Incidental Mutation 'R5764:Fhip1a'
| ID |
446163 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhip1a
|
| Ensembl Gene |
ENSMUSG00000051000 |
| Gene Name |
FHF complex subunit HOOK interacting protein 1A |
| Synonyms |
9930021J17Rik, Fam160a1 |
| MMRRC Submission |
043365-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5764 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
85567370-85653516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85573172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 926
(Y926H)
|
| 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: Y926H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: Y926H
| 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: Y926H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: Y926H
| 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 |
|
| Meta Mutation Damage Score |
0.0892 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
G |
A |
15: 74,413,423 (GRCm39) |
V536I |
possibly damaging |
Het |
| Arap2 |
T |
C |
5: 62,800,197 (GRCm39) |
T1277A |
probably damaging |
Het |
| Cep85l |
A |
T |
10: 53,225,090 (GRCm39) |
D166E |
probably benign |
Het |
| Cope |
T |
C |
8: 70,759,231 (GRCm39) |
S125P |
probably damaging |
Het |
| Dzip3 |
A |
G |
16: 48,747,724 (GRCm39) |
|
probably benign |
Het |
| Endou |
G |
A |
15: 97,612,488 (GRCm39) |
R253C |
probably damaging |
Het |
| Entpd1 |
A |
T |
19: 40,727,417 (GRCm39) |
|
probably null |
Het |
| Grk3 |
A |
G |
5: 113,114,776 (GRCm39) |
|
probably null |
Het |
| Hba-a2 |
T |
A |
11: 32,247,156 (GRCm39) |
|
probably null |
Het |
| Hecw1 |
C |
T |
13: 14,497,094 (GRCm39) |
V305I |
probably damaging |
Het |
| Hspg2 |
C |
A |
4: 137,289,032 (GRCm39) |
T3735K |
probably damaging |
Het |
| Htr4 |
G |
A |
18: 62,570,613 (GRCm39) |
A223T |
probably damaging |
Het |
| Iglv1 |
T |
C |
16: 18,904,190 (GRCm39) |
I7M |
unknown |
Het |
| Jag1 |
C |
T |
2: 136,931,167 (GRCm39) |
C655Y |
probably damaging |
Het |
| Jmjd1c |
C |
T |
10: 67,062,291 (GRCm39) |
T1548I |
probably damaging |
Het |
| Kif5a |
GGGTTGGT |
GGGT |
10: 127,066,898 (GRCm39) |
|
probably null |
Het |
| Klra6 |
T |
A |
6: 129,999,692 (GRCm39) |
Q92L |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,431,187 (GRCm39) |
N325S |
probably benign |
Het |
| Ly75 |
C |
T |
2: 60,148,783 (GRCm39) |
R1182H |
probably benign |
Het |
| Map2 |
T |
C |
1: 66,454,034 (GRCm39) |
S975P |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,866,707 (GRCm39) |
L587Q |
probably damaging |
Het |
| Mpdz |
A |
G |
4: 81,274,683 (GRCm39) |
F180L |
probably benign |
Het |
| Myadm |
G |
A |
7: 3,345,768 (GRCm39) |
V177I |
possibly damaging |
Het |
| Ngly1 |
T |
A |
14: 16,260,799 (GRCm38) |
M161K |
probably benign |
Het |
| Nup153 |
A |
G |
13: 46,840,803 (GRCm39) |
M255T |
probably damaging |
Het |
| Pgm1 |
C |
T |
4: 99,822,043 (GRCm39) |
A303V |
probably damaging |
Het |
| Pgr |
A |
T |
9: 8,900,538 (GRCm39) |
I24F |
probably benign |
Het |
| Pigq |
A |
T |
17: 26,151,093 (GRCm39) |
I412N |
probably damaging |
Het |
| Plod2 |
A |
G |
9: 92,485,074 (GRCm39) |
H525R |
probably damaging |
Het |
| Polq |
T |
G |
16: 36,837,706 (GRCm39) |
M206R |
probably damaging |
Het |
| Psap |
T |
A |
10: 60,129,186 (GRCm39) |
S100T |
probably benign |
Het |
| Psme4 |
G |
A |
11: 30,722,364 (GRCm39) |
|
probably benign |
Het |
| Serpina1d |
T |
A |
12: 103,732,080 (GRCm39) |
M260L |
probably benign |
Het |
| Serpinf2 |
A |
G |
11: 75,328,230 (GRCm39) |
L106P |
possibly damaging |
Het |
| Sumf1 |
C |
T |
6: 108,095,424 (GRCm39) |
|
probably benign |
Het |
| Tcp1 |
A |
G |
17: 13,135,489 (GRCm39) |
T13A |
probably benign |
Het |
| Tfap2a |
A |
C |
13: 40,881,831 (GRCm39) |
I185S |
possibly damaging |
Het |
| Tlr2 |
A |
C |
3: 83,745,819 (GRCm39) |
I88S |
probably damaging |
Het |
| Tmc4 |
A |
T |
7: 3,675,022 (GRCm39) |
F283L |
probably damaging |
Het |
| Tox4 |
T |
C |
14: 52,523,277 (GRCm39) |
V79A |
probably damaging |
Het |
| Trim10 |
A |
T |
17: 37,181,073 (GRCm39) |
E101D |
probably damaging |
Het |
| Troap |
T |
A |
15: 98,973,300 (GRCm39) |
I22N |
probably damaging |
Het |
| Unc13c |
C |
T |
9: 73,441,185 (GRCm39) |
|
probably null |
Het |
| Utp4 |
T |
G |
8: 107,644,248 (GRCm39) |
V529G |
possibly damaging |
Het |
| Zeb2 |
T |
C |
2: 44,886,931 (GRCm39) |
M664V |
possibly damaging |
Het |
| Zfp180 |
A |
G |
7: 23,800,909 (GRCm39) |
Y53C |
possibly damaging |
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 |
|
|
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'- GAACCGTCTATACAGCCAGC -3'
(R):5'- GAAGCAGACACATGTCCTCTG -3'
Sequencing Primer
(F):5'- CCTGCTGGGACGGGAAG -3'
(R):5'- TATGGCCCCTGTGACTTTGCAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation