Incidental Mutation 'R8151:Fhip1a'
| ID |
632942 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhip1a
|
| Ensembl Gene |
ENSMUSG00000051000 |
| Gene Name |
FHF complex subunit HOOK interacting protein 1A |
| Synonyms |
9930021J17Rik, Fam160a1 |
| MMRRC Submission |
067577-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8151 (G1)
|
| Quality Score |
194.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
85567370-85653516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85595847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 346
(I346N)
|
| 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: I346N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: I346N
| 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: I346N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: I346N
| 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: I125N
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112705
Gene: ENSMUSG00000051000
AA Change: I125N
| 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: 99.8%
- 3x: 99.6%
- 10x: 98.5%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,982,043 (GRCm39) |
I1109T |
possibly damaging |
Het |
| Aipl1 |
C |
A |
11: 71,927,584 (GRCm39) |
D44Y |
probably benign |
Het |
| Aldh8a1 |
C |
T |
10: 21,271,465 (GRCm39) |
T397M |
probably damaging |
Het |
| Btbd16 |
T |
C |
7: 130,398,825 (GRCm39) |
S278P |
probably damaging |
Het |
| Ccdc110 |
G |
A |
8: 46,395,830 (GRCm39) |
E574K |
probably damaging |
Het |
| Cd19 |
T |
A |
7: 126,013,478 (GRCm39) |
K104* |
probably null |
Het |
| Cenpe |
A |
G |
3: 134,952,783 (GRCm39) |
E1491G |
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,537,831 (GRCm39) |
S2546T |
possibly damaging |
Het |
| Col18a1 |
T |
C |
10: 76,948,418 (GRCm39) |
T365A |
unknown |
Het |
| Ctif |
G |
T |
18: 75,653,176 (GRCm39) |
D360E |
probably benign |
Het |
| Fat4 |
G |
A |
3: 38,946,203 (GRCm39) |
E1699K |
probably damaging |
Het |
| Fbxo39 |
G |
A |
11: 72,208,526 (GRCm39) |
V293M |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,852,766 (GRCm39) |
I1351T |
possibly damaging |
Het |
| Havcr2 |
A |
G |
11: 46,366,722 (GRCm39) |
K221E |
possibly damaging |
Het |
| Hdac5 |
T |
C |
11: 102,097,294 (GRCm39) |
T209A |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,341,073 (GRCm39) |
Q1730R |
probably damaging |
Het |
| Ifi202b |
T |
C |
1: 173,804,923 (GRCm39) |
T10A |
probably benign |
Het |
| Il18rap |
T |
C |
1: 40,564,428 (GRCm39) |
S153P |
probably benign |
Het |
| Klk1b21 |
C |
T |
7: 43,753,787 (GRCm39) |
R24* |
probably null |
Het |
| Kras |
ACTTCTTCTTCTTCTTCTTC |
ACTTCTTCTTCTTCTTC |
6: 145,166,360 (GRCm39) |
|
probably benign |
Het |
| Ldlrad4 |
A |
G |
18: 68,383,643 (GRCm39) |
E113G |
possibly damaging |
Het |
| Lhcgr |
AT |
ATT |
17: 89,049,677 (GRCm39) |
615 |
probably null |
Het |
| Macf1 |
T |
C |
4: 123,291,206 (GRCm39) |
E3895G |
possibly damaging |
Het |
| Mug1 |
T |
C |
6: 121,818,117 (GRCm39) |
S143P |
probably benign |
Het |
| Nudcd2 |
A |
T |
11: 40,624,529 (GRCm39) |
|
probably benign |
Het |
| Nup85 |
A |
G |
11: 115,468,759 (GRCm39) |
T201A |
probably benign |
Het |
| Odad2 |
A |
G |
18: 7,127,358 (GRCm39) |
F952L |
probably damaging |
Het |
| Plppr2 |
A |
G |
9: 21,852,105 (GRCm39) |
E64G |
probably damaging |
Het |
| Plvap |
A |
G |
8: 71,960,625 (GRCm39) |
S264P |
probably benign |
Het |
| Polm |
T |
C |
11: 5,787,906 (GRCm39) |
|
probably benign |
Het |
| Polr2d |
T |
A |
18: 31,928,365 (GRCm39) |
H93Q |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 162,120,005 (GRCm39) |
E154G |
probably damaging |
Het |
| Rasal2 |
C |
A |
1: 157,071,154 (GRCm39) |
G67C |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,763,683 (GRCm39) |
V329A |
possibly damaging |
Het |
| Sorl1 |
A |
G |
9: 41,979,229 (GRCm39) |
V423A |
probably damaging |
Het |
| Spef2 |
A |
G |
15: 9,601,598 (GRCm39) |
S1555P |
unknown |
Het |
| Srgap3 |
A |
C |
6: 112,793,628 (GRCm39) |
L116R |
probably damaging |
Het |
| St6galnac3 |
C |
T |
3: 153,117,217 (GRCm39) |
V169M |
probably damaging |
Het |
| Stx16 |
T |
A |
2: 173,935,284 (GRCm39) |
M206K |
possibly damaging |
Het |
| Txnip |
A |
G |
3: 96,466,929 (GRCm39) |
D201G |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,130,112 (GRCm39) |
V718A |
probably damaging |
Het |
| Vav3 |
A |
C |
3: 109,416,164 (GRCm39) |
D261A |
probably benign |
Het |
| Vcam1 |
A |
C |
3: 115,918,128 (GRCm39) |
L278V |
possibly damaging |
Het |
| Vta1 |
C |
A |
10: 14,543,697 (GRCm39) |
A226S |
probably damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp777 |
G |
A |
6: 48,006,075 (GRCm39) |
Q440* |
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 |
|
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 |
|
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'- CAAACCGCTCTTCTCTGGAG -3'
(R):5'- CTACAGGGCAGGTGTTGTGTAC -3'
Sequencing Primer
(F):5'- CTCTGGAGTCTGAGTTGAACACATC -3'
(R):5'- AGACATATGGTTGGCTCCAGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation