Incidental Mutation 'R0940:Fhip1a'
| ID |
81373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhip1a
|
| Ensembl Gene |
ENSMUSG00000051000 |
| Gene Name |
FHF complex subunit HOOK interacting protein 1A |
| Synonyms |
9930021J17Rik, Fam160a1 |
| MMRRC Submission |
039079-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0940 (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 85572797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 952
(V952A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094148]
[ENSMUST00000118408]
[ENSMUST00000119077]
[ENSMUST00000154148]
|
| AlphaFold |
Q505K2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094148
AA Change: V952A
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: V952A
| 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 |
possibly damaging
Transcript: ENSMUST00000118408
AA Change: V952A
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: V952A
| 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 |
0.1051 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.0%
- 20x: 96.7%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810064F22Rik |
C |
T |
9: 22,119,367 (GRCm39) |
|
noncoding transcript |
Het |
| 2610021A01Rik |
T |
G |
7: 41,275,858 (GRCm39) |
I520M |
probably damaging |
Het |
| Ackr4 |
A |
G |
9: 103,976,831 (GRCm39) |
F39L |
probably damaging |
Het |
| Adgre5 |
C |
T |
8: 84,460,126 (GRCm39) |
S92N |
probably damaging |
Het |
| Adrb2 |
T |
C |
18: 62,312,762 (GRCm39) |
D21G |
probably benign |
Het |
| Akr1c6 |
G |
A |
13: 4,486,372 (GRCm39) |
E60K |
probably benign |
Het |
| Bcl7c |
T |
A |
7: 127,306,503 (GRCm39) |
N96I |
possibly damaging |
Het |
| Brca1 |
A |
T |
11: 101,422,969 (GRCm39) |
S106R |
possibly damaging |
Het |
| C6 |
A |
T |
15: 4,764,717 (GRCm39) |
T138S |
probably benign |
Het |
| Cul3 |
T |
C |
1: 80,300,564 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
T |
A |
17: 31,022,217 (GRCm39) |
M3939K |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,681,626 (GRCm39) |
|
probably benign |
Het |
| Dsc2 |
T |
G |
18: 20,183,116 (GRCm39) |
T101P |
probably damaging |
Het |
| Dynlt1b |
T |
C |
17: 6,697,649 (GRCm39) |
|
probably benign |
Het |
| E330013P04Rik |
A |
G |
19: 60,150,354 (GRCm39) |
|
noncoding transcript |
Het |
| Fggy |
A |
G |
4: 95,585,238 (GRCm39) |
E39G |
probably benign |
Het |
| Fmo6 |
A |
T |
1: 162,753,795 (GRCm39) |
C116S |
probably benign |
Het |
| Gadd45a |
A |
G |
6: 67,013,813 (GRCm39) |
I44T |
possibly damaging |
Het |
| Gmps |
A |
G |
3: 63,883,743 (GRCm39) |
|
probably benign |
Het |
| Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
| Hnrnpm |
G |
A |
17: 33,868,976 (GRCm39) |
R523C |
probably damaging |
Het |
| Inpp5a |
T |
C |
7: 139,105,654 (GRCm39) |
Y202H |
probably damaging |
Het |
| Kank3 |
C |
T |
17: 34,036,450 (GRCm39) |
S106F |
probably damaging |
Het |
| Lmcd1 |
A |
G |
6: 112,305,658 (GRCm39) |
D253G |
probably benign |
Het |
| Lrrk2 |
A |
T |
15: 91,613,284 (GRCm39) |
I803F |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,500,129 (GRCm39) |
|
probably benign |
Het |
| Myh4 |
A |
T |
11: 67,133,689 (GRCm39) |
N243Y |
probably damaging |
Het |
| Myorg |
A |
G |
4: 41,497,996 (GRCm39) |
Y545H |
probably damaging |
Het |
| Nfatc1 |
C |
T |
18: 80,679,110 (GRCm39) |
M759I |
probably benign |
Het |
| Nipal4 |
A |
G |
11: 46,041,139 (GRCm39) |
I352T |
possibly damaging |
Het |
| Nomo1 |
A |
G |
7: 45,683,329 (GRCm39) |
E25G |
possibly damaging |
Het |
| Or10j27 |
A |
G |
1: 172,958,020 (GRCm39) |
S255P |
probably benign |
Het |
| Or13a19 |
T |
C |
7: 139,903,065 (GRCm39) |
I151T |
probably benign |
Het |
| Or14j7 |
A |
G |
17: 38,234,591 (GRCm39) |
I45V |
probably damaging |
Het |
| Or1e32 |
T |
C |
11: 73,705,050 (GRCm39) |
N286S |
probably damaging |
Het |
| Or4c116 |
T |
A |
2: 88,942,419 (GRCm39) |
I146L |
probably benign |
Het |
| Or5p66 |
T |
C |
7: 107,886,264 (GRCm39) |
D23G |
probably benign |
Het |
| Pabpn1l |
A |
G |
8: 123,349,183 (GRCm39) |
V78A |
probably benign |
Het |
| Pde6b |
T |
A |
5: 108,568,203 (GRCm39) |
I327N |
possibly damaging |
Het |
| Phrf1 |
T |
C |
7: 140,834,768 (GRCm39) |
|
probably benign |
Het |
| Pkm |
C |
T |
9: 59,575,818 (GRCm39) |
|
probably benign |
Het |
| Plxna2 |
G |
A |
1: 194,482,863 (GRCm39) |
V1519I |
probably benign |
Het |
| Ppp2cb |
T |
C |
8: 34,105,689 (GRCm39) |
|
probably null |
Het |
| Prickle2 |
A |
G |
6: 92,387,984 (GRCm39) |
Y473H |
probably benign |
Het |
| Prpf3 |
A |
G |
3: 95,751,535 (GRCm39) |
W389R |
probably damaging |
Het |
| Psme4 |
G |
A |
11: 30,765,264 (GRCm39) |
E544K |
possibly damaging |
Het |
| Relb |
A |
T |
7: 19,345,767 (GRCm39) |
D395E |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,307,389 (GRCm39) |
N683S |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,964,596 (GRCm39) |
C102R |
probably benign |
Het |
| Sel1l3 |
C |
T |
5: 53,301,379 (GRCm39) |
|
probably benign |
Het |
| Slc8a2 |
A |
G |
7: 15,878,887 (GRCm39) |
T458A |
probably benign |
Het |
| Smc3 |
T |
A |
19: 53,629,340 (GRCm39) |
M931K |
probably benign |
Het |
| Sorbs2 |
T |
C |
8: 46,249,539 (GRCm39) |
V795A |
probably benign |
Het |
| Tgm3 |
A |
G |
2: 129,854,326 (GRCm39) |
S2G |
probably benign |
Het |
| Tpbpa |
T |
C |
13: 61,087,867 (GRCm39) |
T75A |
probably damaging |
Het |
| Trub1 |
A |
G |
19: 57,473,495 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,328,604 (GRCm39) |
|
probably null |
Het |
| Ugt2a3 |
A |
G |
5: 87,475,065 (GRCm39) |
V393A |
possibly damaging |
Het |
| Vav3 |
T |
A |
3: 109,470,151 (GRCm39) |
M532K |
possibly damaging |
Het |
| Zfp616 |
A |
T |
11: 73,975,850 (GRCm39) |
K706N |
probably damaging |
Het |
| Zkscan1 |
T |
C |
5: 138,091,432 (GRCm39) |
F55S |
probably 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 |
|
|
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'- GGTTCCAGACTCCAAGAACACCTG -3'
(R):5'- TGTGTTACAGCCACGCCCATTC -3'
Sequencing Primer
(F):5'- CTGGGCACAGGCTAAGAC -3'
(R):5'- ACGGTTCTAGACAAGCTGC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation