Incidental Mutation 'IGL01317:Fhip1a'
| ID |
73869 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fhip1a
|
| Ensembl Gene |
ENSMUSG00000051000 |
| Gene Name |
FHF complex subunit HOOK interacting protein 1A |
| Synonyms |
9930021J17Rik, Fam160a1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01317
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
85567370-85653516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85580153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 684
(D684G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094148]
[ENSMUST00000118408]
[ENSMUST00000119077]
[ENSMUST00000154148]
|
| AlphaFold |
Q505K2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094148
AA Change: D684G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: D684G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI16-like
|
88 |
411 |
1.2e-102 |
PFAM |
|
low complexity region
|
483 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
613 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
838 |
853 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118408
AA Change: D684G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: D684G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI16-like
|
88 |
411 |
1.1e-98 |
PFAM |
|
low complexity region
|
483 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
613 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
838 |
853 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119077
|
| SMART Domains |
Protein: ENSMUSP00000112705
Gene: ENSMUSG00000051000
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
437 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126445
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154148
|
| SMART Domains |
Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805
| Domain | Start | End | E-Value | Type |
|---|
|
Arfaptin
|
1 |
227 |
7.15e-121 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,362,597 (GRCm39) |
D609E |
probably damaging |
Het |
| Aldh3b1 |
T |
C |
19: 3,968,104 (GRCm39) |
I352V |
probably benign |
Het |
| Apeh |
A |
T |
9: 107,963,406 (GRCm39) |
S605R |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,168,260 (GRCm39) |
K748E |
probably benign |
Het |
| Avpr1a |
T |
C |
10: 122,285,472 (GRCm39) |
S255P |
probably benign |
Het |
| Cadps2 |
T |
A |
6: 23,314,172 (GRCm39) |
D1124V |
possibly damaging |
Het |
| Cask |
C |
T |
X: 13,388,499 (GRCm39) |
E83K |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,704,078 (GRCm39) |
Y670C |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,244,037 (GRCm39) |
Y1343H |
probably damaging |
Het |
| Cit |
T |
A |
5: 116,046,775 (GRCm39) |
V396D |
probably benign |
Het |
| Cldn18 |
T |
C |
9: 99,578,135 (GRCm39) |
T203A |
probably benign |
Het |
| Dido1 |
A |
C |
2: 180,313,550 (GRCm39) |
N907K |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,642,921 (GRCm39) |
D246E |
probably damaging |
Het |
| Dph1 |
T |
C |
11: 75,071,486 (GRCm39) |
H303R |
probably benign |
Het |
| Dspp |
T |
A |
5: 104,321,914 (GRCm39) |
Y8N |
probably damaging |
Het |
| Efhc2 |
C |
T |
X: 17,071,198 (GRCm39) |
|
probably benign |
Het |
| Fam171a1 |
T |
A |
2: 3,203,663 (GRCm39) |
V215E |
probably damaging |
Het |
| Foxm1 |
T |
A |
6: 128,344,316 (GRCm39) |
M22K |
probably damaging |
Het |
| Gdpd4 |
A |
C |
7: 97,647,465 (GRCm39) |
M371L |
possibly damaging |
Het |
| Hdac9 |
T |
C |
12: 34,479,488 (GRCm39) |
|
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,413,908 (GRCm39) |
W162R |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,053,078 (GRCm39) |
D250V |
probably damaging |
Het |
| Itga4 |
T |
A |
2: 79,153,005 (GRCm39) |
C897* |
probably null |
Het |
| Itprid1 |
G |
T |
6: 55,944,790 (GRCm39) |
A504S |
possibly damaging |
Het |
| Kcnd2 |
T |
C |
6: 21,727,339 (GRCm39) |
*631Q |
probably null |
Het |
| Kcnn2 |
A |
G |
18: 45,693,694 (GRCm39) |
|
probably null |
Het |
| Lama1 |
A |
T |
17: 68,125,696 (GRCm39) |
E2951V |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,845,455 (GRCm39) |
Q1944R |
probably benign |
Het |
| Mmp14 |
A |
G |
14: 54,673,247 (GRCm39) |
T52A |
possibly damaging |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,372 (GRCm39) |
N102K |
probably benign |
Het |
| Mrpl28 |
G |
A |
17: 26,344,489 (GRCm39) |
G205D |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,493,230 (GRCm39) |
|
probably benign |
Het |
| Oog2 |
A |
G |
4: 143,921,837 (GRCm39) |
N249S |
probably benign |
Het |
| Or4f57 |
T |
A |
2: 111,790,620 (GRCm39) |
H266L |
possibly damaging |
Het |
| Ppp6r2 |
T |
A |
15: 89,170,131 (GRCm39) |
V882E |
possibly damaging |
Het |
| Qser1 |
A |
C |
2: 104,617,324 (GRCm39) |
Y1073D |
probably damaging |
Het |
| Rbl2 |
C |
A |
8: 91,826,685 (GRCm39) |
D480E |
probably damaging |
Het |
| Rfx7 |
G |
A |
9: 72,525,818 (GRCm39) |
G1003S |
probably damaging |
Het |
| Rrh |
A |
C |
3: 129,616,074 (GRCm39) |
F20V |
possibly damaging |
Het |
| Rwdd3 |
A |
G |
3: 120,965,282 (GRCm39) |
I15T |
possibly damaging |
Het |
| Sestd1 |
A |
T |
2: 77,022,889 (GRCm39) |
M493K |
possibly damaging |
Het |
| Slc17a8 |
T |
A |
10: 89,456,666 (GRCm39) |
L32F |
probably benign |
Het |
| Slc29a4 |
A |
G |
5: 142,691,285 (GRCm39) |
D55G |
probably benign |
Het |
| Tbc1d10a |
A |
T |
11: 4,162,826 (GRCm39) |
Y223F |
probably benign |
Het |
| Tbx20 |
A |
G |
9: 24,681,051 (GRCm39) |
V147A |
probably damaging |
Het |
| Tmem63c |
A |
T |
12: 87,118,770 (GRCm39) |
|
probably benign |
Het |
| Tmtc2 |
C |
A |
10: 105,249,646 (GRCm39) |
R29L |
probably damaging |
Het |
| Ttc21b |
T |
A |
2: 66,018,700 (GRCm39) |
M1236L |
probably benign |
Het |
| Unc119 |
T |
A |
11: 78,238,052 (GRCm39) |
C12S |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,839,787 (GRCm39) |
M1919T |
probably benign |
Het |
| Zmat4 |
C |
A |
8: 24,392,185 (GRCm39) |
T47K |
probably benign |
Het |
|
| Other mutations in Fhip1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00588:Fhip1a
|
APN |
3 |
85,579,925 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01102:Fhip1a
|
APN |
3 |
85,572,808 (GRCm39) |
intron |
probably benign |
|
|
IGL01759:Fhip1a
|
APN |
3 |
85,595,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02007:Fhip1a
|
APN |
3 |
85,629,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02037:Fhip1a
|
APN |
3 |
85,637,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02163:Fhip1a
|
APN |
3 |
85,595,859 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02192:Fhip1a
|
APN |
3 |
85,580,633 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02617:Fhip1a
|
APN |
3 |
85,580,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4378001:Fhip1a
|
UTSW |
3 |
85,637,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4520001:Fhip1a
|
UTSW |
3 |
85,579,779 (GRCm39) |
nonsense |
probably null |
|
|
PIT4651001:Fhip1a
|
UTSW |
3 |
85,590,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0590:Fhip1a
|
UTSW |
3 |
85,579,683 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0625:Fhip1a
|
UTSW |
3 |
85,637,807 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0648:Fhip1a
|
UTSW |
3 |
85,637,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0931:Fhip1a
|
UTSW |
3 |
85,580,550 (GRCm39) |
missense |
probably benign |
|
|
R0940:Fhip1a
|
UTSW |
3 |
85,572,797 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0941:Fhip1a
|
UTSW |
3 |
85,580,366 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1115:Fhip1a
|
UTSW |
3 |
85,629,802 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1161:Fhip1a
|
UTSW |
3 |
85,579,775 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1460:Fhip1a
|
UTSW |
3 |
85,638,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1503:Fhip1a
|
UTSW |
3 |
85,579,784 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1545:Fhip1a
|
UTSW |
3 |
85,573,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1820:Fhip1a
|
UTSW |
3 |
85,573,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1907:Fhip1a
|
UTSW |
3 |
85,579,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1911:Fhip1a
|
UTSW |
3 |
85,568,525 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1928:Fhip1a
|
UTSW |
3 |
85,595,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2200:Fhip1a
|
UTSW |
3 |
85,637,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2235:Fhip1a
|
UTSW |
3 |
85,568,408 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2373:Fhip1a
|
UTSW |
3 |
85,583,404 (GRCm39) |
nonsense |
probably null |
|
|
R3084:Fhip1a
|
UTSW |
3 |
85,573,275 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4125:Fhip1a
|
UTSW |
3 |
85,572,690 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4601:Fhip1a
|
UTSW |
3 |
85,648,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Fhip1a
|
UTSW |
3 |
85,637,679 (GRCm39) |
nonsense |
probably null |
|
|
R4665:Fhip1a
|
UTSW |
3 |
85,637,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4673:Fhip1a
|
UTSW |
3 |
85,638,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Fhip1a
|
UTSW |
3 |
85,595,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4783:Fhip1a
|
UTSW |
3 |
85,595,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Fhip1a
|
UTSW |
3 |
85,595,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Fhip1a
|
UTSW |
3 |
85,580,739 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4884:Fhip1a
|
UTSW |
3 |
85,590,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5653:Fhip1a
|
UTSW |
3 |
85,629,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5663:Fhip1a
|
UTSW |
3 |
85,579,740 (GRCm39) |
missense |
probably benign |
|
|
R5764:Fhip1a
|
UTSW |
3 |
85,573,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6134:Fhip1a
|
UTSW |
3 |
85,580,651 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6284:Fhip1a
|
UTSW |
3 |
85,579,995 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6789:Fhip1a
|
UTSW |
3 |
85,579,865 (GRCm39) |
nonsense |
probably null |
|
|
R6843:Fhip1a
|
UTSW |
3 |
85,580,352 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7305:Fhip1a
|
UTSW |
3 |
85,637,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7406:Fhip1a
|
UTSW |
3 |
85,637,784 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7448:Fhip1a
|
UTSW |
3 |
85,579,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7469:Fhip1a
|
UTSW |
3 |
85,580,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7578:Fhip1a
|
UTSW |
3 |
85,573,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7707:Fhip1a
|
UTSW |
3 |
85,583,560 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8071:Fhip1a
|
UTSW |
3 |
85,637,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8093:Fhip1a
|
UTSW |
3 |
85,580,111 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8151:Fhip1a
|
UTSW |
3 |
85,595,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8391:Fhip1a
|
UTSW |
3 |
85,595,788 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8406:Fhip1a
|
UTSW |
3 |
85,580,027 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8774:Fhip1a
|
UTSW |
3 |
85,580,097 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8774-TAIL:Fhip1a
|
UTSW |
3 |
85,580,097 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8843:Fhip1a
|
UTSW |
3 |
85,568,318 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9079:Fhip1a
|
UTSW |
3 |
85,579,590 (GRCm39) |
nonsense |
probably null |
|
|
R9277:Fhip1a
|
UTSW |
3 |
85,579,565 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9302:Fhip1a
|
UTSW |
3 |
85,579,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9324:Fhip1a
|
UTSW |
3 |
85,638,053 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9494:Fhip1a
|
UTSW |
3 |
85,583,565 (GRCm39) |
nonsense |
probably null |
|
|
R9516:Fhip1a
|
UTSW |
3 |
85,580,559 (GRCm39) |
nonsense |
probably null |
|
|
R9638:Fhip1a
|
UTSW |
3 |
85,568,391 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9654:Fhip1a
|
UTSW |
3 |
85,579,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Fhip1a
|
UTSW |
3 |
85,580,508 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-10-07 |
Incidental Mutation