Incidental Mutation 'R4673:Fhip1a'
| ID |
348598 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhip1a
|
| Ensembl Gene |
ENSMUSG00000051000 |
| Gene Name |
FHF complex subunit HOOK interacting protein 1A |
| Synonyms |
9930021J17Rik, Fam160a1 |
| MMRRC Submission |
041928-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4673 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
85567370-85653516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85638020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 93
(V93D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094148]
[ENSMUST00000118408]
[ENSMUST00000119077]
[ENSMUST00000154148]
|
| AlphaFold |
Q505K2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094148
AA Change: V93D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: V93D
| 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: V93D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: V93D
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
T |
C |
8: 25,374,471 (GRCm39) |
E507G |
probably damaging |
Het |
| Adam39 |
C |
T |
8: 41,277,768 (GRCm39) |
T53I |
probably benign |
Het |
| Adam4 |
A |
T |
12: 81,468,535 (GRCm39) |
S29T |
possibly damaging |
Het |
| Adamdec1 |
C |
A |
14: 68,815,353 (GRCm39) |
E104* |
probably null |
Het |
| Alas1 |
G |
T |
9: 106,113,676 (GRCm39) |
P523Q |
probably damaging |
Het |
| Aldh3a1 |
A |
G |
11: 61,104,320 (GRCm39) |
D69G |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,808,620 (GRCm39) |
V1266E |
probably damaging |
Het |
| Bcdin3d |
T |
C |
15: 99,368,719 (GRCm39) |
D160G |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,955,772 (GRCm39) |
F569I |
probably benign |
Het |
| Cacna1b |
A |
G |
2: 24,521,956 (GRCm39) |
L1718S |
probably damaging |
Het |
| Casd1 |
A |
G |
6: 4,629,975 (GRCm39) |
Y457C |
probably damaging |
Het |
| Creb3 |
T |
C |
4: 43,563,192 (GRCm39) |
V97A |
probably benign |
Het |
| Cux2 |
G |
T |
5: 122,025,539 (GRCm39) |
S43* |
probably null |
Het |
| Fsbp |
T |
G |
4: 11,579,841 (GRCm39) |
N36K |
probably benign |
Het |
| Gm11565 |
A |
G |
11: 99,806,040 (GRCm39) |
D144G |
probably benign |
Het |
| Gpn3 |
A |
G |
5: 122,511,981 (GRCm39) |
Y19C |
probably damaging |
Het |
| Gstz1 |
A |
T |
12: 87,208,837 (GRCm39) |
T148S |
probably benign |
Het |
| Gtf3c5 |
A |
G |
2: 28,462,236 (GRCm39) |
I282T |
probably benign |
Het |
| Hspa2 |
T |
A |
12: 76,452,514 (GRCm39) |
S403T |
possibly damaging |
Het |
| Il27 |
G |
A |
7: 126,190,251 (GRCm39) |
T121I |
possibly damaging |
Het |
| Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
| Kctd1 |
T |
A |
18: 15,196,284 (GRCm39) |
|
probably benign |
Het |
| Kynu |
A |
G |
2: 43,569,815 (GRCm39) |
T366A |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,841,059 (GRCm39) |
T507I |
probably damaging |
Het |
| Myh11 |
C |
T |
16: 14,087,105 (GRCm39) |
V124M |
probably damaging |
Het |
| Myh14 |
T |
A |
7: 44,273,754 (GRCm39) |
H1331L |
probably damaging |
Het |
| Myh2 |
T |
A |
11: 67,079,303 (GRCm39) |
L957Q |
probably damaging |
Het |
| Myh4 |
T |
C |
11: 67,137,227 (GRCm39) |
F483L |
probably benign |
Het |
| Nbeal1 |
A |
C |
1: 60,368,549 (GRCm39) |
K2631N |
probably damaging |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Ogg1 |
T |
C |
6: 113,304,268 (GRCm39) |
C28R |
probably damaging |
Het |
| Or13c7c |
T |
C |
4: 43,836,430 (GRCm39) |
H20R |
probably benign |
Het |
| Or5b24 |
G |
A |
19: 12,912,461 (GRCm39) |
A120T |
probably damaging |
Het |
| Or5k17 |
C |
T |
16: 58,746,053 (GRCm39) |
V294I |
possibly damaging |
Het |
| Or6e1 |
C |
T |
14: 54,519,789 (GRCm39) |
A188T |
possibly damaging |
Het |
| Or7g35 |
A |
G |
9: 19,496,726 (GRCm39) |
K298E |
possibly damaging |
Het |
| Parp6 |
G |
C |
9: 59,547,393 (GRCm39) |
R460P |
probably damaging |
Het |
| Phf14 |
A |
G |
6: 11,992,056 (GRCm39) |
H744R |
probably damaging |
Het |
| Pibf1 |
A |
G |
14: 99,370,787 (GRCm39) |
N263S |
possibly damaging |
Het |
| Plcb4 |
A |
G |
2: 135,774,191 (GRCm39) |
T158A |
possibly damaging |
Het |
| Plce1 |
T |
C |
19: 38,737,840 (GRCm39) |
S1615P |
possibly damaging |
Het |
| Plxna3 |
T |
G |
X: 73,382,554 (GRCm39) |
|
probably null |
Het |
| Rad54b |
T |
A |
4: 11,609,449 (GRCm39) |
H633Q |
probably benign |
Het |
| Rgs22 |
T |
A |
15: 36,100,079 (GRCm39) |
Y212F |
probably benign |
Het |
| Rnd3 |
G |
A |
2: 51,022,553 (GRCm39) |
A163V |
probably benign |
Het |
| Rnf10 |
A |
T |
5: 115,389,148 (GRCm39) |
V315E |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,701,266 (GRCm39) |
|
probably null |
Het |
| Rp1l1 |
T |
G |
14: 64,268,719 (GRCm39) |
V1435G |
probably damaging |
Het |
| Scaf8 |
T |
A |
17: 3,248,260 (GRCm39) |
D1194E |
probably benign |
Het |
| Septin12 |
T |
C |
16: 4,809,807 (GRCm39) |
T198A |
probably damaging |
Het |
| Shisa2 |
A |
G |
14: 59,867,629 (GRCm39) |
T294A |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,018,628 (GRCm39) |
|
probably null |
Het |
| Strbp |
A |
T |
2: 37,535,691 (GRCm39) |
S6T |
probably damaging |
Het |
| Syf2 |
A |
G |
4: 134,661,804 (GRCm39) |
E56G |
probably damaging |
Het |
| Thap4 |
T |
C |
1: 93,642,588 (GRCm39) |
|
probably benign |
Het |
| Tnfaip3 |
T |
C |
10: 18,887,580 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,891,514 (GRCm39) |
E619G |
probably damaging |
Het |
| Tpr |
G |
A |
1: 150,299,318 (GRCm39) |
A1173T |
probably benign |
Het |
| Tspan3 |
G |
A |
9: 56,043,980 (GRCm39) |
R240W |
probably damaging |
Het |
| Tut7 |
G |
T |
13: 59,944,659 (GRCm39) |
T658K |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,138,027 (GRCm39) |
S1128L |
probably damaging |
Het |
| Ucp1 |
T |
C |
8: 84,021,876 (GRCm39) |
V236A |
probably damaging |
Het |
| Usp34 |
TCACCACCACCACCACCACCACCACCAC |
TCACCACCACCACCACCACCACCAC |
11: 23,314,480 (GRCm39) |
|
probably benign |
Het |
| Zfp940 |
T |
C |
7: 29,544,863 (GRCm39) |
D348G |
probably benign |
Het |
| Zpld2 |
G |
A |
4: 133,927,658 (GRCm39) |
A365V |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCAGCAACATCATGAGGG -3'
(R):5'- CTGTGAATTTGGTAAAGCAAGTGG -3'
Sequencing Primer
(F):5'- CAGCAACATCATGAGGGGCTTC -3'
(R):5'- TATTATGGTAAATGGCAGTAGGTGAC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation