Incidental Mutation 'R3084:Fhip1a'
ID |
265519 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fhip1a
|
Ensembl Gene |
ENSMUSG00000051000 |
Gene Name |
FHF complex subunit HOOK interacting protein 1A |
Synonyms |
9930021J17Rik, Fam160a1 |
MMRRC Submission |
040573-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3084 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
85567370-85653516 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 85573275 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113235
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094148]
[ENSMUST00000094148]
[ENSMUST00000094148]
[ENSMUST00000094148]
[ENSMUST00000118408]
[ENSMUST00000118408]
[ENSMUST00000118408]
[ENSMUST00000118408]
[ENSMUST00000119077]
[ENSMUST00000119077]
[ENSMUST00000154148]
|
AlphaFold |
Q505K2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000094148
|
SMART Domains |
Protein: ENSMUSP00000091700 Gene: ENSMUSG00000051000
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 null
Transcript: ENSMUST00000094148
|
SMART Domains |
Protein: ENSMUSP00000091700 Gene: ENSMUSG00000051000
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 null
Transcript: ENSMUST00000094148
|
SMART Domains |
Protein: ENSMUSP00000091700 Gene: ENSMUSG00000051000
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 null
Transcript: ENSMUST00000094148
|
SMART Domains |
Protein: ENSMUSP00000091700 Gene: ENSMUSG00000051000
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 null
Transcript: ENSMUST00000118408
|
SMART Domains |
Protein: ENSMUSP00000113235 Gene: ENSMUSG00000051000
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 null
Transcript: ENSMUST00000118408
|
SMART Domains |
Protein: ENSMUSP00000113235 Gene: ENSMUSG00000051000
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 null
Transcript: ENSMUST00000118408
|
SMART Domains |
Protein: ENSMUSP00000113235 Gene: ENSMUSG00000051000
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 null
Transcript: ENSMUST00000118408
|
SMART Domains |
Protein: ENSMUSP00000113235 Gene: ENSMUSG00000051000
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: 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 |
0.9493 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra3 |
A |
T |
5: 50,170,733 (GRCm39) |
|
probably null |
Het |
Alms1 |
A |
G |
6: 85,655,122 (GRCm39) |
R3223G |
probably benign |
Het |
Arhgef26 |
T |
C |
3: 62,285,037 (GRCm39) |
V431A |
probably benign |
Het |
Cabyr |
T |
C |
18: 12,884,023 (GRCm39) |
V170A |
probably damaging |
Het |
Cenpe |
A |
G |
3: 134,946,782 (GRCm39) |
E1099G |
probably damaging |
Het |
Creb3l1 |
G |
T |
2: 91,825,789 (GRCm39) |
|
probably null |
Het |
Cyp2c38 |
T |
C |
19: 39,390,145 (GRCm39) |
I352V |
probably benign |
Het |
Dhrs2 |
G |
T |
14: 55,477,301 (GRCm39) |
V179L |
probably benign |
Het |
Dhx9 |
T |
C |
1: 153,341,445 (GRCm39) |
D601G |
probably benign |
Het |
Dlg5 |
T |
C |
14: 24,216,258 (GRCm39) |
T595A |
probably damaging |
Het |
Frk |
G |
A |
10: 34,483,950 (GRCm39) |
G437D |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Gm5699 |
G |
T |
1: 31,037,873 (GRCm39) |
|
noncoding transcript |
Het |
Gsg1l |
C |
T |
7: 125,490,852 (GRCm39) |
R284H |
probably benign |
Het |
Ifit3 |
A |
T |
19: 34,564,640 (GRCm39) |
H62L |
probably damaging |
Het |
Krt34 |
T |
C |
11: 99,931,847 (GRCm39) |
N124S |
probably damaging |
Het |
Megf8 |
T |
A |
7: 25,048,444 (GRCm39) |
Y1706N |
probably damaging |
Het |
Mmd |
C |
T |
11: 90,156,911 (GRCm39) |
R129C |
probably damaging |
Het |
Or4f60 |
C |
A |
2: 111,902,320 (GRCm39) |
G203* |
probably null |
Het |
Or4k36 |
A |
G |
2: 111,146,461 (GRCm39) |
I212M |
probably benign |
Het |
Pde6d |
T |
C |
1: 86,475,248 (GRCm39) |
|
probably null |
Het |
Pomt1 |
G |
T |
2: 32,134,252 (GRCm39) |
V258L |
probably benign |
Het |
Ppp2r5e |
T |
C |
12: 75,515,390 (GRCm39) |
I215V |
probably benign |
Het |
Ranbp10 |
A |
T |
8: 106,501,263 (GRCm39) |
L329Q |
probably damaging |
Het |
Robo1 |
T |
A |
16: 72,801,625 (GRCm39) |
L1083Q |
probably benign |
Het |
Rsph4a |
G |
C |
10: 33,785,198 (GRCm39) |
V370L |
probably damaging |
Het |
Smarcc2 |
T |
C |
10: 128,324,028 (GRCm39) |
|
probably benign |
Het |
Sun1 |
T |
C |
5: 139,221,356 (GRCm39) |
V357A |
probably benign |
Het |
Svop |
T |
C |
5: 114,180,299 (GRCm39) |
T283A |
probably benign |
Het |
Tep1 |
A |
T |
14: 51,064,511 (GRCm39) |
|
probably null |
Het |
Tet1 |
T |
C |
10: 62,715,400 (GRCm39) |
K132E |
probably benign |
Het |
Tex15 |
A |
T |
8: 34,064,913 (GRCm39) |
N1448Y |
probably benign |
Het |
Tktl2 |
T |
A |
8: 66,965,858 (GRCm39) |
M472K |
possibly damaging |
Het |
Tnrc6b |
T |
G |
15: 80,764,448 (GRCm39) |
L650W |
probably damaging |
Het |
Ttf2 |
C |
T |
3: 100,855,580 (GRCm39) |
G872R |
possibly damaging |
Het |
Vmn1r17 |
A |
G |
6: 57,337,768 (GRCm39) |
V199A |
probably damaging |
Het |
Vmn1r178 |
A |
G |
7: 23,593,331 (GRCm39) |
I126M |
possibly damaging |
Het |
Vmn2r85 |
T |
C |
10: 130,261,081 (GRCm39) |
M419V |
probably benign |
Het |
Washc2 |
A |
G |
6: 116,204,454 (GRCm39) |
N454S |
probably benign |
Het |
Xirp2 |
T |
G |
2: 67,339,393 (GRCm39) |
F545V |
probably damaging |
Het |
Zfyve26 |
G |
T |
12: 79,312,457 (GRCm39) |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AATGGGCGTGGCTGTAACAC -3'
(R):5'- CTGAGCTTTTCAAGGTTCTTCATAG -3'
Sequencing Primer
(F):5'- TGGCTGTAACACACCTGGTAG -3'
(R):5'- CATAGATTTCAAGGTACTCCAGGTGG -3'
|
Posted On |
2015-02-05 |