Incidental Mutation 'R8013:Fhdc1'
| ID |
616984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhdc1
|
| Ensembl Gene |
ENSMUSG00000041842 |
| Gene Name |
FH2 domain containing 1 |
| Synonyms |
6330505N24Rik |
| MMRRC Submission |
067453-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.327)
|
| Stock # |
R8013 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
84349505-84387736 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 84381946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091002]
[ENSMUST00000107689]
[ENSMUST00000194027]
|
| AlphaFold |
Q3ULZ2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000091002
AA Change: M1K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000088525
Gene: ENSMUSG00000041842
AA Change: M1K
| 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 null
Transcript: ENSMUST00000107689
AA Change: M1K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103317
Gene: ENSMUSG00000041842
AA Change: M1K
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030458C11Rik |
C |
A |
15: 12,824,615 (GRCm39) |
D7Y |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,986,699 (GRCm39) |
D2661G |
unknown |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Apob |
T |
A |
12: 8,060,798 (GRCm39) |
N3093K |
possibly damaging |
Het |
| Baz2a |
C |
T |
10: 127,961,157 (GRCm39) |
R1627C |
probably benign |
Het |
| Baz2a |
T |
G |
10: 127,961,161 (GRCm39) |
V1628G |
possibly damaging |
Het |
| Bbs7 |
A |
T |
3: 36,648,536 (GRCm39) |
I404K |
probably damaging |
Het |
| Cacna1g |
T |
C |
11: 94,347,796 (GRCm39) |
Y764C |
probably damaging |
Het |
| Casr |
G |
A |
16: 36,330,006 (GRCm39) |
L443F |
probably benign |
Het |
| Cfap43 |
T |
A |
19: 47,761,548 (GRCm39) |
I849F |
probably damaging |
Het |
| Cntn3 |
A |
T |
6: 102,176,278 (GRCm39) |
H812Q |
probably benign |
Het |
| Cog1 |
A |
G |
11: 113,546,990 (GRCm39) |
D528G |
probably damaging |
Het |
| Depdc5 |
C |
T |
5: 33,131,186 (GRCm39) |
T1229M |
probably benign |
Het |
| Dis3 |
T |
A |
14: 99,314,835 (GRCm39) |
R954W |
possibly damaging |
Het |
| Disp2 |
T |
A |
2: 118,620,163 (GRCm39) |
Y298* |
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,787,040 (GRCm39) |
T332A |
probably damaging |
Het |
| Dock2 |
A |
C |
11: 34,596,677 (GRCm39) |
I393S |
probably damaging |
Het |
| Dtd1 |
A |
G |
2: 144,459,252 (GRCm39) |
D92G |
probably damaging |
Het |
| Eef2 |
T |
A |
10: 81,014,030 (GRCm39) |
V121D |
probably damaging |
Het |
| Eml1 |
T |
A |
12: 108,487,938 (GRCm39) |
I550N |
probably benign |
Het |
| Entpd7 |
A |
G |
19: 43,716,494 (GRCm39) |
D496G |
probably benign |
Het |
| Ets2 |
T |
A |
16: 95,517,144 (GRCm39) |
L292Q |
probably damaging |
Het |
| Ext1 |
T |
C |
15: 52,939,283 (GRCm39) |
I589V |
possibly damaging |
Het |
| Fam20a |
T |
A |
11: 109,576,332 (GRCm39) |
E142D |
possibly damaging |
Het |
| Farp1 |
T |
A |
14: 121,479,813 (GRCm39) |
I368N |
probably damaging |
Het |
| Fars2 |
C |
T |
13: 36,389,068 (GRCm39) |
Q186* |
probably null |
Het |
| Fbn2 |
T |
C |
18: 58,237,153 (GRCm39) |
T617A |
possibly damaging |
Het |
| Fbxo38 |
T |
C |
18: 62,663,882 (GRCm39) |
E203G |
possibly damaging |
Het |
| Fcgbpl1 |
G |
A |
7: 27,836,966 (GRCm39) |
R295H |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gm28363 |
A |
G |
1: 117,654,534 (GRCm39) |
R58G |
probably benign |
Het |
| Gm8356 |
A |
T |
14: 17,692,450 (GRCm39) |
N58K |
probably damaging |
Het |
| Grsf1 |
A |
G |
5: 88,823,615 (GRCm39) |
|
probably null |
Het |
| Hephl1 |
T |
A |
9: 14,965,905 (GRCm39) |
D1016V |
possibly damaging |
Het |
| Hrob |
A |
G |
11: 102,148,725 (GRCm39) |
N379D |
probably benign |
Het |
| Kcnma1 |
T |
A |
14: 23,423,211 (GRCm39) |
I831F |
probably benign |
Het |
| Krt78 |
T |
C |
15: 101,856,977 (GRCm39) |
R377G |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,220,494 (GRCm39) |
H457R |
probably benign |
Het |
| Lmnb1 |
T |
A |
18: 56,841,431 (GRCm39) |
Y83N |
probably damaging |
Het |
| Loxl4 |
A |
G |
19: 42,596,115 (GRCm39) |
C113R |
probably damaging |
Het |
| Lrba |
A |
T |
3: 86,325,278 (GRCm39) |
D1912V |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,420,619 (GRCm39) |
T212S |
probably benign |
Het |
| Map3k4 |
A |
T |
17: 12,489,918 (GRCm39) |
C504* |
probably null |
Het |
| Map4k4 |
T |
C |
1: 40,001,372 (GRCm39) |
I53T |
unknown |
Het |
| Mtcl2 |
A |
G |
2: 156,872,706 (GRCm39) |
|
probably null |
Het |
| Myo5b |
C |
T |
18: 74,893,970 (GRCm39) |
Q1700* |
probably null |
Het |
| Npas2 |
T |
C |
1: 39,377,146 (GRCm39) |
F503L |
probably benign |
Het |
| Nrg1 |
A |
T |
8: 32,439,951 (GRCm39) |
S149T |
probably benign |
Het |
| Or13c7 |
T |
A |
4: 43,854,958 (GRCm39) |
F216L |
probably benign |
Het |
| Or2ag15 |
C |
T |
7: 106,340,824 (GRCm39) |
V106I |
probably benign |
Het |
| Or4a71 |
A |
G |
2: 89,358,280 (GRCm39) |
V158A |
probably benign |
Het |
| Or9r7 |
T |
A |
10: 129,962,647 (GRCm39) |
K93M |
probably damaging |
Het |
| Pdia6 |
T |
C |
12: 17,323,966 (GRCm39) |
L66S |
probably damaging |
Het |
| Prss35 |
T |
C |
9: 86,637,478 (GRCm39) |
S83P |
probably damaging |
Het |
| Psme4 |
G |
A |
11: 30,754,320 (GRCm39) |
M192I |
probably benign |
Het |
| Ptprs |
A |
C |
17: 56,742,994 (GRCm39) |
S383A |
probably damaging |
Het |
| Resf1 |
T |
G |
6: 149,230,368 (GRCm39) |
V1138G |
probably damaging |
Het |
| Sar1b |
C |
T |
11: 51,670,621 (GRCm39) |
P55L |
possibly damaging |
Het |
| Sgsh |
A |
G |
11: 119,243,521 (GRCm39) |
V67A |
probably damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,218,794 (GRCm39) |
Y465C |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,518,582 (GRCm39) |
I502T |
probably damaging |
Het |
| Sugp2 |
T |
A |
8: 70,704,292 (GRCm39) |
Y610N |
probably damaging |
Het |
| Tbc1d24 |
G |
A |
17: 24,401,795 (GRCm39) |
P385S |
possibly damaging |
Het |
| Tm4sf1 |
T |
C |
3: 57,200,319 (GRCm39) |
I99V |
probably benign |
Het |
| Tpr |
G |
T |
1: 150,274,359 (GRCm39) |
V163L |
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,248,480 (GRCm39) |
S988G |
probably damaging |
Het |
| Zbtb26 |
T |
A |
2: 37,327,013 (GRCm39) |
|
probably null |
Het |
| Zfp536 |
T |
C |
7: 37,269,035 (GRCm39) |
N127S |
probably damaging |
Het |
| Zfp750 |
T |
A |
11: 121,403,843 (GRCm39) |
D344V |
possibly damaging |
Het |
| Zmym5 |
T |
A |
14: 57,031,883 (GRCm39) |
K408N |
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 |
|
|
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 |
|
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'- AGGGAGCTGTAGCCATTCAG -3'
(R):5'- GTGAGAACAGTTACCAGCACTG -3'
Sequencing Primer
(F):5'- CTGTAGCCATTCAGGTAAGAAACTG -3'
(R):5'- CAGCACTGACTTTAAACTACTTGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation