Incidental Mutation 'R7578:Fhip1a'
| ID |
586559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhip1a
|
| Ensembl Gene |
ENSMUSG00000051000 |
| Gene Name |
FHF complex subunit HOOK interacting protein 1A |
| Synonyms |
9930021J17Rik, Fam160a1 |
| MMRRC Submission |
045663-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7578 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
85567370-85653516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 85573205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 915
(L915I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094148]
[ENSMUST00000118408]
[ENSMUST00000119077]
[ENSMUST00000154148]
|
| AlphaFold |
Q505K2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094148
AA Change: L915I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: L915I
| 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 damaging
Transcript: ENSMUST00000118408
AA Change: L915I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: L915I
| 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: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (66/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,120,343 (GRCm39) |
V165E |
probably damaging |
Het |
| 1700025G04Rik |
T |
G |
1: 151,796,841 (GRCm39) |
T75P |
probably benign |
Het |
| 4930516K23Rik |
T |
C |
7: 103,708,104 (GRCm39) |
E235G |
probably benign |
Het |
| Adam15 |
A |
G |
3: 89,251,499 (GRCm39) |
C449R |
probably damaging |
Het |
| Adam24 |
T |
C |
8: 41,133,294 (GRCm39) |
V254A |
probably benign |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Aldh1a1 |
A |
C |
19: 20,595,366 (GRCm39) |
R98S |
probably damaging |
Het |
| Alg9 |
A |
G |
9: 50,700,835 (GRCm39) |
I202V |
probably benign |
Het |
| Anks1b |
G |
A |
10: 89,885,789 (GRCm39) |
E162K |
probably damaging |
Het |
| Atp6v1b2 |
A |
G |
8: 69,556,128 (GRCm39) |
T268A |
probably benign |
Het |
| Atxn1 |
C |
T |
13: 45,720,834 (GRCm39) |
V354I |
probably benign |
Het |
| B3galt1 |
A |
G |
2: 67,948,896 (GRCm39) |
T204A |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,554,544 (GRCm39) |
I746K |
probably benign |
Het |
| Cdh23 |
G |
A |
10: 60,243,186 (GRCm39) |
T1063M |
probably benign |
Het |
| Cherp |
G |
A |
8: 73,218,102 (GRCm39) |
R543C |
|
Het |
| Cldn20 |
A |
G |
17: 3,583,274 (GRCm39) |
D149G |
probably damaging |
Het |
| Clk2 |
A |
G |
3: 89,083,807 (GRCm39) |
Q474R |
probably benign |
Het |
| Cp |
A |
G |
3: 20,043,262 (GRCm39) |
T1017A |
possibly damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,499,400 (GRCm39) |
L29P |
probably damaging |
Het |
| Ebf3 |
C |
T |
7: 136,915,261 (GRCm39) |
V93M |
probably damaging |
Het |
| Eef1akmt1 |
T |
A |
14: 57,787,328 (GRCm39) |
M183L |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,333,645 (GRCm39) |
E146G |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,293 (GRCm39) |
S283G |
possibly damaging |
Het |
| Fras1 |
A |
T |
5: 96,832,296 (GRCm39) |
Y1543F |
probably damaging |
Het |
| Garin2 |
T |
C |
12: 78,762,275 (GRCm39) |
|
probably null |
Het |
| Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
| Gjd3 |
A |
G |
11: 98,873,301 (GRCm39) |
V181A |
probably damaging |
Het |
| Gm49368 |
T |
A |
7: 127,711,430 (GRCm39) |
C711* |
probably null |
Het |
| Gtf3c2 |
A |
G |
5: 31,330,341 (GRCm39) |
S210P |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,784,548 (GRCm39) |
Y1404C |
probably benign |
Het |
| Il22ra2 |
T |
A |
10: 19,507,372 (GRCm39) |
D128E |
probably benign |
Het |
| Itgav |
T |
A |
2: 83,578,219 (GRCm39) |
D113E |
probably benign |
Het |
| Kcnd3 |
A |
G |
3: 105,366,933 (GRCm39) |
M268V |
probably benign |
Het |
| Kirrel3 |
G |
T |
9: 34,850,408 (GRCm39) |
G19V |
probably damaging |
Het |
| Klf17 |
T |
G |
4: 117,617,916 (GRCm39) |
Y147S |
possibly damaging |
Het |
| Leng1 |
C |
T |
7: 3,668,382 (GRCm39) |
R22H |
probably damaging |
Het |
| Lysmd4 |
T |
A |
7: 66,876,037 (GRCm39) |
Y233* |
probably null |
Het |
| Lyzl6 |
A |
G |
11: 103,525,832 (GRCm39) |
V96A |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,302,644 (GRCm39) |
T797A |
possibly damaging |
Het |
| Nuf2 |
G |
T |
1: 169,332,097 (GRCm39) |
H399Q |
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,885,623 (GRCm39) |
V766A |
probably damaging |
Het |
| Oas1c |
A |
T |
5: 120,940,244 (GRCm39) |
D307E |
probably damaging |
Het |
| Odad2 |
A |
T |
18: 7,211,593 (GRCm39) |
D760E |
probably benign |
Het |
| Or10aa3 |
T |
A |
1: 173,878,266 (GRCm39) |
M109K |
possibly damaging |
Het |
| Or6c5b |
T |
C |
10: 129,245,544 (GRCm39) |
I103T |
probably damaging |
Het |
| P4ha3 |
T |
C |
7: 99,943,121 (GRCm39) |
Y169H |
probably benign |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,417,585 (GRCm39) |
D2522G |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,388,271 (GRCm39) |
D433G |
probably benign |
Het |
| Ptcd3 |
A |
G |
6: 71,885,691 (GRCm39) |
S12P |
probably benign |
Het |
| Ptpn23 |
T |
A |
9: 110,216,676 (GRCm39) |
Q1060L |
probably benign |
Het |
| Rai14 |
G |
T |
15: 10,574,914 (GRCm39) |
N710K |
probably benign |
Het |
| Rai14 |
C |
T |
15: 10,593,189 (GRCm39) |
G152R |
probably damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Satb2 |
A |
G |
1: 56,910,943 (GRCm39) |
V234A |
probably benign |
Het |
| Scg2 |
T |
C |
1: 79,414,612 (GRCm39) |
Q37R |
probably damaging |
Het |
| Slc35e3 |
A |
T |
10: 117,576,484 (GRCm39) |
S230T |
probably damaging |
Het |
| Slc39a2 |
T |
C |
14: 52,132,873 (GRCm39) |
V272A |
probably damaging |
Het |
| Smg7 |
T |
A |
1: 152,721,181 (GRCm39) |
Y677F |
probably damaging |
Het |
| Spinkl |
A |
G |
18: 44,301,213 (GRCm39) |
Y42H |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,774,782 (GRCm39) |
F102L |
probably benign |
Het |
| Sstr3 |
T |
C |
15: 78,424,717 (GRCm39) |
E10G |
probably benign |
Het |
| Tekt3 |
A |
T |
11: 62,985,486 (GRCm39) |
I431F |
probably damaging |
Het |
| Trio |
C |
T |
15: 27,855,025 (GRCm39) |
R778H |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,282,110 (GRCm39) |
V1875D |
probably damaging |
Het |
| Vmn2r29 |
A |
C |
7: 7,234,441 (GRCm39) |
I815S |
probably damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,603,552 (GRCm39) |
K577* |
probably null |
Het |
| Vps26c |
A |
C |
16: 94,299,928 (GRCm39) |
N275K |
probably damaging |
Het |
| Yes1 |
G |
A |
5: 32,802,430 (GRCm39) |
R115Q |
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 |
|
R7469:Fhip1a
|
UTSW |
3 |
85,580,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TGTCTAGAACCGTCTATACAGCC -3'
(R):5'- AGACACATGTCCTCTGTGTCC -3'
Sequencing Primer
(F):5'- GTCTATACAGCCAGCCTGC -3'
(R):5'- GTGTCCACACCCTGGCTATG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation