Incidental Mutation 'PIT4651001:Fhip1a'
| ID |
556646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhip1a
|
| Ensembl Gene |
ENSMUSG00000051000 |
| Gene Name |
FHF complex subunit HOOK interacting protein 1A |
| Synonyms |
9930021J17Rik, Fam160a1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4651001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
85567370-85653516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 85590948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 389
(A389T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094148]
[ENSMUST00000118408]
[ENSMUST00000119077]
[ENSMUST00000154148]
|
| AlphaFold |
Q505K2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094148
AA Change: A389T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: A389T
| 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: A389T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: A389T
| 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 |
possibly damaging
Transcript: ENSMUST00000119077
AA Change: A168T
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112705
Gene: ENSMUSG00000051000
AA Change: A168T
| 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: 93.1%
- 3x: 90.7%
- 10x: 84.4%
- 20x: 70.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,408,014 (GRCm39) |
I428L |
probably benign |
Het |
| Aass |
T |
C |
6: 23,118,750 (GRCm39) |
I131V |
probably benign |
Het |
| Alcam |
T |
A |
16: 52,115,550 (GRCm39) |
K189N |
probably benign |
Het |
| Ankrd50 |
C |
A |
3: 38,509,959 (GRCm39) |
E803* |
probably null |
Het |
| Ankrd53 |
A |
G |
6: 83,742,715 (GRCm39) |
D236G |
probably damaging |
Het |
| Bard1 |
A |
G |
1: 71,114,087 (GRCm39) |
V298A |
probably benign |
Het |
| Cacna1d |
C |
T |
14: 29,900,602 (GRCm39) |
G361D |
probably damaging |
Het |
| Camkk1 |
A |
G |
11: 72,916,647 (GRCm39) |
S82G |
probably benign |
Het |
| Ccr4 |
A |
T |
9: 114,321,261 (GRCm39) |
V268E |
probably benign |
Het |
| Cdh6 |
G |
A |
15: 13,044,805 (GRCm39) |
S439L |
possibly damaging |
Het |
| Ces1e |
G |
T |
8: 93,941,711 (GRCm39) |
A254E |
probably benign |
Het |
| Cfap46 |
T |
C |
7: 139,225,467 (GRCm39) |
T1078A |
|
Het |
| Cyp46a1 |
A |
G |
12: 108,319,367 (GRCm39) |
D288G |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,037,243 (GRCm39) |
N3333S |
probably benign |
Het |
| Dzip3 |
A |
G |
16: 48,765,241 (GRCm39) |
V491A |
probably benign |
Het |
| Egr1 |
G |
T |
18: 34,996,240 (GRCm39) |
E341* |
probably null |
Het |
| Enpp1 |
G |
A |
10: 24,529,848 (GRCm39) |
P597S |
probably benign |
Het |
| Ercc3 |
A |
T |
18: 32,373,365 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,205,909 (GRCm39) |
|
probably null |
Het |
| Fbxw11 |
T |
C |
11: 32,661,999 (GRCm39) |
|
probably null |
Het |
| Gbf1 |
A |
G |
19: 46,151,982 (GRCm39) |
N5S |
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,266,289 (GRCm39) |
H584L |
probably benign |
Het |
| Gcgr |
G |
T |
11: 120,428,968 (GRCm39) |
C402F |
probably damaging |
Het |
| Grm7 |
T |
A |
6: 110,623,050 (GRCm39) |
N74K |
probably benign |
Het |
| H1f9 |
A |
G |
11: 94,859,142 (GRCm39) |
S146G |
probably benign |
Het |
| Hoxa10 |
T |
G |
6: 52,211,877 (GRCm39) |
N13T |
possibly damaging |
Het |
| Ice1 |
A |
T |
13: 70,772,040 (GRCm39) |
|
probably null |
Het |
| Il22 |
C |
A |
10: 118,041,495 (GRCm39) |
N69K |
probably damaging |
Het |
| Il9r |
A |
T |
11: 32,141,798 (GRCm39) |
H319Q |
probably benign |
Het |
| Itgax |
A |
G |
7: 127,748,282 (GRCm39) |
T1104A |
probably benign |
Het |
| Jag1 |
C |
T |
2: 136,943,617 (GRCm39) |
G193D |
probably damaging |
Het |
| Krt13 |
T |
A |
11: 100,010,862 (GRCm39) |
D164V |
probably damaging |
Het |
| Lepr |
T |
C |
4: 101,649,194 (GRCm39) |
M865T |
probably damaging |
Het |
| Lmf2 |
G |
A |
15: 89,236,272 (GRCm39) |
H576Y |
possibly damaging |
Het |
| Lrrc8c |
C |
T |
5: 105,756,189 (GRCm39) |
H655Y |
probably benign |
Het |
| Mapk6 |
A |
T |
9: 75,304,869 (GRCm39) |
S183T |
possibly damaging |
Het |
| Mcrs1 |
A |
T |
15: 99,144,832 (GRCm39) |
Y261N |
probably damaging |
Het |
| Mon1b |
G |
A |
8: 114,365,254 (GRCm39) |
G194D |
probably benign |
Het |
| Myo18b |
C |
T |
5: 112,982,301 (GRCm39) |
R1144Q |
probably benign |
Het |
| Myo9b |
T |
A |
8: 71,795,456 (GRCm39) |
H808Q |
possibly damaging |
Het |
| Ngdn |
T |
C |
14: 55,253,657 (GRCm39) |
I15T |
probably benign |
Het |
| Nhsl1 |
T |
G |
10: 18,284,183 (GRCm39) |
S41R |
probably damaging |
Het |
| Numa1 |
A |
T |
7: 101,663,141 (GRCm39) |
K2089M |
probably damaging |
Het |
| Obi1 |
T |
A |
14: 104,743,692 (GRCm39) |
D129V |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,932,507 (GRCm39) |
L4900P |
probably damaging |
Het |
| Olfm4 |
T |
A |
14: 80,258,925 (GRCm39) |
L391Q |
probably benign |
Het |
| Or10g9b |
A |
T |
9: 39,917,526 (GRCm39) |
C240S |
probably damaging |
Het |
| Or2ag1 |
A |
G |
7: 106,472,730 (GRCm39) |
C241R |
probably damaging |
Het |
| Or5b106 |
T |
A |
19: 13,123,991 (GRCm39) |
I11F |
probably benign |
Het |
| Or5b111 |
A |
G |
19: 13,291,556 (GRCm39) |
I31T |
probably benign |
Het |
| Or5m9 |
T |
C |
2: 85,876,862 (GRCm39) |
L12P |
probably damaging |
Het |
| Parn |
T |
A |
16: 13,449,431 (GRCm39) |
N302Y |
probably benign |
Het |
| Pi4k2b |
T |
G |
5: 52,905,812 (GRCm39) |
S118A |
possibly damaging |
Het |
| Piwil4 |
C |
T |
9: 14,620,195 (GRCm39) |
V704I |
possibly damaging |
Het |
| Pm20d2 |
G |
A |
4: 33,181,715 (GRCm39) |
T296M |
probably damaging |
Het |
| Pmpcb |
C |
T |
5: 21,951,048 (GRCm39) |
A270V |
probably benign |
Het |
| Pnpt1 |
T |
C |
11: 29,106,945 (GRCm39) |
|
probably null |
Het |
| Prkn |
T |
A |
17: 11,286,130 (GRCm39) |
L41Q |
probably damaging |
Het |
| Rc3h1 |
C |
A |
1: 160,791,110 (GRCm39) |
N931K |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,007,510 (GRCm39) |
V600A |
probably damaging |
Het |
| Rpl27rt |
A |
T |
18: 34,870,892 (GRCm39) |
Q142L |
unknown |
Het |
| Sall1 |
T |
G |
8: 89,757,731 (GRCm39) |
Q791P |
probably damaging |
Het |
| Sema3c |
T |
A |
5: 17,899,731 (GRCm39) |
Y408N |
probably benign |
Het |
| Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
| Tmem181a |
A |
T |
17: 6,351,170 (GRCm39) |
M319L |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,877,667 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,719,278 (GRCm39) |
T7234S |
unknown |
Het |
| Unc13c |
T |
A |
9: 73,391,021 (GRCm39) |
M2076L |
possibly damaging |
Het |
| Uroc1 |
C |
T |
6: 90,340,095 (GRCm39) |
R667* |
probably null |
Het |
| Uvrag |
A |
G |
7: 98,555,727 (GRCm39) |
F456L |
probably benign |
Het |
| Vmn1r215 |
T |
C |
13: 23,260,530 (GRCm39) |
V190A |
probably damaging |
Het |
| Vmn2r50 |
T |
A |
7: 9,771,659 (GRCm39) |
T681S |
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,595,461 (GRCm39) |
T408S |
probably benign |
Het |
| Vps33b |
A |
G |
7: 79,939,755 (GRCm39) |
D502G |
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 |
|
|
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: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'- TTTCTTCCTCAGAGGCACGG -3'
(R):5'- AGTAAGAGCACGGGCATCTCTC -3'
Sequencing Primer
(F):5'- AGAGGCACGGTCCTTGCTTC -3'
(R):5'- CCAAGGGAACTGCTCTACTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation