Incidental Mutation 'R7182:Fhdc1'
| ID |
559028 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhdc1
|
| Ensembl Gene |
ENSMUSG00000041842 |
| Gene Name |
FH2 domain containing 1 |
| Synonyms |
6330505N24Rik |
| MMRRC Submission |
045234-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.335)
|
| Stock # |
R7182 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
84442198-84480429 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 84448850 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 429
(T429I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091002]
[ENSMUST00000107689]
[ENSMUST00000194027]
|
| AlphaFold |
Q3ULZ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091002
AA Change: T429I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000088525
Gene: ENSMUSG00000041842
AA Change: T429I
| 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 damaging
Transcript: ENSMUST00000107689
AA Change: T429I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103317
Gene: ENSMUSG00000041842
AA Change: T429I
| 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: 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 |
0.2396 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
96% (70/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,849,714 (GRCm38) |
V323A |
unknown |
Het |
| AC117241.1 |
A |
G |
17: 7,352,688 (GRCm38) |
V158A |
unknown |
Het |
| Acadm |
A |
G |
3: 153,941,881 (GRCm38) |
|
probably null |
Het |
| Adcy10 |
T |
G |
1: 165,543,470 (GRCm38) |
|
probably null |
Het |
| Aldh6a1 |
C |
T |
12: 84,441,831 (GRCm38) |
A94T |
probably benign |
Het |
| Ano2 |
T |
A |
6: 125,790,293 (GRCm38) |
L229Q |
probably damaging |
Het |
| Cacna1h |
C |
T |
17: 25,377,655 (GRCm38) |
R1828H |
probably damaging |
Het |
| Ccdc33 |
A |
T |
9: 58,034,173 (GRCm38) |
|
probably null |
Het |
| Cep112 |
A |
C |
11: 108,682,844 (GRCm38) |
D6A |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,006,622 (GRCm38) |
F1373S |
unknown |
Het |
| Cog5 |
T |
C |
12: 31,685,708 (GRCm38) |
L158P |
probably damaging |
Het |
| Col6a3 |
G |
A |
1: 90,803,678 (GRCm38) |
Q1618* |
probably null |
Het |
| Dlg5 |
A |
G |
14: 24,244,856 (GRCm38) |
V3A |
|
Het |
| Dnah7a |
T |
A |
1: 53,620,461 (GRCm38) |
|
probably null |
Het |
| Dpp10 |
A |
T |
1: 123,341,151 (GRCm38) |
H716Q |
probably benign |
Het |
| Epor |
A |
G |
9: 21,963,329 (GRCm38) |
F35L |
probably benign |
Het |
| Ergic1 |
A |
T |
17: 26,654,882 (GRCm38) |
Y92F |
|
Het |
| Fam71a |
C |
T |
1: 191,163,351 (GRCm38) |
R365H |
probably damaging |
Het |
| Fam98a |
G |
A |
17: 75,539,018 (GRCm38) |
Q273* |
probably null |
Het |
| Fmnl2 |
T |
A |
2: 53,107,441 (GRCm38) |
L468Q |
unknown |
Het |
| Fmnl3 |
C |
T |
15: 99,321,782 (GRCm38) |
R695Q |
probably damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,920,506 (GRCm38) |
M271V |
probably damaging |
Het |
| Gk5 |
G |
T |
9: 96,119,526 (GRCm38) |
V26L |
possibly damaging |
Het |
| Gm14412 |
A |
C |
2: 177,315,615 (GRCm38) |
N162K |
probably benign |
Het |
| Gm3604 |
T |
C |
13: 62,371,875 (GRCm38) |
D22G |
probably damaging |
Het |
| Gm5565 |
G |
T |
5: 146,158,055 (GRCm38) |
H294N |
probably benign |
Het |
| Hsf2 |
T |
A |
10: 57,505,176 (GRCm38) |
D287E |
possibly damaging |
Het |
| Impdh2 |
G |
A |
9: 108,563,208 (GRCm38) |
R231H |
possibly damaging |
Het |
| Irak3 |
T |
C |
10: 120,166,511 (GRCm38) |
H234R |
probably damaging |
Het |
| Lrba |
GTTCCCTTC |
GTTC |
3: 86,741,458 (GRCm38) |
|
probably null |
Het |
| Lrch3 |
T |
A |
16: 32,993,779 (GRCm38) |
D551E |
probably benign |
Het |
| Manba |
A |
T |
3: 135,567,513 (GRCm38) |
N736I |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,412,653 (GRCm38) |
D234G |
possibly damaging |
Het |
| Mdk |
C |
A |
2: 91,930,852 (GRCm38) |
K121N |
unknown |
Het |
| Mfn1 |
T |
A |
3: 32,564,220 (GRCm38) |
L526Q |
probably damaging |
Het |
| Mfsd2b |
A |
G |
12: 4,866,157 (GRCm38) |
|
probably null |
Het |
| Mnat1 |
G |
T |
12: 73,230,678 (GRCm38) |
E233* |
probably null |
Het |
| Mtmr4 |
T |
C |
11: 87,604,605 (GRCm38) |
|
probably null |
Het |
| Mtrf1 |
A |
G |
14: 79,423,464 (GRCm38) |
E432G |
possibly damaging |
Het |
| Muc5b |
C |
T |
7: 141,842,645 (GRCm38) |
R165C |
unknown |
Het |
| Naip6 |
T |
A |
13: 100,316,149 (GRCm38) |
I135F |
probably benign |
Het |
| Nod2 |
A |
G |
8: 88,663,832 (GRCm38) |
T256A |
probably benign |
Het |
| Notch4 |
T |
A |
17: 34,583,499 (GRCm38) |
V1298E |
probably damaging |
Het |
| Nudc |
G |
T |
4: 133,534,465 (GRCm38) |
D169E |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 59,035,101 (GRCm38) |
I5602N |
probably damaging |
Het |
| Olfr1468-ps1 |
G |
A |
19: 13,375,844 (GRCm38) |
G294E |
unknown |
Het |
| Osbpl10 |
G |
A |
9: 115,067,251 (GRCm38) |
D18N |
probably damaging |
Het |
| Pigk |
G |
A |
3: 152,722,551 (GRCm38) |
V72I |
possibly damaging |
Het |
| Prl8a6 |
C |
T |
13: 27,437,170 (GRCm38) |
E26K |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,490,727 (GRCm38) |
Y318C |
possibly damaging |
Het |
| Rab13 |
A |
G |
3: 90,224,763 (GRCm38) |
D159G |
possibly damaging |
Het |
| Rgl2 |
T |
C |
17: 33,934,990 (GRCm38) |
F457L |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,759,757 (GRCm38) |
H1171R |
probably benign |
Het |
| Scn4a |
T |
A |
11: 106,330,308 (GRCm38) |
I842F |
probably benign |
Het |
| Scnm1 |
A |
T |
3: 95,133,854 (GRCm38) |
N14K |
possibly damaging |
Het |
| Serinc1 |
A |
T |
10: 57,524,361 (GRCm38) |
I137N |
probably benign |
Het |
| Slc30a3 |
A |
C |
5: 31,089,670 (GRCm38) |
M103R |
probably damaging |
Het |
| Slc30a3 |
T |
C |
5: 31,086,825 (GRCm38) |
Q371R |
probably benign |
Het |
| Slco1a1 |
A |
T |
6: 141,911,839 (GRCm38) |
C589S |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,656,930 (GRCm38) |
Y203C |
probably damaging |
Het |
| Spty2d1 |
A |
T |
7: 46,998,523 (GRCm38) |
D219E |
probably benign |
Het |
| Svep1 |
A |
T |
4: 58,043,991 (GRCm38) |
S3552T |
probably benign |
Het |
| Tmem62 |
A |
G |
2: 121,004,743 (GRCm38) |
I516M |
probably benign |
Het |
| Trim61 |
A |
T |
8: 65,013,614 (GRCm38) |
S332T |
probably damaging |
Het |
| Trmt10b |
A |
C |
4: 45,308,520 (GRCm38) |
T227P |
probably benign |
Het |
| Trpc3 |
T |
C |
3: 36,655,109 (GRCm38) |
Q406R |
probably benign |
Het |
| Ttc30b |
A |
T |
2: 75,937,949 (GRCm38) |
Y153* |
probably null |
Het |
| Ush2a |
A |
T |
1: 188,753,543 (GRCm38) |
Y2950F |
probably benign |
Het |
| Usp32 |
C |
T |
11: 85,040,170 (GRCm38) |
G478D |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 101,943,892 (GRCm38) |
L527P |
possibly damaging |
Het |
| Wdr73 |
A |
G |
7: 80,893,678 (GRCm38) |
V163A |
possibly damaging |
Het |
|
| Other mutations in Fhdc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00507:Fhdc1
|
APN |
3 |
84,448,800 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00556:Fhdc1
|
APN |
3 |
84,457,242 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL00951:Fhdc1
|
APN |
3 |
84,464,313 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL01744:Fhdc1
|
APN |
3 |
84,444,735 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL01754:Fhdc1
|
APN |
3 |
84,444,735 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL01762:Fhdc1
|
APN |
3 |
84,444,735 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL01764:Fhdc1
|
APN |
3 |
84,444,735 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL01769:Fhdc1
|
APN |
3 |
84,444,735 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL01778:Fhdc1
|
APN |
3 |
84,444,735 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL01779:Fhdc1
|
APN |
3 |
84,444,735 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL01781:Fhdc1
|
APN |
3 |
84,444,735 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL02243:Fhdc1
|
APN |
3 |
84,474,640 (GRCm38) |
start codon destroyed |
possibly damaging |
0.89 |
|
IGL02260:Fhdc1
|
APN |
3 |
84,444,735 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL02261:Fhdc1
|
APN |
3 |
84,444,735 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL02266:Fhdc1
|
APN |
3 |
84,444,735 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL02271:Fhdc1
|
APN |
3 |
84,444,735 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL02284:Fhdc1
|
APN |
3 |
84,444,735 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL02292:Fhdc1
|
APN |
3 |
84,444,735 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL02296:Fhdc1
|
APN |
3 |
84,444,735 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL02301:Fhdc1
|
APN |
3 |
84,444,735 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL02347:Fhdc1
|
APN |
3 |
84,444,735 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL02416:Fhdc1
|
APN |
3 |
84,445,228 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL03189:Fhdc1
|
APN |
3 |
84,455,061 (GRCm38) |
intron |
probably benign |
|
|
IGL03392:Fhdc1
|
APN |
3 |
84,444,519 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R0125:Fhdc1
|
UTSW |
3 |
84,445,545 (GRCm38) |
missense |
probably benign |
|
|
R0135:Fhdc1
|
UTSW |
3 |
84,445,618 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0255:Fhdc1
|
UTSW |
3 |
84,453,510 (GRCm38) |
intron |
probably benign |
|
|
R0401:Fhdc1
|
UTSW |
3 |
84,444,624 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1371:Fhdc1
|
UTSW |
3 |
84,445,003 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1727:Fhdc1
|
UTSW |
3 |
84,446,176 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R1769:Fhdc1
|
UTSW |
3 |
84,448,778 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1781:Fhdc1
|
UTSW |
3 |
84,448,804 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1840:Fhdc1
|
UTSW |
3 |
84,445,821 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R1970:Fhdc1
|
UTSW |
3 |
84,454,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2038:Fhdc1
|
UTSW |
3 |
84,444,561 (GRCm38) |
missense |
probably benign |
0.22 |
|
R2088:Fhdc1
|
UTSW |
3 |
84,474,726 (GRCm38) |
start gained |
probably benign |
|
|
R2256:Fhdc1
|
UTSW |
3 |
84,446,046 (GRCm38) |
missense |
probably benign |
|
|
R2939:Fhdc1
|
UTSW |
3 |
84,457,270 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R3813:Fhdc1
|
UTSW |
3 |
84,464,270 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4022:Fhdc1
|
UTSW |
3 |
84,445,102 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4175:Fhdc1
|
UTSW |
3 |
84,456,987 (GRCm38) |
intron |
probably benign |
|
|
R4243:Fhdc1
|
UTSW |
3 |
84,444,826 (GRCm38) |
missense |
probably benign |
0.42 |
|
R4245:Fhdc1
|
UTSW |
3 |
84,444,826 (GRCm38) |
missense |
probably benign |
0.42 |
|
R4290:Fhdc1
|
UTSW |
3 |
84,444,826 (GRCm38) |
missense |
probably benign |
0.42 |
|
R4291:Fhdc1
|
UTSW |
3 |
84,444,826 (GRCm38) |
missense |
probably benign |
0.42 |
|
R4292:Fhdc1
|
UTSW |
3 |
84,444,826 (GRCm38) |
missense |
probably benign |
0.42 |
|
R4293:Fhdc1
|
UTSW |
3 |
84,444,826 (GRCm38) |
missense |
probably benign |
0.42 |
|
R4294:Fhdc1
|
UTSW |
3 |
84,444,826 (GRCm38) |
missense |
probably benign |
0.42 |
|
R4295:Fhdc1
|
UTSW |
3 |
84,444,826 (GRCm38) |
missense |
probably benign |
0.42 |
|
R4334:Fhdc1
|
UTSW |
3 |
84,444,826 (GRCm38) |
missense |
probably benign |
0.42 |
|
R4335:Fhdc1
|
UTSW |
3 |
84,444,826 (GRCm38) |
missense |
probably benign |
0.42 |
|
R4342:Fhdc1
|
UTSW |
3 |
84,444,826 (GRCm38) |
missense |
probably benign |
0.42 |
|
R4344:Fhdc1
|
UTSW |
3 |
84,444,826 (GRCm38) |
missense |
probably benign |
0.42 |
|
R4354:Fhdc1
|
UTSW |
3 |
84,444,826 (GRCm38) |
missense |
probably benign |
0.42 |
|
R4550:Fhdc1
|
UTSW |
3 |
84,445,176 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4626:Fhdc1
|
UTSW |
3 |
84,474,250 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4925:Fhdc1
|
UTSW |
3 |
84,453,533 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5155:Fhdc1
|
UTSW |
3 |
84,446,150 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5588:Fhdc1
|
UTSW |
3 |
84,465,476 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6043:Fhdc1
|
UTSW |
3 |
84,448,886 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6063:Fhdc1
|
UTSW |
3 |
84,446,029 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6652:Fhdc1
|
UTSW |
3 |
84,464,324 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6706:Fhdc1
|
UTSW |
3 |
84,446,422 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6783:Fhdc1
|
UTSW |
3 |
84,445,527 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6984:Fhdc1
|
UTSW |
3 |
84,444,516 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7299:Fhdc1
|
UTSW |
3 |
84,444,540 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7574:Fhdc1
|
UTSW |
3 |
84,446,131 (GRCm38) |
missense |
probably benign |
|
|
R7765:Fhdc1
|
UTSW |
3 |
84,444,599 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8013:Fhdc1
|
UTSW |
3 |
84,474,639 (GRCm38) |
start codon destroyed |
probably null |
0.99 |
|
R8014:Fhdc1
|
UTSW |
3 |
84,474,639 (GRCm38) |
start codon destroyed |
probably null |
0.99 |
|
R8139:Fhdc1
|
UTSW |
3 |
84,451,483 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8264:Fhdc1
|
UTSW |
3 |
84,455,032 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8384:Fhdc1
|
UTSW |
3 |
84,454,999 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8901:Fhdc1
|
UTSW |
3 |
84,445,567 (GRCm38) |
missense |
probably benign |
|
|
R9091:Fhdc1
|
UTSW |
3 |
84,444,983 (GRCm38) |
missense |
unknown |
|
|
R9270:Fhdc1
|
UTSW |
3 |
84,444,983 (GRCm38) |
missense |
unknown |
|
|
R9361:Fhdc1
|
UTSW |
3 |
84,448,833 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAGGCAGAGGACTAGGTC -3'
(R):5'- TAGGAGGTCGCCTTGTTCCC -3'
Sequencing Primer
(F):5'- TCAGTAAGCAGGAAAATGAAAATCCC -3'
(R):5'- AGGTCGCCTTGTTCCCTTGAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation