Incidental Mutation 'R5663:Fhip1a'
| ID |
444184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhip1a
|
| Ensembl Gene |
ENSMUSG00000051000 |
| Gene Name |
FHF complex subunit HOOK interacting protein 1A |
| Synonyms |
9930021J17Rik, Fam160a1 |
| MMRRC Submission |
043306-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5663 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
85567370-85653516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85579740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 822
(T822A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094148]
[ENSMUST00000118408]
[ENSMUST00000119077]
[ENSMUST00000154148]
|
| AlphaFold |
Q505K2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094148
AA Change: T822A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: T822A
| 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: T822A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: T822A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
T |
C |
5: 50,156,627 (GRCm39) |
N368D |
probably benign |
Het |
| Agfg1 |
T |
A |
1: 82,871,173 (GRCm39) |
S444R |
probably damaging |
Het |
| Arhgap44 |
A |
T |
11: 64,915,117 (GRCm39) |
F384I |
probably damaging |
Het |
| Atp8b2 |
T |
C |
3: 89,849,101 (GRCm39) |
N1078D |
probably benign |
Het |
| Bcan |
G |
A |
3: 87,902,920 (GRCm39) |
T286I |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,845,297 (GRCm39) |
L624P |
probably damaging |
Het |
| Ccn5 |
G |
A |
2: 163,667,173 (GRCm39) |
R58Q |
probably damaging |
Het |
| Cimip1 |
C |
T |
2: 173,369,690 (GRCm39) |
P68L |
probably damaging |
Het |
| Dnah7c |
C |
A |
1: 46,574,308 (GRCm39) |
F994L |
probably damaging |
Het |
| Dpp6 |
A |
G |
5: 27,254,620 (GRCm39) |
I12V |
possibly damaging |
Het |
| Edil3 |
A |
G |
13: 89,190,627 (GRCm39) |
I101M |
probably damaging |
Het |
| Elapor1 |
T |
C |
3: 108,399,399 (GRCm39) |
T64A |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,497,735 (GRCm39) |
V255A |
probably damaging |
Het |
| Fzr1 |
A |
G |
10: 81,206,360 (GRCm39) |
S137P |
probably benign |
Het |
| H2-Eb2 |
T |
C |
17: 34,552,382 (GRCm39) |
F76L |
possibly damaging |
Het |
| Helb |
A |
G |
10: 119,941,698 (GRCm39) |
I330T |
possibly damaging |
Het |
| Il18rap |
T |
A |
1: 40,570,717 (GRCm39) |
C220S |
probably damaging |
Het |
| Kdm4c |
T |
C |
4: 74,317,585 (GRCm39) |
V966A |
probably damaging |
Het |
| Kdm5b |
T |
C |
1: 134,558,373 (GRCm39) |
V1460A |
probably benign |
Het |
| Kif15 |
T |
A |
9: 122,820,916 (GRCm39) |
|
probably null |
Het |
| Liat1 |
A |
G |
11: 75,891,047 (GRCm39) |
K54E |
probably damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,503,949 (GRCm39) |
V497A |
probably benign |
Het |
| Masp1 |
T |
C |
16: 23,271,688 (GRCm39) |
E621G |
possibly damaging |
Het |
| Mier1 |
T |
A |
4: 103,007,739 (GRCm39) |
S285T |
probably damaging |
Het |
| Mroh6 |
A |
G |
15: 75,760,437 (GRCm39) |
S46P |
probably benign |
Het |
| Myo1h |
A |
T |
5: 114,472,155 (GRCm39) |
Q395L |
probably damaging |
Het |
| Ndufb5 |
T |
C |
3: 32,801,898 (GRCm39) |
I86T |
possibly damaging |
Het |
| Nelfb |
T |
A |
2: 25,093,501 (GRCm39) |
E417V |
probably benign |
Het |
| Nfkb1 |
T |
G |
3: 135,309,612 (GRCm39) |
D494A |
possibly damaging |
Het |
| Nid1 |
G |
A |
13: 13,647,419 (GRCm39) |
C395Y |
probably damaging |
Het |
| Nr4a3 |
G |
T |
4: 48,055,931 (GRCm39) |
R319I |
probably damaging |
Het |
| Or2ag13 |
T |
A |
7: 106,472,877 (GRCm39) |
T192S |
probably benign |
Het |
| Or4e1 |
A |
T |
14: 52,701,052 (GRCm39) |
I138K |
probably benign |
Het |
| Or6f2 |
G |
A |
7: 139,756,234 (GRCm39) |
C67Y |
probably damaging |
Het |
| Paqr5 |
A |
G |
9: 61,876,144 (GRCm39) |
V130A |
probably benign |
Het |
| Phlpp2 |
G |
A |
8: 110,630,976 (GRCm39) |
V207I |
probably benign |
Het |
| Pik3ca |
C |
T |
3: 32,516,928 (GRCm39) |
T1052M |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,255,187 (GRCm39) |
Y347H |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,035,142 (GRCm39) |
H1964R |
probably damaging |
Het |
| Rassf7 |
C |
T |
7: 140,797,003 (GRCm39) |
T72I |
probably damaging |
Het |
| Rfx3 |
A |
G |
19: 27,771,017 (GRCm39) |
F603S |
probably damaging |
Het |
| Slc27a4 |
T |
A |
2: 29,702,382 (GRCm39) |
V477D |
probably damaging |
Het |
| Slc9a3 |
A |
C |
13: 74,311,831 (GRCm39) |
D593A |
probably damaging |
Het |
| Smyd1 |
A |
G |
6: 71,216,705 (GRCm39) |
I14T |
probably benign |
Het |
| Sox6 |
T |
A |
7: 115,149,289 (GRCm39) |
I404L |
probably benign |
Het |
| Tas2r121 |
G |
A |
6: 132,677,520 (GRCm39) |
H151Y |
probably benign |
Het |
| Tgfb1 |
C |
T |
7: 25,393,706 (GRCm39) |
T192M |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,155,894 (GRCm39) |
Y2240H |
possibly damaging |
Het |
| Whrn |
T |
A |
4: 63,336,685 (GRCm39) |
N626Y |
probably damaging |
Het |
| Xrra1 |
T |
A |
7: 99,535,250 (GRCm39) |
I185N |
probably damaging |
Het |
| Zfp94 |
G |
A |
7: 24,002,252 (GRCm39) |
R397W |
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 |
|
|
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 |
|
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'- TGTGAACGGCGTACTCTGAG -3'
(R):5'- TGTCAGAACACGTTCTCAGAAGC -3'
Sequencing Primer
(F):5'- AACGGCGTACTCTGAGTCCTC -3'
(R):5'- GTTCTCAGAAGCCAAGCCAGAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation