Incidental Mutation 'R7299:Fhdc1'
| ID |
566841 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhdc1
|
| Ensembl Gene |
ENSMUSG00000041842 |
| Gene Name |
FH2 domain containing 1 |
| Synonyms |
6330505N24Rik |
| MMRRC Submission |
045403-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.323)
|
| Stock # |
R7299 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
84349505-84387736 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84351847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1126
(E1126G)
|
| 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: E1126G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000088525
Gene: ENSMUSG00000041842
AA Change: E1126G
| 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: E1126G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103317
Gene: ENSMUSG00000041842
AA Change: E1126G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
99% (71/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
A |
C |
3: 121,473,095 (GRCm39) |
K83N |
unknown |
Het |
| Abca13 |
A |
T |
11: 9,244,649 (GRCm39) |
N2171Y |
probably damaging |
Het |
| Abcc8 |
G |
A |
7: 45,754,922 (GRCm39) |
T1532I |
possibly damaging |
Het |
| Abtb2 |
A |
T |
2: 103,532,769 (GRCm39) |
|
probably null |
Het |
| Actmap |
G |
A |
7: 26,900,548 (GRCm39) |
A176T |
probably damaging |
Het |
| Agk |
A |
T |
6: 40,306,451 (GRCm39) |
T7S |
possibly damaging |
Het |
| Akap9 |
C |
A |
5: 4,082,696 (GRCm39) |
T1940K |
probably damaging |
Het |
| Ccdc8 |
A |
G |
7: 16,729,956 (GRCm39) |
T482A |
unknown |
Het |
| Cd2ap |
G |
A |
17: 43,140,904 (GRCm39) |
R212* |
probably null |
Het |
| Cenpt |
G |
A |
8: 106,576,536 (GRCm39) |
Q45* |
probably null |
Het |
| Cnga1 |
T |
C |
5: 72,762,775 (GRCm39) |
I246M |
probably benign |
Het |
| Cnot7 |
A |
G |
8: 40,960,586 (GRCm39) |
I74T |
probably damaging |
Het |
| Cog6 |
T |
C |
3: 52,909,928 (GRCm39) |
S275G |
probably benign |
Het |
| Csmd2 |
C |
A |
4: 128,422,055 (GRCm39) |
D2797E |
|
Het |
| Ddx24 |
A |
G |
12: 103,385,709 (GRCm39) |
M298T |
possibly damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,910,019 (GRCm39) |
S185T |
probably benign |
Het |
| Ergic2 |
T |
A |
6: 148,089,610 (GRCm39) |
Y249F |
probably damaging |
Het |
| Exoc1 |
T |
A |
5: 76,690,006 (GRCm39) |
M182K |
probably damaging |
Het |
| Gabrr2 |
T |
A |
4: 33,095,284 (GRCm39) |
M391K |
probably benign |
Het |
| Gap43 |
T |
C |
16: 42,112,615 (GRCm39) |
K49E |
probably damaging |
Het |
| Gata4 |
T |
A |
14: 63,441,191 (GRCm39) |
T276S |
probably damaging |
Het |
| Gca |
C |
T |
2: 62,520,320 (GRCm39) |
P160L |
probably benign |
Het |
| Ghdc |
C |
T |
11: 100,658,942 (GRCm39) |
V397I |
possibly damaging |
Het |
| Gm3409 |
T |
A |
5: 146,476,357 (GRCm39) |
D169E |
probably benign |
Het |
| Gtf3c3 |
G |
A |
1: 54,456,867 (GRCm39) |
P511L |
probably benign |
Het |
| Hal |
T |
C |
10: 93,328,423 (GRCm39) |
V233A |
probably benign |
Het |
| Ighv1-4 |
T |
C |
12: 114,450,908 (GRCm39) |
I67V |
probably benign |
Het |
| Itgb8 |
T |
C |
12: 119,166,196 (GRCm39) |
N112D |
probably benign |
Het |
| Klhl38 |
G |
A |
15: 58,186,376 (GRCm39) |
R118W |
probably damaging |
Het |
| Krtap26-1 |
T |
C |
16: 88,444,132 (GRCm39) |
Y163C |
possibly damaging |
Het |
| Kyat1 |
T |
C |
2: 30,082,007 (GRCm39) |
D44G |
probably benign |
Het |
| Mob1a |
G |
A |
6: 83,315,431 (GRCm39) |
|
probably null |
Het |
| Mst1r |
G |
T |
9: 107,791,989 (GRCm39) |
A842S |
possibly damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,403,419 (GRCm39) |
|
probably null |
Het |
| Nos1 |
A |
T |
5: 118,005,970 (GRCm39) |
D230V |
possibly damaging |
Het |
| Nppb |
T |
C |
4: 148,070,780 (GRCm39) |
S52P |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,222,635 (GRCm39) |
K545E |
probably damaging |
Het |
| Olfml3 |
T |
C |
3: 103,643,176 (GRCm39) |
K402E |
probably damaging |
Het |
| Or1s2 |
G |
A |
19: 13,758,688 (GRCm39) |
W235* |
probably null |
Het |
| Pcdha3 |
G |
A |
18: 37,079,977 (GRCm39) |
E240K |
possibly damaging |
Het |
| Podxl |
G |
T |
6: 31,501,371 (GRCm39) |
P395T |
probably damaging |
Het |
| Prr5l |
T |
A |
2: 101,547,631 (GRCm39) |
D298V |
probably damaging |
Het |
| Ptpro |
G |
A |
6: 137,418,142 (GRCm39) |
|
probably null |
Het |
| Rad9b |
A |
G |
5: 122,490,677 (GRCm39) |
V13A |
possibly damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,047,885 (GRCm39) |
K365R |
probably benign |
Het |
| Reep1 |
A |
T |
6: 71,738,373 (GRCm39) |
I44L |
probably benign |
Het |
| Ripor2 |
T |
C |
13: 24,908,984 (GRCm39) |
I1034T |
possibly damaging |
Het |
| Rtn4ip1 |
T |
C |
10: 43,812,016 (GRCm39) |
Y338H |
probably damaging |
Het |
| Shisa5 |
G |
T |
9: 108,883,952 (GRCm39) |
|
probably benign |
Het |
| Snx24 |
G |
T |
18: 53,473,244 (GRCm39) |
V63F |
probably damaging |
Het |
| Svep1 |
G |
A |
4: 58,046,587 (GRCm39) |
Q3515* |
probably null |
Het |
| Tfap2a |
T |
C |
13: 40,874,784 (GRCm39) |
K276E |
probably damaging |
Het |
| Tmem158 |
C |
A |
9: 123,089,366 (GRCm39) |
S82I |
probably damaging |
Het |
| Tmem263 |
T |
A |
10: 84,950,261 (GRCm39) |
|
probably null |
Het |
| Tmtc3 |
G |
T |
10: 100,283,336 (GRCm39) |
H740N |
not run |
Het |
| Tnrc6a |
A |
C |
7: 122,770,136 (GRCm39) |
N642T |
probably benign |
Het |
| Top3a |
A |
T |
11: 60,638,974 (GRCm39) |
F559I |
probably damaging |
Het |
| Trak1 |
A |
G |
9: 121,280,929 (GRCm39) |
|
probably null |
Het |
| Trpc4 |
T |
C |
3: 54,225,048 (GRCm39) |
I799T |
possibly damaging |
Het |
| Ttc7 |
T |
C |
17: 87,653,970 (GRCm39) |
I549T |
possibly damaging |
Het |
| Tysnd1 |
C |
A |
10: 61,532,328 (GRCm39) |
P327T |
possibly damaging |
Het |
| Ulk4 |
T |
A |
9: 120,974,125 (GRCm39) |
D969V |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,853,385 (GRCm39) |
Y525F |
probably benign |
Het |
| Vmn1r204 |
G |
A |
13: 22,740,975 (GRCm39) |
S202N |
probably damaging |
Het |
| Vmn2r107 |
A |
G |
17: 20,565,878 (GRCm39) |
I64M |
probably benign |
Het |
| Wrn |
A |
G |
8: 33,782,746 (GRCm39) |
F728S |
probably damaging |
Het |
| Zfp280b |
C |
G |
10: 75,874,537 (GRCm39) |
Q139E |
probably damaging |
Het |
| Zfp322a |
C |
A |
13: 23,541,313 (GRCm39) |
G143V |
probably damaging |
Het |
| Zfp322a |
C |
T |
13: 23,541,314 (GRCm39) |
G143S |
probably benign |
Het |
| Zfp418 |
T |
A |
7: 7,185,827 (GRCm39) |
C597S |
possibly damaging |
Het |
| Zfp568 |
A |
G |
7: 29,716,669 (GRCm39) |
T190A |
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,329,758 (GRCm39) |
V476D |
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 |
|
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 |
|
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'- GTAACAAGATGTTTAAGACTGGCC -3'
(R):5'- AATACGGTGGCCTCGTCATC -3'
Sequencing Primer
(F):5'- CAAGATGTTTAAGACTGGCCTCTGTG -3'
(R):5'- TCATCTCGGAGCCTGCGAAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation