Incidental Mutation 'R0135:Fhdc1'
| ID |
21862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhdc1
|
| Ensembl Gene |
ENSMUSG00000041842 |
| Gene Name |
FH2 domain containing 1 |
| Synonyms |
6330505N24Rik |
| MMRRC Submission |
038420-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.323)
|
| Stock # |
R0135 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
3 |
| Chromosomal Location |
84349505-84387736 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 84352925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 767
(Y767N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091002]
[ENSMUST00000107689]
[ENSMUST00000194027]
|
| AlphaFold |
Q3ULZ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091002
AA Change: Y767N
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000088525
Gene: ENSMUSG00000041842
AA Change: Y767N
| 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: Y767N
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103317
Gene: ENSMUSG00000041842
AA Change: Y767N
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.6%
|
| Validation Efficiency |
100% (80/80) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
G |
16: 90,852,515 (GRCm39) |
F207S |
probably damaging |
Het |
| Abhd8 |
T |
A |
8: 71,910,718 (GRCm39) |
K363N |
probably benign |
Het |
| Adam11 |
T |
A |
11: 102,667,399 (GRCm39) |
V653E |
probably damaging |
Het |
| Adam18 |
T |
C |
8: 25,155,558 (GRCm39) |
S154G |
possibly damaging |
Het |
| Adamts1 |
T |
C |
16: 85,595,591 (GRCm39) |
|
probably benign |
Het |
| Afm |
G |
T |
5: 90,698,181 (GRCm39) |
V528L |
probably benign |
Het |
| Alox12b |
C |
T |
11: 69,053,574 (GRCm39) |
H145Y |
probably benign |
Het |
| Ankmy2 |
C |
A |
12: 36,220,434 (GRCm39) |
|
probably benign |
Het |
| Aox3 |
G |
A |
1: 58,164,247 (GRCm39) |
|
probably benign |
Het |
| Arhgap28 |
T |
C |
17: 68,171,583 (GRCm39) |
D396G |
probably damaging |
Het |
| B430203G13Rik |
T |
C |
12: 17,974,489 (GRCm39) |
|
noncoding transcript |
Het |
| Bean1 |
C |
T |
8: 104,943,807 (GRCm39) |
P121S |
probably damaging |
Het |
| Bok |
T |
C |
1: 93,614,229 (GRCm39) |
S21P |
probably damaging |
Het |
| Brwd1 |
A |
C |
16: 95,848,304 (GRCm39) |
N572K |
probably damaging |
Het |
| C5ar1 |
A |
T |
7: 15,982,864 (GRCm39) |
V52E |
probably damaging |
Het |
| Cblif |
G |
T |
19: 11,735,118 (GRCm39) |
C246F |
probably damaging |
Het |
| Cdr2l |
C |
A |
11: 115,284,497 (GRCm39) |
P278T |
probably damaging |
Het |
| Cnga4 |
T |
A |
7: 105,056,055 (GRCm39) |
I219N |
probably damaging |
Het |
| Cpne2 |
C |
T |
8: 95,281,553 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,085,379 (GRCm39) |
S1057P |
possibly damaging |
Het |
| Def8 |
G |
A |
8: 124,183,234 (GRCm39) |
A278T |
probably damaging |
Het |
| Dgcr2 |
A |
G |
16: 17,676,306 (GRCm39) |
S152P |
probably damaging |
Het |
| Dstyk |
A |
T |
1: 132,390,672 (GRCm39) |
D828V |
probably damaging |
Het |
| Eml2 |
T |
C |
7: 18,937,877 (GRCm39) |
S582P |
probably damaging |
Het |
| Engase |
T |
C |
11: 118,375,304 (GRCm39) |
Y359H |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,918,073 (GRCm39) |
D1450G |
probably damaging |
Het |
| Fbxw8 |
A |
T |
5: 118,208,552 (GRCm39) |
I467N |
probably damaging |
Het |
| Flii |
T |
C |
11: 60,614,204 (GRCm39) |
D105G |
probably damaging |
Het |
| Gaa |
C |
T |
11: 119,169,716 (GRCm39) |
T590I |
probably benign |
Het |
| Gabrr1 |
T |
A |
4: 33,160,224 (GRCm39) |
S303T |
probably damaging |
Het |
| Garre1 |
T |
C |
7: 33,945,382 (GRCm39) |
I499M |
probably damaging |
Het |
| Glp1r |
A |
G |
17: 31,143,551 (GRCm39) |
I196V |
probably benign |
Het |
| Grm6 |
G |
A |
11: 50,744,050 (GRCm39) |
E174K |
probably damaging |
Het |
| Helz2 |
A |
C |
2: 180,874,062 (GRCm39) |
L2144R |
probably damaging |
Het |
| Itpr1 |
A |
T |
6: 108,465,443 (GRCm39) |
|
probably benign |
Het |
| Kcns1 |
A |
T |
2: 164,006,875 (GRCm39) |
S363T |
possibly damaging |
Het |
| Kif13a |
A |
T |
13: 46,947,419 (GRCm39) |
V855E |
probably damaging |
Het |
| Krt42 |
T |
C |
11: 100,153,985 (GRCm39) |
T424A |
possibly damaging |
Het |
| Lct |
A |
T |
1: 128,212,860 (GRCm39) |
F1931Y |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,159,251 (GRCm39) |
V1563E |
probably damaging |
Het |
| Lrrc37 |
C |
A |
11: 103,508,873 (GRCm39) |
|
probably benign |
Het |
| Lzts2 |
T |
C |
19: 45,014,626 (GRCm39) |
|
probably benign |
Het |
| Mamdc4 |
C |
T |
2: 25,456,932 (GRCm39) |
R615Q |
possibly damaging |
Het |
| Mei1 |
C |
T |
15: 81,956,170 (GRCm39) |
Q133* |
probably null |
Het |
| Mif4gd |
T |
C |
11: 115,499,291 (GRCm39) |
E197G |
probably damaging |
Het |
| Ncdn |
A |
T |
4: 126,640,462 (GRCm39) |
S544T |
probably benign |
Het |
| Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
| Or52a5 |
T |
A |
7: 103,426,970 (GRCm39) |
D194V |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,464,663 (GRCm39) |
T114A |
probably benign |
Het |
| Pigk |
G |
T |
3: 152,450,343 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,784,045 (GRCm39) |
F197Y |
possibly damaging |
Het |
| Pld5 |
A |
T |
1: 175,798,155 (GRCm39) |
F415I |
probably damaging |
Het |
| Pnpla5 |
A |
G |
15: 83,998,150 (GRCm39) |
L364P |
probably damaging |
Het |
| Prrc2c |
G |
A |
1: 162,543,052 (GRCm39) |
|
probably benign |
Het |
| Rab32 |
C |
T |
10: 10,426,584 (GRCm39) |
D121N |
probably damaging |
Het |
| Rab44 |
A |
T |
17: 29,357,106 (GRCm39) |
T79S |
probably benign |
Het |
| Reln |
G |
T |
5: 22,333,647 (GRCm39) |
N258K |
probably damaging |
Het |
| Retsat |
A |
G |
6: 72,579,755 (GRCm39) |
T177A |
probably damaging |
Het |
| Serpinf2 |
T |
A |
11: 75,327,219 (GRCm39) |
H236L |
probably damaging |
Het |
| Slc26a6 |
A |
T |
9: 108,737,794 (GRCm39) |
|
probably benign |
Het |
| Slitrk1 |
T |
A |
14: 109,149,061 (GRCm39) |
E550V |
probably benign |
Het |
| Smarcd3 |
A |
T |
5: 24,800,497 (GRCm39) |
|
probably benign |
Het |
| Spdye4a |
A |
C |
5: 143,210,857 (GRCm39) |
|
probably null |
Het |
| Susd2 |
C |
T |
10: 75,474,348 (GRCm39) |
G572D |
probably damaging |
Het |
| Tcaf3 |
C |
T |
6: 42,566,692 (GRCm39) |
R799K |
probably benign |
Het |
| Tg |
A |
G |
15: 66,566,719 (GRCm39) |
S1256G |
probably benign |
Het |
| Them4 |
A |
T |
3: 94,230,877 (GRCm39) |
|
probably benign |
Het |
| Tmem210 |
C |
T |
2: 25,178,480 (GRCm39) |
A47V |
probably damaging |
Het |
| Tnfrsf1b |
A |
G |
4: 144,955,616 (GRCm39) |
Y47H |
probably benign |
Het |
| Tnik |
T |
G |
3: 28,661,394 (GRCm39) |
N598K |
possibly damaging |
Het |
| Ttc3 |
A |
G |
16: 94,263,127 (GRCm39) |
N1498D |
possibly damaging |
Het |
| Ttll4 |
C |
A |
1: 74,719,087 (GRCm39) |
H313N |
possibly damaging |
Het |
| Vipr2 |
A |
G |
12: 116,106,447 (GRCm39) |
I348V |
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,758,129 (GRCm39) |
V2A |
probably damaging |
Het |
| Vps72 |
G |
A |
3: 95,026,508 (GRCm39) |
R151K |
probably damaging |
Het |
| Zfp106 |
A |
G |
2: 120,350,968 (GRCm39) |
V1561A |
probably damaging |
Het |
| Zfp658 |
C |
A |
7: 43,223,019 (GRCm39) |
Y431* |
probably null |
Het |
| Zkscan2 |
T |
C |
7: 123,079,864 (GRCm39) |
K698E |
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 |
|
|
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 |
|
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'- TGGATTTTGGAGCAGGAACCTCCC -3'
(R):5'- TCTGTCCCACAAAGCTGCCATC -3'
Sequencing Primer
(F):5'- CCAGGGGGGCTGGAAAC -3'
(R):5'- AAAGCTGCCATCTCCAGGG -3'
|
| Posted On |
2013-04-12 |
Incidental Mutation