Incidental Mutation 'R5653:Fhip1a'
| ID |
442089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhip1a
|
| Ensembl Gene |
ENSMUSG00000051000 |
| Gene Name |
FHF complex subunit HOOK interacting protein 1A |
| Synonyms |
9930021J17Rik, Fam160a1 |
| MMRRC Submission |
043299-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5653 (G1)
|
| Quality Score |
220 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
85567370-85653516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85629808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 40
(L40Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094148]
[ENSMUST00000118408]
[ENSMUST00000119077]
[ENSMUST00000154148]
|
| AlphaFold |
Q505K2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094148
AA Change: L261Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: L261Q
| 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: L261Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: L261Q
| 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 damaging
Transcript: ENSMUST00000119077
AA Change: L40Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112705
Gene: ENSMUSG00000051000
AA Change: L40Q
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
T |
C |
5: 36,040,756 (GRCm39) |
L663P |
probably damaging |
Het |
| Atp10d |
A |
T |
5: 72,421,410 (GRCm39) |
Q682L |
probably benign |
Het |
| Atp8b1 |
A |
G |
18: 64,678,268 (GRCm39) |
V876A |
probably damaging |
Het |
| Bard1 |
A |
T |
1: 71,070,588 (GRCm39) |
V632E |
probably benign |
Het |
| Baz1b |
A |
T |
5: 135,237,951 (GRCm39) |
E209V |
probably benign |
Het |
| Bmp1 |
T |
A |
14: 70,727,534 (GRCm39) |
Y683F |
probably benign |
Het |
| Cacnb1 |
A |
T |
11: 97,900,105 (GRCm39) |
|
probably null |
Het |
| Capza2 |
G |
A |
6: 17,654,112 (GRCm39) |
A55T |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,879,804 (GRCm39) |
N1127S |
possibly damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,853 (GRCm39) |
*255R |
probably null |
Het |
| Ddias |
G |
T |
7: 92,507,937 (GRCm39) |
N659K |
probably damaging |
Het |
| Ddr1 |
C |
T |
17: 35,997,400 (GRCm39) |
A531T |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,740,806 (GRCm39) |
T4127A |
probably damaging |
Het |
| Dnajc10 |
T |
A |
2: 80,179,712 (GRCm39) |
Y749N |
probably damaging |
Het |
| Dnm1l |
A |
G |
16: 16,137,353 (GRCm39) |
L422P |
probably damaging |
Het |
| Edil3 |
A |
T |
13: 89,279,931 (GRCm39) |
N203I |
probably damaging |
Het |
| Egfr |
C |
T |
11: 16,861,617 (GRCm39) |
A1132V |
probably benign |
Het |
| Entpd7 |
C |
T |
19: 43,679,596 (GRCm39) |
R50* |
probably null |
Het |
| Fat2 |
T |
C |
11: 55,201,142 (GRCm39) |
D644G |
probably damaging |
Het |
| Galnt11 |
T |
A |
5: 25,453,856 (GRCm39) |
D27E |
probably damaging |
Het |
| Gm10801 |
T |
A |
2: 98,494,396 (GRCm39) |
F158I |
probably damaging |
Het |
| Gm37240 |
A |
G |
3: 84,405,102 (GRCm39) |
F234L |
probably damaging |
Het |
| Gtf2ird1 |
A |
T |
5: 134,439,821 (GRCm39) |
F136L |
probably damaging |
Het |
| Hspa1l |
T |
C |
17: 35,196,396 (GRCm39) |
V145A |
probably damaging |
Het |
| Ice2 |
A |
G |
9: 69,335,662 (GRCm39) |
T882A |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,719,440 (GRCm39) |
N1264S |
probably benign |
Het |
| Kcnq4 |
C |
A |
4: 120,559,608 (GRCm39) |
V531L |
probably benign |
Het |
| Kif9 |
A |
T |
9: 110,353,999 (GRCm39) |
K790N |
probably damaging |
Het |
| Lipe |
T |
A |
7: 25,097,833 (GRCm39) |
I37L |
probably benign |
Het |
| Lrrc43 |
A |
G |
5: 123,637,643 (GRCm39) |
D270G |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,861,999 (GRCm39) |
Y782H |
probably damaging |
Het |
| Mrpl52 |
T |
C |
14: 54,664,686 (GRCm39) |
S49P |
probably damaging |
Het |
| Or2ak5 |
G |
A |
11: 58,611,077 (GRCm39) |
H266Y |
probably damaging |
Het |
| Or2h15 |
T |
A |
17: 38,442,075 (GRCm39) |
T3S |
possibly damaging |
Het |
| Or5k14 |
A |
G |
16: 58,692,847 (GRCm39) |
L222P |
probably damaging |
Het |
| Or5p56 |
A |
T |
7: 107,589,592 (GRCm39) |
T7S |
probably benign |
Het |
| Pcbp2 |
C |
T |
15: 102,395,524 (GRCm39) |
A141V |
probably damaging |
Het |
| Pcsk9 |
T |
A |
4: 106,316,113 (GRCm39) |
Y110F |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,494,551 (GRCm39) |
S22P |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,860,896 (GRCm39) |
L506Q |
probably damaging |
Het |
| Prkn |
C |
T |
17: 11,456,536 (GRCm39) |
A119V |
probably damaging |
Het |
| Prx |
C |
T |
7: 27,217,029 (GRCm39) |
P510L |
probably damaging |
Het |
| Ptpre |
T |
C |
7: 135,255,672 (GRCm39) |
F54L |
probably damaging |
Het |
| Rspry1 |
T |
G |
8: 95,363,239 (GRCm39) |
|
probably null |
Het |
| Tnfrsf11b |
A |
T |
15: 54,123,262 (GRCm39) |
L113Q |
probably damaging |
Het |
| Tnk1 |
C |
T |
11: 69,744,411 (GRCm39) |
G411S |
probably damaging |
Het |
| Tor3a |
A |
G |
1: 156,484,080 (GRCm39) |
L290S |
probably damaging |
Het |
| Tril |
T |
C |
6: 53,794,970 (GRCm39) |
T751A |
probably benign |
Het |
| Tubgcp6 |
C |
T |
15: 88,992,815 (GRCm39) |
V547I |
possibly damaging |
Het |
| Txnrd3 |
T |
C |
6: 89,631,067 (GRCm39) |
L121P |
probably benign |
Het |
| Vmn1r210 |
T |
A |
13: 23,011,378 (GRCm39) |
R303* |
probably null |
Het |
| Vmn2r38 |
T |
C |
7: 9,100,764 (GRCm39) |
M1V |
probably null |
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 |
|
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'- CGGGATTCAAGCAGAGCATC -3'
(R):5'- CTTCCTAGTTCACCCATGGG -3'
Sequencing Primer
(F):5'- AGTGAAGGGTCTTATACACACAC -3'
(R):5'- ATGGGTTTAACCTCTCCTCATTAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation