Incidental Mutation 'R0648:Fhip1a'
ID |
57324 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fhip1a
|
Ensembl Gene |
ENSMUSG00000051000 |
Gene Name |
FHF complex subunit HOOK interacting protein 1A |
Synonyms |
9930021J17Rik, Fam160a1 |
MMRRC Submission |
038833-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0648 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
85567370-85653516 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 85637921 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 126
(V126G)
|
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: V126G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000091700 Gene: ENSMUSG00000051000 AA Change: V126G
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: V126G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113235 Gene: ENSMUSG00000051000 AA Change: V126G
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 |
|
Meta Mutation Damage Score |
0.6655 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (80/80) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
A |
G |
16: 20,184,632 (GRCm39) |
V1009A |
possibly damaging |
Het |
Acta2 |
T |
C |
19: 34,225,934 (GRCm39) |
I87V |
probably benign |
Het |
Arid1a |
A |
G |
4: 133,412,515 (GRCm39) |
Y1560H |
unknown |
Het |
Bcor |
C |
T |
X: 11,925,290 (GRCm39) |
R102Q |
probably damaging |
Het |
Camsap2 |
A |
T |
1: 136,232,057 (GRCm39) |
D179E |
probably damaging |
Het |
Ccdc168 |
A |
G |
1: 44,095,723 (GRCm39) |
S1792P |
possibly damaging |
Het |
Ccdc18 |
T |
A |
5: 108,283,426 (GRCm39) |
S46T |
probably damaging |
Het |
Ccdc18 |
A |
C |
5: 108,322,853 (GRCm39) |
Q651P |
probably damaging |
Het |
Cdc73 |
T |
C |
1: 143,571,200 (GRCm39) |
T80A |
probably benign |
Het |
Cdh20 |
T |
A |
1: 109,993,337 (GRCm39) |
|
probably benign |
Het |
Cenpe |
G |
A |
3: 134,935,843 (GRCm39) |
G426D |
probably damaging |
Het |
Cenpt |
A |
G |
8: 106,571,592 (GRCm39) |
V487A |
probably damaging |
Het |
Clec2m |
A |
G |
6: 129,307,932 (GRCm39) |
F46L |
probably benign |
Het |
Col4a1 |
G |
A |
8: 11,296,892 (GRCm39) |
P84S |
unknown |
Het |
Dennd2d |
A |
G |
3: 106,407,871 (GRCm39) |
I450M |
probably damaging |
Het |
Dhps |
C |
A |
8: 85,799,911 (GRCm39) |
|
probably null |
Het |
Ebf1 |
A |
T |
11: 44,882,337 (GRCm39) |
H431L |
probably damaging |
Het |
Efcab6 |
A |
G |
15: 83,817,265 (GRCm39) |
|
probably benign |
Het |
Egflam |
T |
C |
15: 7,237,190 (GRCm39) |
H990R |
probably damaging |
Het |
Ercc6l2 |
A |
G |
13: 63,992,459 (GRCm39) |
T303A |
probably benign |
Het |
Fam167b |
T |
C |
4: 129,472,150 (GRCm39) |
K7E |
probably benign |
Het |
Fgd3 |
T |
C |
13: 49,450,049 (GRCm39) |
I67V |
probably benign |
Het |
Fn1 |
A |
T |
1: 71,636,744 (GRCm39) |
V2045D |
possibly damaging |
Het |
Gnl1 |
A |
G |
17: 36,293,490 (GRCm39) |
N225S |
probably damaging |
Het |
Gpx6 |
A |
T |
13: 21,503,047 (GRCm39) |
N154Y |
probably benign |
Het |
H2bc21 |
A |
G |
3: 96,128,851 (GRCm39) |
S124G |
probably benign |
Het |
Haus8 |
C |
A |
8: 71,709,174 (GRCm39) |
G79V |
probably damaging |
Het |
Hdgfl1 |
A |
T |
13: 26,953,836 (GRCm39) |
L79Q |
probably damaging |
Het |
Impdh2 |
T |
C |
9: 108,440,665 (GRCm39) |
Y83H |
probably benign |
Het |
Lama2 |
T |
C |
10: 26,865,372 (GRCm39) |
T2929A |
probably benign |
Het |
Lpin2 |
T |
C |
17: 71,536,307 (GRCm39) |
S199P |
probably benign |
Het |
Moap1 |
T |
C |
12: 102,708,776 (GRCm39) |
T258A |
probably benign |
Het |
Mrps35 |
C |
A |
6: 146,957,443 (GRCm39) |
S156* |
probably null |
Het |
Mrtfa |
A |
G |
15: 80,901,121 (GRCm39) |
S457P |
probably damaging |
Het |
Mtbp |
C |
T |
15: 55,466,597 (GRCm39) |
P537S |
probably benign |
Het |
Ncstn |
C |
A |
1: 171,895,454 (GRCm39) |
V565F |
probably benign |
Het |
Nhsl1 |
A |
G |
10: 18,407,474 (GRCm39) |
N1536S |
possibly damaging |
Het |
Nkain4 |
T |
C |
2: 180,584,905 (GRCm39) |
Q103R |
possibly damaging |
Het |
Nsun2 |
T |
A |
13: 69,775,706 (GRCm39) |
N383K |
probably damaging |
Het |
Or13p4 |
C |
T |
4: 118,547,269 (GRCm39) |
V127I |
probably benign |
Het |
Or6c33 |
A |
G |
10: 129,853,350 (GRCm39) |
N40S |
probably damaging |
Het |
Parp1 |
C |
T |
1: 180,428,005 (GRCm39) |
|
probably benign |
Het |
Pkd1 |
G |
A |
17: 24,813,911 (GRCm39) |
R4125H |
probably damaging |
Het |
Plxnd1 |
T |
C |
6: 115,970,962 (GRCm39) |
I269V |
possibly damaging |
Het |
Polr1f |
C |
T |
12: 33,487,999 (GRCm39) |
Q305* |
probably null |
Het |
Ppp1r36dn |
A |
G |
12: 76,498,070 (GRCm39) |
|
noncoding transcript |
Het |
Qrich1 |
T |
A |
9: 108,422,076 (GRCm39) |
N563K |
probably damaging |
Het |
Rab3il1 |
TGAAG |
TGAAGAAG |
19: 10,004,752 (GRCm39) |
|
probably benign |
Het |
Rell1 |
G |
A |
5: 64,082,088 (GRCm39) |
T271M |
probably benign |
Het |
Rgl1 |
A |
G |
1: 152,412,016 (GRCm39) |
|
probably null |
Het |
Rph3a |
C |
T |
5: 121,097,333 (GRCm39) |
R261H |
possibly damaging |
Het |
Ryr2 |
A |
T |
13: 11,739,219 (GRCm39) |
M2161K |
possibly damaging |
Het |
Scaf11 |
T |
C |
15: 96,316,339 (GRCm39) |
N1075S |
possibly damaging |
Het |
Serpina3j |
A |
G |
12: 104,280,938 (GRCm39) |
D37G |
probably benign |
Het |
Siah2 |
A |
G |
3: 58,583,635 (GRCm39) |
V217A |
probably damaging |
Het |
Sik2 |
T |
C |
9: 50,810,045 (GRCm39) |
D506G |
probably benign |
Het |
Skap2 |
A |
C |
6: 51,856,765 (GRCm39) |
V279G |
probably benign |
Het |
Slc8a3 |
G |
T |
12: 81,361,220 (GRCm39) |
T533N |
probably damaging |
Het |
Slc9a7 |
A |
T |
X: 20,028,659 (GRCm39) |
|
probably benign |
Het |
Snai3 |
G |
T |
8: 123,181,733 (GRCm39) |
F241L |
probably damaging |
Het |
Speg |
T |
C |
1: 75,404,622 (GRCm39) |
S2805P |
probably benign |
Het |
Spink5 |
A |
T |
18: 44,132,864 (GRCm39) |
|
probably benign |
Het |
Tctn1 |
C |
T |
5: 122,389,761 (GRCm39) |
E254K |
probably benign |
Het |
Tdrd3 |
C |
T |
14: 87,709,618 (GRCm39) |
T100M |
probably damaging |
Het |
Tex47 |
T |
C |
5: 7,355,215 (GRCm39) |
V132A |
probably benign |
Het |
Thbs3 |
A |
G |
3: 89,123,972 (GRCm39) |
|
probably null |
Het |
Tigit |
T |
A |
16: 43,482,401 (GRCm39) |
Y111F |
probably damaging |
Het |
Tmem245 |
A |
G |
4: 56,906,270 (GRCm39) |
I148T |
probably benign |
Het |
Tmem97 |
A |
G |
11: 78,441,365 (GRCm39) |
Y39H |
probably benign |
Het |
Tnks2 |
T |
A |
19: 36,839,474 (GRCm39) |
|
probably null |
Het |
Trp53bp1 |
A |
G |
2: 121,066,188 (GRCm39) |
V846A |
probably benign |
Het |
Tulp2 |
T |
G |
7: 45,169,210 (GRCm39) |
I259S |
probably damaging |
Het |
Ubxn1 |
G |
A |
19: 8,851,612 (GRCm39) |
R215H |
probably damaging |
Het |
Vmn1r17 |
A |
G |
6: 57,337,460 (GRCm39) |
F253L |
probably damaging |
Het |
Vmn2r10 |
T |
C |
5: 109,143,782 (GRCm39) |
M723V |
probably benign |
Het |
Xndc1 |
T |
C |
7: 101,728,031 (GRCm39) |
V14A |
possibly damaging |
Het |
Xpnpep1 |
A |
G |
19: 52,986,294 (GRCm39) |
|
probably benign |
Het |
Yes1 |
T |
A |
5: 32,812,862 (GRCm39) |
M322K |
possibly damaging |
Het |
Zdhhc14 |
C |
A |
17: 5,543,877 (GRCm39) |
N52K |
probably benign |
Het |
Zfp42 |
A |
G |
8: 43,749,015 (GRCm39) |
V162A |
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 |
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 |
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'- CTGTGCCCTCTCGATGAATGAAGG -3'
(R):5'- TTCCTGCTAATCGAAGAGCAAGCC -3'
Sequencing Primer
(F):5'- CCTCTCGATGAATGAAGGGTATCAG -3'
(R):5'- GCCAAGGATGCTGCGATG -3'
|
Posted On |
2013-07-11 |