdc1
|
APN |
3 |
84,371,620 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01744:Fhdc1
|
APN |
3 |
84,352,042 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL01754:Fhdc1
|
APN |
3 |
84,352,042 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL01762:Fhdc1
|
APN |
3 |
84,352,042 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL01764:Fhdc1
|
APN |
3 |
84,352,042 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL01769:Fhdc1
|
APN |
3 |
84,352,042 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL01778:Fhdc1
|
APN |
3 |
84,352,042 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL01779:Fhdc1
|
APN |
3 |
84,352,042 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL01781:Fhdc1
|
APN |
3 |
84,352,042 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02243:Fhdc1
|
APN |
3 |
84,381,947 (GRCm39) |
start codon destroyed |
possibly damaging |
0.89 |
IGL02260:Fhdc1
|
APN |
3 |
84,352,042 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02261:Fhdc1
|
APN |
3 |
84,352,042 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02266:Fhdc1
|
APN |
3 |
84,352,042 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02271:Fhdc1
|
APN |
3 |
84,352,042 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02284:Fhdc1
|
APN |
3 |
84,352,042 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02292:Fhdc1
|
APN |
3 |
84,352,042 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02296:Fhdc1
|
APN |
3 |
84,352,042 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02301:Fhdc1
|
APN |
3 |
84,352,042 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02347:Fhdc1
|
APN |
3 |
84,352,042 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02416:Fhdc1
|
APN |
3 |
84,352,535 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03189:Fhdc1
|
APN |
3 |
84,362,368 (GRCm39) |
intron |
probably benign |
|
IGL03392:Fhdc1
|
APN |
3 |
84,351,826 (GRCm39) |
missense |
possibly damaging |
0.55 |
R0125:Fhdc1
|
UTSW |
3 |
84,352,852 (GRCm39) |
missense |
probably benign |
|
R0135:Fhdc1
|
UTSW |
3 |
84,352,925 (GRCm39) |
missense |
probably damaging |
0.97 |
R0255:Fhdc1
|
UTSW |
3 |
84,360,817 (GRCm39) |
intron |
probably benign |
|
R0401:Fhdc1
|
UTSW |
3 |
84,351,931 (GRCm39) |
missense |
probably benign |
0.02 |
R1371:Fhdc1
|
UTSW |
3 |
84,352,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R1727:Fhdc1
|
UTSW |
3 |
84,353,483 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1769:Fhdc1
|
UTSW |
3 |
84,356,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R1781:Fhdc1
|
UTSW |
3 |
84,356,111 (GRCm39) |
missense |
probably damaging |
0.99 |
R1840:Fhdc1
|
UTSW |
3 |
84,353,128 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1970:Fhdc1
|
UTSW |
3 |
84,362,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R2038:Fhdc1
|
UTSW |
3 |
84,351,868 (GRCm39) |
missense |
probably benign |
0.22 |
R2088:Fhdc1
|
UTSW |
3 |
84,382,033 (GRCm39) |
start gained |
probably benign |
|
R2256:Fhdc1
|
UTSW |
3 |
84,353,353 (GRCm39) |
missense |
probably benign |
|
R2939:Fhdc1
|
UTSW |
3 |
84,364,577 (GRCm39) |
missense |
possibly damaging |
0.47 |
R3813:Fhdc1
|
UTSW |
3 |
84,371,577 (GRCm39) |
critical splice donor site |
probably null |
|
R4022:Fhdc1
|
UTSW |
3 |
84,352,409 (GRCm39) |
missense |
probably benign |
0.01 |
R4175:Fhdc1
|
UTSW |
3 |
84,364,294 (GRCm39) |
intron |
probably benign |
|
R4243:Fhdc1
|
UTSW |
3 |
84,352,133 (GRCm39) |
missense |
probably benign |
0.42 |
R4245:Fhdc1
|
UTSW |
3 |
84,352,133 (GRCm39) |
missense |
probably benign |
0.42 |
R4291:Fhdc1
|
UTSW |
3 |
84,352,133 (GRCm39) |
missense |
probably benign |
0.42 |
R4292:Fhdc1
|
UTSW |
3 |
84,352,133 (GRCm39) |
missense |
probably benign |
0.42 |
R4293:Fhdc1
|
UTSW |
3 |
84,352,133 (GRCm39) |
missense |
probably benign |
0.42 |
R4294:Fhdc1
|
UTSW |
3 |
84,352,133 (GRCm39) |
missense |
probably benign |
0.42 |
R4295:Fhdc1
|
UTSW |
3 |
84,352,133 (GRCm39) |
missense |
probably benign |
0.42 |
R4334:Fhdc1
|
UTSW |
3 |
84,352,133 (GRCm39) |
missense |
probably benign |
0.42 |
R4335:Fhdc1
|
UTSW |
3 |
84,352,133 (GRCm39) |
missense |
probably benign |
0.42 |
R4342:Fhdc1
|
UTSW |
3 |
84,352,133 (GRCm39) |
missense |
probably benign |
0.42 |
R4344:Fhdc1
|
UTSW |
3 |
84,352,133 (GRCm39) |
missense |
probably benign |
0.42 |
R4354:Fhdc1
|
UTSW |
3 |
84,352,133 (GRCm39) |
missense |
probably benign |
0.42 |
R4550:Fhdc1
|
UTSW |
3 |
84,352,483 (GRCm39) |
missense |
probably benign |
0.16 |
R4626:Fhdc1
|
UTSW |
3 |
84,381,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R4925:Fhdc1
|
UTSW |
3 |
84,360,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R5155:Fhdc1
|
UTSW |
3 |
84,353,457 (GRCm39) |
missense |
probably benign |
0.00 |
R5588:Fhdc1
|
UTSW |
3 |
84,372,783 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6043:Fhdc1
|
UTSW |
3 |
84,356,193 (GRCm39) |
missense |
probably damaging |
0.96 |
R6063:Fhdc1
|
UTSW |
3 |
84,353,336 (GRCm39) |
missense |
probably benign |
0.00 |
R6652:Fhdc1
|
UTSW |
3 |
84,371,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R6706:Fhdc1
|
UTSW |
3 |
84,353,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R6783:Fhdc1
|
UTSW |
3 |
84,352,834 (GRCm39) |
missense |
probably benign |
0.00 |
R6984:Fhdc1
|
UTSW |
3 |
84,351,823 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7182:Fhdc1
|
UTSW |
3 |
84,356,157 (GRCm39) |
missense |
probably damaging |
0.98 |
R7299:Fhdc1
|
UTSW |
3 |
84,351,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R7574:Fhdc1
|
UTSW |
3 |
84,353,438 (GRCm39) |
missense |
probably benign |
|
R7765:Fhdc1
|
UTSW |
3 |
84,351,906 (GRCm39) |
missense |
probably benign |
0.04 |
R8013:Fhdc1
|
UTSW |
3 |
84,381,946 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R8014:Fhdc1
|
UTSW |
3 |
84,381,946 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R8139:Fhdc1
|
UTSW |
3 |
84,358,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R8264:Fhdc1
|
UTSW |
3 |
84,362,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R8384:Fhdc1
|
UTSW |
3 |
84,362,306 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8901:Fhdc1
|
UTSW |
3 |
84,352,874 (GRCm39) |
missense |
probably benign |
|
R9091:Fhdc1
|
UTSW |
3 |
84,352,290 (GRCm39) |
missense |
unknown |
|
R9270:Fhdc1
|
UTSW |
3 |
84,352,290 (GRCm39) |
missense |
unknown |
|
R9361:Fhdc1
|
UTSW |
3 |
84,356,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGTCCTTGGAGGCAGAATC -3'
(R):5'- GAGGAACTTCGGACACTTCG -3'
Sequencing Primer
(F):5'- AGAATCCTCGGAGCCACCTTTG -3'
(R):5'- TCGAGTGGCAGCATCAGTG -3'
|
Posted On |
2015-06-20 |