Incidental Mutation 'R2939:Fhdc1'
ID |
264555 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fhdc1
|
Ensembl Gene |
ENSMUSG00000041842 |
Gene Name |
FH2 domain containing 1 |
Synonyms |
6330505N24Rik |
MMRRC Submission |
040516-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.327)
|
Stock # |
R2939 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
84349505-84387736 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84364577 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 223
(V223A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103317
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091002]
[ENSMUST00000107689]
[ENSMUST00000194027]
|
AlphaFold |
Q3ULZ2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091002
AA Change: V223A
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000088525 Gene: ENSMUSG00000041842 AA Change: V223A
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 |
possibly damaging
Transcript: ENSMUST00000107689
AA Change: V223A
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000103317 Gene: ENSMUSG00000041842 AA Change: V223A
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 |
0.1454 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
Validation Efficiency |
98% (62/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl11 |
T |
C |
9: 107,808,409 (GRCm39) |
Y911H |
possibly damaging |
Het |
Arhgef26 |
A |
C |
3: 62,288,331 (GRCm39) |
K467T |
possibly damaging |
Het |
Armcx6 |
A |
T |
X: 133,650,625 (GRCm39) |
W69R |
probably damaging |
Het |
Asl |
T |
C |
5: 130,042,245 (GRCm39) |
Y277C |
probably damaging |
Het |
Atm |
T |
C |
9: 53,406,011 (GRCm39) |
Y1219C |
probably damaging |
Het |
Azin2 |
C |
T |
4: 128,828,397 (GRCm39) |
C270Y |
probably benign |
Het |
Brsk1 |
A |
T |
7: 4,711,139 (GRCm39) |
I545F |
possibly damaging |
Het |
Carm1 |
C |
A |
9: 21,490,692 (GRCm39) |
|
probably null |
Het |
Cfap410 |
A |
G |
10: 77,817,507 (GRCm39) |
N78S |
probably benign |
Het |
Cfap69 |
G |
A |
5: 5,694,432 (GRCm39) |
A143V |
probably damaging |
Het |
Cldn14 |
T |
C |
16: 93,716,192 (GRCm39) |
K218R |
probably damaging |
Het |
Col5a3 |
T |
C |
9: 20,706,954 (GRCm39) |
K714R |
unknown |
Het |
Crybg2 |
A |
G |
4: 133,809,745 (GRCm39) |
H1517R |
possibly damaging |
Het |
Dagla |
A |
C |
19: 10,233,728 (GRCm39) |
F382C |
probably damaging |
Het |
Dixdc1 |
G |
A |
9: 50,622,259 (GRCm39) |
A25V |
probably damaging |
Het |
Dock6 |
A |
G |
9: 21,750,496 (GRCm39) |
F473L |
possibly damaging |
Het |
Eif5 |
T |
C |
12: 111,506,713 (GRCm39) |
C102R |
probably damaging |
Het |
Faiml |
A |
G |
9: 99,114,527 (GRCm39) |
C121R |
probably damaging |
Het |
Garin4 |
T |
C |
1: 190,896,103 (GRCm39) |
D180G |
possibly damaging |
Het |
Gpatch8 |
A |
G |
11: 102,399,010 (GRCm39) |
V74A |
unknown |
Het |
Haghl |
A |
G |
17: 26,004,060 (GRCm39) |
V8A |
possibly damaging |
Het |
Ksr1 |
A |
G |
11: 78,936,007 (GRCm39) |
|
probably null |
Het |
Lama5 |
A |
C |
2: 179,840,747 (GRCm39) |
Y584D |
probably damaging |
Het |
Lgi4 |
C |
T |
7: 30,767,253 (GRCm39) |
R427* |
probably null |
Het |
Lrriq1 |
T |
A |
10: 102,980,750 (GRCm39) |
S1462C |
probably damaging |
Het |
Map3k4 |
C |
T |
17: 12,480,157 (GRCm39) |
E682K |
probably damaging |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Nherf1 |
C |
T |
11: 115,071,270 (GRCm39) |
R335C |
probably damaging |
Het |
Nmnat2 |
C |
A |
1: 152,950,474 (GRCm39) |
S53Y |
probably damaging |
Het |
Or8b12i |
C |
A |
9: 20,082,061 (GRCm39) |
G269W |
probably benign |
Het |
Or8g34 |
G |
A |
9: 39,373,226 (GRCm39) |
M166I |
probably benign |
Het |
Pcsk7 |
C |
T |
9: 45,827,322 (GRCm39) |
A363V |
probably damaging |
Het |
Pdrg1 |
C |
T |
2: 152,854,355 (GRCm39) |
G62R |
probably damaging |
Het |
Pdzd7 |
A |
G |
19: 45,033,862 (GRCm39) |
I74T |
possibly damaging |
Het |
Plcb4 |
T |
C |
2: 135,781,123 (GRCm39) |
|
probably benign |
Het |
Pramel28 |
A |
G |
4: 143,693,247 (GRCm39) |
V77A |
probably benign |
Het |
Rnf25 |
A |
G |
1: 74,635,047 (GRCm39) |
V135A |
possibly damaging |
Het |
Rph3a |
A |
G |
5: 121,118,212 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Senp6 |
G |
A |
9: 80,051,124 (GRCm39) |
A1134T |
probably benign |
Het |
Slc1a6 |
G |
T |
10: 78,650,448 (GRCm39) |
*562L |
probably null |
Het |
Slc26a6 |
G |
A |
9: 108,734,236 (GRCm39) |
V206I |
probably benign |
Het |
Slc45a3 |
A |
G |
1: 131,905,637 (GRCm39) |
E206G |
probably damaging |
Het |
Smc1a |
T |
A |
X: 150,816,695 (GRCm39) |
Y516N |
probably damaging |
Het |
Smpd3 |
A |
G |
8: 106,984,039 (GRCm39) |
V560A |
probably benign |
Het |
Spata31g1 |
A |
G |
4: 42,972,946 (GRCm39) |
K760E |
probably benign |
Het |
Ssc4d |
T |
C |
5: 135,994,578 (GRCm39) |
T51A |
possibly damaging |
Het |
Suco |
A |
G |
1: 161,676,220 (GRCm39) |
I386T |
probably damaging |
Het |
Tecta |
A |
T |
9: 42,289,290 (GRCm39) |
M425K |
possibly damaging |
Het |
Tmprss11e |
G |
A |
5: 86,869,266 (GRCm39) |
R96W |
probably damaging |
Het |
Trim63 |
T |
C |
4: 134,050,308 (GRCm39) |
|
probably benign |
Het |
Trpv1 |
A |
G |
11: 73,145,675 (GRCm39) |
K403R |
probably damaging |
Het |
Ttc39d |
A |
G |
17: 80,524,982 (GRCm39) |
Y547C |
probably damaging |
Het |
Unc79 |
C |
T |
12: 102,957,684 (GRCm39) |
T33I |
probably damaging |
Het |
Usp47 |
G |
A |
7: 111,681,743 (GRCm39) |
S518N |
probably damaging |
Het |
Vmn2r22 |
T |
A |
6: 123,614,594 (GRCm39) |
D332V |
probably damaging |
Het |
Vmn2r55 |
A |
G |
7: 12,385,832 (GRCm39) |
L716P |
probably damaging |
Het |
Zfp558 |
T |
C |
9: 18,367,924 (GRCm39) |
N288S |
possibly damaging |
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 |
|
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 |
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'- AGCACCATGGCTTCAATCCG -3'
(R):5'- ATGCTTGGTTAGTCGCTCAG -3'
Sequencing Primer
(F):5'- CTTCAATCCGAAGTGAATAGCTG -3'
(R):5'- GGGCTCACTCCCAGATATAAAGATG -3'
|
Posted On |
2015-02-05 |