Incidental Mutation 'R5155:Fhdc1'
| ID |
396638 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhdc1
|
| Ensembl Gene |
ENSMUSG00000041842 |
| Gene Name |
FH2 domain containing 1 |
| Synonyms |
6330505N24Rik |
| MMRRC Submission |
042737-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.327)
|
| Stock # |
R5155 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
84349505-84387736 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 84353457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 589
(Q589H)
|
| 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: Q589H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000088525
Gene: ENSMUSG00000041842
AA Change: Q589H
| 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: Q589H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000103317
Gene: ENSMUSG00000041842
AA Change: Q589H
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,482,447 (GRCm39) |
V4326A |
probably damaging |
Het |
| Actn4 |
A |
G |
7: 28,661,442 (GRCm39) |
|
probably null |
Het |
| Adamts8 |
A |
G |
9: 30,865,844 (GRCm39) |
D464G |
probably benign |
Het |
| Adss1 |
T |
C |
12: 112,604,642 (GRCm39) |
I366T |
probably damaging |
Het |
| Alox12e |
T |
C |
11: 70,207,081 (GRCm39) |
D575G |
possibly damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,817,489 (GRCm39) |
M73K |
probably benign |
Het |
| Ap4e1 |
A |
G |
2: 126,905,289 (GRCm39) |
T987A |
probably benign |
Het |
| Banp |
A |
C |
8: 122,727,759 (GRCm39) |
S318R |
probably damaging |
Het |
| Bcas1 |
T |
C |
2: 170,260,538 (GRCm39) |
H47R |
probably damaging |
Het |
| Brwd1 |
G |
T |
16: 95,803,993 (GRCm39) |
S2524* |
probably null |
Het |
| Btbd8 |
T |
C |
5: 107,638,569 (GRCm39) |
I323T |
probably damaging |
Het |
| Cand2 |
T |
A |
6: 115,769,219 (GRCm39) |
D676E |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,867,755 (GRCm39) |
H224Q |
probably benign |
Het |
| Ccdc138 |
A |
T |
10: 58,343,394 (GRCm39) |
Y83F |
probably benign |
Het |
| Ccdc162 |
A |
T |
10: 41,429,576 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
A |
C |
10: 41,455,147 (GRCm39) |
S396A |
probably damaging |
Het |
| Ces1e |
A |
T |
8: 93,928,034 (GRCm39) |
*562R |
probably null |
Het |
| Clstn2 |
T |
A |
9: 97,338,484 (GRCm39) |
M892L |
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,345,264 (GRCm39) |
T2673A |
possibly damaging |
Het |
| Cstf3 |
A |
G |
2: 104,482,830 (GRCm39) |
N326S |
probably benign |
Het |
| Cux1 |
G |
A |
5: 136,594,295 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
T |
G |
9: 86,922,456 (GRCm39) |
M155R |
probably benign |
Het |
| D130043K22Rik |
A |
G |
13: 25,056,273 (GRCm39) |
D535G |
probably damaging |
Het |
| Dnah2 |
G |
A |
11: 69,313,362 (GRCm39) |
P4266S |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,682,654 (GRCm39) |
N272I |
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,731,715 (GRCm39) |
Y779C |
possibly damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,854,054 (GRCm39) |
N507K |
probably benign |
Het |
| Elavl4 |
T |
C |
4: 110,149,833 (GRCm39) |
Q3R |
probably null |
Het |
| Engase |
T |
G |
11: 118,372,107 (GRCm39) |
I133S |
probably benign |
Het |
| Ercc5 |
T |
C |
1: 44,219,782 (GRCm39) |
V1018A |
probably damaging |
Het |
| Ext1 |
C |
A |
15: 52,939,213 (GRCm39) |
W612L |
probably damaging |
Het |
| Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
| Fam8a1 |
G |
A |
13: 46,827,038 (GRCm39) |
A270T |
probably benign |
Het |
| Gatm |
G |
A |
2: 122,440,334 (GRCm39) |
T35I |
probably benign |
Het |
| Gcgr |
T |
C |
11: 120,427,872 (GRCm39) |
I271T |
probably benign |
Het |
| Gm527 |
T |
A |
12: 64,970,381 (GRCm39) |
Y239N |
probably damaging |
Het |
| H2-Ab1 |
A |
G |
17: 34,486,358 (GRCm39) |
H139R |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,877,574 (GRCm39) |
R4547Q |
possibly damaging |
Het |
| Itga1 |
A |
T |
13: 115,171,839 (GRCm39) |
S89T |
probably benign |
Het |
| Kash5 |
C |
A |
7: 44,839,078 (GRCm39) |
E53* |
probably null |
Het |
| Katnip |
A |
G |
7: 125,471,356 (GRCm39) |
T1486A |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,258,607 (GRCm39) |
M1365V |
probably benign |
Het |
| Lrp1b |
A |
C |
2: 41,618,634 (GRCm39) |
|
probably null |
Het |
| Map1a |
G |
A |
2: 121,132,867 (GRCm39) |
A990T |
probably damaging |
Het |
| Micall2 |
C |
A |
5: 139,695,986 (GRCm39) |
L784F |
probably damaging |
Het |
| Mmp9 |
T |
C |
2: 164,790,986 (GRCm39) |
|
probably null |
Het |
| Mrps7 |
T |
A |
11: 115,495,655 (GRCm39) |
Y64* |
probably null |
Het |
| Mslnl |
C |
T |
17: 25,957,942 (GRCm39) |
Q62* |
probably null |
Het |
| Nfil3 |
A |
G |
13: 53,122,616 (GRCm39) |
L96P |
probably damaging |
Het |
| Or2f1 |
A |
G |
6: 42,721,748 (GRCm39) |
Y259C |
probably damaging |
Het |
| Phf3 |
T |
C |
1: 30,863,457 (GRCm39) |
D756G |
possibly damaging |
Het |
| Plxnd1 |
C |
T |
6: 115,935,949 (GRCm39) |
|
probably null |
Het |
| Prickle4 |
C |
T |
17: 48,000,982 (GRCm39) |
|
probably null |
Het |
| Prr9 |
T |
A |
3: 92,030,356 (GRCm39) |
T95S |
possibly damaging |
Het |
| Prrc2a |
A |
G |
17: 35,379,067 (GRCm39) |
|
probably null |
Het |
| Prrt3 |
A |
G |
6: 113,474,520 (GRCm39) |
|
probably null |
Het |
| Psme4 |
A |
T |
11: 30,826,806 (GRCm39) |
Y1775F |
probably damaging |
Het |
| Pum2 |
T |
C |
12: 8,763,572 (GRCm39) |
V243A |
possibly damaging |
Het |
| Rnf32 |
T |
C |
5: 29,408,145 (GRCm39) |
S125P |
probably damaging |
Het |
| Rnf8 |
A |
G |
17: 29,845,604 (GRCm39) |
Y65C |
probably damaging |
Het |
| Rph3a |
T |
C |
5: 121,086,833 (GRCm39) |
T456A |
possibly damaging |
Het |
| Scaper |
T |
A |
9: 55,463,370 (GRCm39) |
Q854L |
probably null |
Het |
| Sez6l2 |
T |
C |
7: 126,561,545 (GRCm39) |
S472P |
probably damaging |
Het |
| Spsb3 |
T |
C |
17: 25,105,969 (GRCm39) |
|
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,080,427 (GRCm39) |
D40G |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,437,408 (GRCm39) |
N1389D |
probably benign |
Het |
| Taf4b |
G |
T |
18: 14,963,152 (GRCm39) |
A631S |
probably benign |
Het |
| Tcstv1b |
T |
C |
13: 120,635,089 (GRCm39) |
S124P |
probably benign |
Het |
| Tigd4 |
G |
A |
3: 84,501,970 (GRCm39) |
V296M |
possibly damaging |
Het |
| Tsc22d2 |
T |
A |
3: 58,324,737 (GRCm39) |
|
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,315,194 (GRCm39) |
|
probably null |
Het |
| Vmn2r6 |
T |
G |
3: 64,445,935 (GRCm39) |
N597H |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,248,026 (GRCm39) |
S1076R |
possibly damaging |
Het |
| Zfp64 |
T |
A |
2: 168,748,885 (GRCm39) |
Q44L |
probably benign |
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 |
|
R4290: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 |
|
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'- TGTGACCAACTCATGCTCCC -3'
(R):5'- GCTAGCTAAGACAGGCACAG -3'
Sequencing Primer
(F):5'- TTTGTGTGGGACCCAAGCC -3'
(R):5'- AGAAGACCTGCCCTCCTTC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation