Incidental Mutation 'R8774:Fhip1a'
ID |
664586 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fhip1a
|
Ensembl Gene |
ENSMUSG00000051000 |
Gene Name |
FHF complex subunit HOOK interacting protein 1A |
Synonyms |
9930021J17Rik, Fam160a1 |
MMRRC Submission |
068628-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8774 (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 C
at 85580097 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Glutamic Acid
at position 703
(Q703E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091700
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094148]
[ENSMUST00000118408]
[ENSMUST00000119077]
[ENSMUST00000154148]
|
AlphaFold |
Q505K2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094148
AA Change: Q703E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000091700 Gene: ENSMUSG00000051000 AA Change: Q703E
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 benign
Transcript: ENSMUST00000118408
AA Change: Q703E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000113235 Gene: ENSMUSG00000051000 AA Change: Q703E
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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (67/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
G |
4: 53,090,358 (GRCm39) |
S364P |
possibly damaging |
Het |
Abcc2 |
T |
A |
19: 43,787,577 (GRCm39) |
Y208N |
probably damaging |
Het |
Acy1 |
A |
T |
9: 106,313,913 (GRCm39) |
D82E |
probably damaging |
Het |
Ankub1 |
A |
G |
3: 57,597,802 (GRCm39) |
L56P |
probably damaging |
Het |
Aoc1 |
T |
A |
6: 48,885,529 (GRCm39) |
F678Y |
probably damaging |
Het |
Asxl3 |
C |
A |
18: 22,657,101 (GRCm39) |
Q1704K |
probably damaging |
Het |
Atg9b |
T |
C |
5: 24,595,571 (GRCm39) |
D236G |
probably damaging |
Het |
Auh |
A |
T |
13: 52,993,631 (GRCm39) |
M261K |
probably benign |
Het |
C2cd6 |
A |
T |
1: 59,099,825 (GRCm39) |
M372K |
possibly damaging |
Het |
Ccdc88b |
A |
T |
19: 6,825,090 (GRCm39) |
N1287K |
probably damaging |
Het |
Cebpz |
A |
G |
17: 79,229,073 (GRCm39) |
S958P |
probably benign |
Het |
Cgn |
T |
A |
3: 94,680,810 (GRCm39) |
Q576L |
probably damaging |
Het |
Chd7 |
T |
A |
4: 8,854,692 (GRCm39) |
M2011K |
probably damaging |
Het |
Cntnap4 |
A |
G |
8: 113,529,820 (GRCm39) |
E676G |
probably benign |
Het |
Cspp1 |
A |
T |
1: 10,183,139 (GRCm39) |
E781D |
possibly damaging |
Het |
Cyb5d2 |
A |
C |
11: 72,679,901 (GRCm39) |
|
probably null |
Het |
Epn3 |
G |
T |
11: 94,383,220 (GRCm39) |
P335T |
possibly damaging |
Het |
Far2 |
T |
A |
6: 148,047,629 (GRCm39) |
S103T |
probably benign |
Het |
Fhl2 |
A |
G |
1: 43,162,751 (GRCm39) |
S255P |
probably damaging |
Het |
Fmnl2 |
T |
A |
2: 52,932,321 (GRCm39) |
V100D |
|
Het |
Gabbr1 |
T |
C |
17: 37,382,749 (GRCm39) |
L814P |
probably damaging |
Het |
Gzmg |
C |
T |
14: 56,394,193 (GRCm39) |
V234I |
probably benign |
Het |
Ift172 |
A |
G |
5: 31,415,207 (GRCm39) |
V1334A |
probably benign |
Het |
Itga8 |
C |
G |
2: 12,187,495 (GRCm39) |
G728A |
probably damaging |
Het |
Klrg1 |
T |
C |
6: 122,255,193 (GRCm39) |
T80A |
probably benign |
Het |
Lrp4 |
A |
G |
2: 91,308,043 (GRCm39) |
N496S |
probably benign |
Het |
Lsmem1 |
G |
T |
12: 40,227,145 (GRCm39) |
N113K |
probably damaging |
Het |
Map3k2 |
G |
A |
18: 32,345,117 (GRCm39) |
S314N |
probably damaging |
Het |
Mtpap |
C |
T |
18: 4,387,032 (GRCm39) |
R361* |
probably null |
Het |
Muc5b |
T |
A |
7: 141,418,831 (GRCm39) |
S3926T |
probably benign |
Het |
Nat10 |
C |
A |
2: 103,561,752 (GRCm39) |
R643L |
probably damaging |
Het |
Ncbp3 |
T |
C |
11: 72,938,808 (GRCm39) |
V28A |
probably benign |
Het |
Nlrp9a |
T |
C |
7: 26,257,984 (GRCm39) |
L534P |
possibly damaging |
Het |
Nmi |
T |
C |
2: 51,848,974 (GRCm39) |
K39E |
probably benign |
Het |
Nxpe4 |
A |
G |
9: 48,304,692 (GRCm39) |
N260D |
probably benign |
Het |
Or4k38 |
T |
C |
2: 111,166,318 (GRCm39) |
Y35C |
probably damaging |
Het |
Or51aa2 |
C |
A |
7: 103,187,965 (GRCm39) |
V159L |
probably benign |
Het |
Or6c213 |
T |
A |
10: 129,573,926 (GRCm39) |
I287F |
probably damaging |
Het |
Or8c19-ps1 |
G |
A |
9: 38,220,600 (GRCm39) |
A170T |
unknown |
Het |
Phf2 |
G |
T |
13: 48,971,878 (GRCm39) |
|
probably benign |
Het |
Pirb |
G |
T |
7: 3,720,728 (GRCm39) |
L257M |
probably damaging |
Het |
Plcg2 |
A |
T |
8: 118,306,585 (GRCm39) |
D313V |
possibly damaging |
Het |
Ppard |
G |
A |
17: 28,517,864 (GRCm39) |
V311I |
possibly damaging |
Het |
Ptcd1 |
A |
T |
5: 145,092,175 (GRCm39) |
M308K |
probably damaging |
Het |
Pygo1 |
A |
G |
9: 72,852,436 (GRCm39) |
N208D |
possibly damaging |
Het |
Robo1 |
T |
G |
16: 72,832,719 (GRCm39) |
D1497E |
probably benign |
Het |
Sdk2 |
T |
C |
11: 113,730,169 (GRCm39) |
D1022G |
probably damaging |
Het |
Shc3 |
G |
A |
13: 51,615,475 (GRCm39) |
H161Y |
probably damaging |
Het |
Slc15a1 |
G |
T |
14: 121,724,423 (GRCm39) |
Q150K |
probably damaging |
Het |
Slc6a11 |
C |
A |
6: 114,206,995 (GRCm39) |
|
probably benign |
Het |
Sod1 |
T |
G |
16: 90,023,039 (GRCm39) |
V120G |
probably damaging |
Het |
Spata31g1 |
T |
C |
4: 42,971,087 (GRCm39) |
L140P |
probably damaging |
Het |
Sprr2f |
T |
A |
3: 92,273,323 (GRCm39) |
C41S |
unknown |
Het |
Svil |
A |
T |
18: 5,049,068 (GRCm39) |
Y115F |
probably damaging |
Het |
Tdp1 |
T |
C |
12: 99,877,917 (GRCm39) |
S400P |
probably damaging |
Het |
Thbs4 |
A |
T |
13: 92,898,030 (GRCm39) |
D596E |
probably damaging |
Het |
Tshz1 |
T |
A |
18: 84,033,101 (GRCm39) |
M436L |
possibly damaging |
Het |
Ube3c |
C |
T |
5: 29,812,029 (GRCm39) |
T423I |
probably benign |
Het |
Unc93a |
A |
T |
17: 13,341,837 (GRCm39) |
I98N |
probably damaging |
Het |
Usp33 |
T |
A |
3: 152,085,213 (GRCm39) |
Y624* |
probably null |
Het |
Utp20 |
A |
G |
10: 88,588,763 (GRCm39) |
|
probably benign |
Het |
Vmn1r217 |
T |
A |
13: 23,298,108 (GRCm39) |
M265L |
probably benign |
Het |
Vmn1r222 |
A |
T |
13: 23,416,418 (GRCm39) |
M265K |
probably benign |
Het |
Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
Zfp867 |
A |
G |
11: 59,354,837 (GRCm39) |
F164S |
probably damaging |
Het |
Zswim1 |
C |
T |
2: 164,668,062 (GRCm39) |
T438I |
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 |
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-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'- CAGGCTCATTCTCTGGCTTG -3'
(R):5'- AGGGGTCCTACATTGAGGAGTC -3'
Sequencing Primer
(F):5'- CTCTGGCTTGGCTTCTGAGAAC -3'
(R):5'- GTCCTACATTGAGGAGTCAGACTTC -3'
|
Posted On |
2021-03-08 |