Incidental Mutation 'R7469:Fhip1a'
| ID |
579014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhip1a
|
| Ensembl Gene |
ENSMUSG00000051000 |
| Gene Name |
FHF complex subunit HOOK interacting protein 1A |
| Synonyms |
9930021J17Rik, Fam160a1 |
| MMRRC Submission |
045543-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7469 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
85567370-85653516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85580069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 712
(D712G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094148]
[ENSMUST00000118408]
[ENSMUST00000119077]
[ENSMUST00000154148]
|
| AlphaFold |
Q505K2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094148
AA Change: D712G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: D712G
| 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: D712G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: D712G
| 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 |
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (77/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,259,014 (GRCm39) |
L443P |
probably damaging |
Het |
| Abtb2 |
T |
C |
2: 103,397,292 (GRCm39) |
V74A |
probably benign |
Het |
| Adam5 |
A |
T |
8: 25,305,541 (GRCm39) |
F66I |
probably benign |
Het |
| Aff1 |
T |
A |
5: 103,981,413 (GRCm39) |
D517E |
probably benign |
Het |
| Agbl3 |
A |
G |
6: 34,791,349 (GRCm39) |
K559R |
probably damaging |
Het |
| Aldh1l2 |
A |
C |
10: 83,343,969 (GRCm39) |
V482G |
probably damaging |
Het |
| Ankra2 |
C |
T |
13: 98,402,882 (GRCm39) |
A43V |
probably benign |
Het |
| Ankrd50 |
C |
A |
3: 38,508,342 (GRCm39) |
V419F |
probably damaging |
Het |
| Arhgef16 |
G |
A |
4: 154,375,763 (GRCm39) |
T77M |
probably damaging |
Het |
| Best3 |
T |
C |
10: 116,840,290 (GRCm39) |
V240A |
probably damaging |
Het |
| Btbd7 |
T |
C |
12: 102,779,027 (GRCm39) |
Y413C |
probably damaging |
Het |
| Bzw2 |
A |
T |
12: 36,157,550 (GRCm39) |
V305E |
probably damaging |
Het |
| Cacng8 |
G |
A |
7: 3,463,621 (GRCm39) |
A258T |
possibly damaging |
Het |
| Cfap157 |
T |
C |
2: 32,670,696 (GRCm39) |
Y184C |
probably damaging |
Het |
| Chmp3 |
T |
A |
6: 71,556,652 (GRCm39) |
V184E |
possibly damaging |
Het |
| Cst5 |
C |
T |
2: 149,247,496 (GRCm39) |
L71F |
probably benign |
Het |
| Ctdspl2 |
A |
T |
2: 121,837,362 (GRCm39) |
E376D |
possibly damaging |
Het |
| Cyfip1 |
A |
G |
7: 55,527,468 (GRCm39) |
D200G |
possibly damaging |
Het |
| Cylc2 |
T |
A |
4: 51,227,970 (GRCm39) |
|
probably null |
Het |
| Cyp2c66 |
T |
A |
19: 39,172,307 (GRCm39) |
F407L |
probably damaging |
Het |
| Dcp2 |
T |
C |
18: 44,529,019 (GRCm39) |
F45L |
probably damaging |
Het |
| Dhx34 |
C |
T |
7: 15,950,364 (GRCm39) |
R268H |
probably benign |
Het |
| Dnajc7 |
A |
T |
11: 100,482,377 (GRCm39) |
M205K |
probably benign |
Het |
| Dzip3 |
C |
T |
16: 48,765,242 (GRCm39) |
V491M |
probably benign |
Het |
| Farp1 |
T |
C |
14: 121,512,833 (GRCm39) |
L777P |
probably damaging |
Het |
| Fchsd2 |
T |
G |
7: 100,927,863 (GRCm39) |
|
probably null |
Het |
| Fer1l6 |
A |
T |
15: 58,462,419 (GRCm39) |
|
probably null |
Het |
| Fitm2 |
A |
G |
2: 163,311,742 (GRCm39) |
F157S |
probably damaging |
Het |
| Flt1 |
G |
T |
5: 147,540,379 (GRCm39) |
A770E |
probably damaging |
Het |
| Flt3 |
T |
A |
5: 147,268,084 (GRCm39) |
E967V |
probably benign |
Het |
| Foxc1 |
G |
C |
13: 31,992,361 (GRCm39) |
A391P |
unknown |
Het |
| Foxc1 |
C |
T |
13: 31,992,362 (GRCm39) |
A391V |
unknown |
Het |
| Gimap6 |
T |
A |
6: 48,679,392 (GRCm39) |
T215S |
probably benign |
Het |
| Gm2431 |
A |
T |
7: 141,811,518 (GRCm39) |
C129S |
unknown |
Het |
| Itpr3 |
T |
C |
17: 27,340,028 (GRCm39) |
S2636P |
possibly damaging |
Het |
| Lsg1 |
A |
G |
16: 30,380,635 (GRCm39) |
Y601H |
probably benign |
Het |
| Map4 |
G |
T |
9: 109,856,865 (GRCm39) |
|
probably null |
Het |
| Mga |
T |
C |
2: 119,733,527 (GRCm39) |
M125T |
probably damaging |
Het |
| Mxi1 |
A |
G |
19: 53,360,091 (GRCm39) |
D271G |
probably damaging |
Het |
| Ndst3 |
T |
A |
3: 123,465,310 (GRCm39) |
T221S |
possibly damaging |
Het |
| Neto1 |
T |
A |
18: 86,516,813 (GRCm39) |
S377T |
probably benign |
Het |
| Nkx6-2 |
T |
C |
7: 139,161,555 (GRCm39) |
E210G |
probably damaging |
Het |
| Nos2 |
G |
T |
11: 78,843,797 (GRCm39) |
V915F |
possibly damaging |
Het |
| Nrros |
G |
A |
16: 31,963,030 (GRCm39) |
A329V |
probably benign |
Het |
| Numb |
T |
C |
12: 83,850,578 (GRCm39) |
K211E |
probably benign |
Het |
| Nup210 |
T |
A |
6: 90,995,874 (GRCm39) |
I1671F |
probably benign |
Het |
| Or12j3 |
G |
A |
7: 139,953,050 (GRCm39) |
L158F |
possibly damaging |
Het |
| Or4c106 |
T |
A |
2: 88,682,847 (GRCm39) |
D184E |
probably benign |
Het |
| Or4c31 |
T |
A |
2: 88,291,691 (GRCm39) |
H2Q |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,481,812 (GRCm39) |
M386L |
probably benign |
Het |
| Pcdhb3 |
C |
A |
18: 37,434,388 (GRCm39) |
T118K |
probably benign |
Het |
| Pcdhb8 |
A |
T |
18: 37,489,011 (GRCm39) |
I230F |
probably damaging |
Het |
| Peli2 |
G |
A |
14: 48,488,015 (GRCm39) |
V120I |
probably benign |
Het |
| Pramel15 |
T |
A |
4: 144,099,673 (GRCm39) |
Q364L |
probably damaging |
Het |
| Pramel7 |
T |
A |
2: 87,321,748 (GRCm39) |
M96L |
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,355,293 (GRCm39) |
S1531R |
probably damaging |
Het |
| Prpf31 |
A |
G |
7: 3,636,392 (GRCm39) |
T138A |
possibly damaging |
Het |
| Psme4 |
C |
T |
11: 30,752,837 (GRCm39) |
T175I |
probably benign |
Het |
| Rasgrf2 |
A |
G |
13: 92,165,530 (GRCm39) |
|
probably null |
Het |
| Rps19 |
T |
A |
7: 24,589,190 (GRCm39) |
*146K |
probably null |
Het |
| Rsu1 |
T |
C |
2: 13,082,371 (GRCm39) |
N260S |
probably benign |
Het |
| Serpina3k |
T |
C |
12: 104,311,594 (GRCm39) |
C391R |
not run |
Het |
| Sipa1l1 |
T |
G |
12: 82,467,438 (GRCm39) |
|
probably null |
Het |
| Snd1 |
T |
A |
6: 28,626,126 (GRCm39) |
Y394N |
probably damaging |
Het |
| Spaca4 |
A |
T |
7: 45,374,831 (GRCm39) |
V57E |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,863,278 (GRCm39) |
Y142C |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,795,146 (GRCm39) |
K1535E |
probably benign |
Het |
| Srcin1 |
A |
G |
11: 97,425,435 (GRCm39) |
S541P |
probably damaging |
Het |
| Tc2n |
A |
T |
12: 101,631,934 (GRCm39) |
F308I |
probably damaging |
Het |
| Tdrd5 |
T |
C |
1: 156,090,475 (GRCm39) |
D857G |
probably benign |
Het |
| Timm22 |
A |
G |
11: 76,298,134 (GRCm39) |
D35G |
probably benign |
Het |
| Tram1l1 |
C |
A |
3: 124,114,889 (GRCm39) |
H16Q |
probably benign |
Het |
| Uggt1 |
T |
C |
1: 36,190,814 (GRCm39) |
Y1382C |
probably damaging |
Het |
| Usp32 |
G |
T |
11: 84,879,379 (GRCm39) |
D1443E |
possibly damaging |
Het |
| Uty |
A |
T |
Y: 1,131,072 (GRCm39) |
C1046S |
possibly damaging |
Het |
| Wdr31 |
T |
A |
4: 62,375,768 (GRCm39) |
Q230L |
probably damaging |
Het |
| Wnt8b |
C |
A |
19: 44,500,001 (GRCm39) |
T196K |
possibly damaging |
Het |
| Xpo4 |
A |
T |
14: 57,835,436 (GRCm39) |
H628Q |
probably benign |
Het |
| Zfp780b |
C |
T |
7: 27,663,382 (GRCm39) |
S391N |
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 |
|
|
IGL01317:Fhip1a
|
APN |
3 |
85,580,153 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGTCTAATGCTAAGGCTACG -3'
(R):5'- ACTTCCAGGATGACGTGATGG -3'
Sequencing Primer
(F):5'- ACGCCAGGCTCATTCTCTGG -3'
(R):5'- ACTTCCAGGATGACGTGATGGTATAC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation