Incidental Mutation 'R9079:Fhip1a'
| ID |
689885 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhip1a
|
| Ensembl Gene |
ENSMUSG00000051000 |
| Gene Name |
FHF complex subunit HOOK interacting protein 1A |
| Synonyms |
9930021J17Rik, Fam160a1 |
| MMRRC Submission |
068899-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9079 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
85567370-85653516 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 85579590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Stop codon
at position 872
(G872*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094148]
[ENSMUST00000118408]
[ENSMUST00000119077]
[ENSMUST00000154148]
|
| AlphaFold |
Q505K2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000094148
AA Change: G872*
|
| SMART Domains |
Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: G872*
| 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 null
Transcript: ENSMUST00000118408
AA Change: G872*
|
| SMART Domains |
Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: G872*
| 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 |
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atad2 |
A |
T |
15: 57,989,223 (GRCm39) |
S212R |
probably benign |
Het |
| Bcl9 |
A |
T |
3: 97,112,816 (GRCm39) |
V1213E |
probably damaging |
Het |
| Brd1 |
T |
C |
15: 88,598,153 (GRCm39) |
D531G |
probably damaging |
Het |
| Cd1d1 |
T |
A |
3: 86,906,197 (GRCm39) |
Y26F |
probably benign |
Het |
| Cep83 |
T |
C |
10: 94,564,541 (GRCm39) |
F160S |
possibly damaging |
Het |
| Cfap61 |
G |
T |
2: 145,781,859 (GRCm39) |
V31F |
probably benign |
Het |
| Cox11 |
G |
A |
11: 90,535,246 (GRCm39) |
M232I |
probably damaging |
Het |
| Cpne7 |
C |
T |
8: 123,856,951 (GRCm39) |
P402L |
probably damaging |
Het |
| Cubn |
A |
G |
2: 13,291,914 (GRCm39) |
S3304P |
probably benign |
Het |
| Eif4b |
T |
A |
15: 102,003,177 (GRCm39) |
D549E |
unknown |
Het |
| Extl1 |
T |
A |
4: 134,089,975 (GRCm39) |
N378Y |
probably damaging |
Het |
| Fbxo4 |
C |
T |
15: 3,998,388 (GRCm39) |
|
probably null |
Het |
| G430095P16Rik |
A |
T |
8: 85,453,412 (GRCm39) |
H133L |
unknown |
Het |
| Gm8138 |
A |
T |
14: 43,272,502 (GRCm39) |
N104K |
|
Het |
| Gzma |
A |
G |
13: 113,232,858 (GRCm39) |
F78S |
probably benign |
Het |
| Hars2 |
T |
C |
18: 36,923,190 (GRCm39) |
S400P |
possibly damaging |
Het |
| Hnrnpm |
G |
T |
17: 33,868,775 (GRCm39) |
R551S |
probably damaging |
Het |
| Htr5b |
T |
A |
1: 121,455,816 (GRCm39) |
T35S |
probably benign |
Het |
| Jak3 |
A |
C |
8: 72,131,898 (GRCm39) |
E158A |
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,390,080 (GRCm39) |
|
probably benign |
Het |
| Kdm4c |
C |
A |
4: 74,277,738 (GRCm39) |
D797E |
probably benign |
Het |
| Klhl31 |
T |
A |
9: 77,558,151 (GRCm39) |
V289E |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,490,593 (GRCm39) |
S1398P |
probably benign |
Het |
| Matn4 |
A |
T |
2: 164,235,473 (GRCm39) |
|
probably benign |
Het |
| Mrps28 |
A |
G |
3: 8,867,308 (GRCm39) |
*187Q |
probably null |
Het |
| Myh7b |
G |
A |
2: 155,465,174 (GRCm39) |
V677I |
probably damaging |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Notch3 |
A |
T |
17: 32,383,033 (GRCm39) |
|
probably benign |
Het |
| Nr1h2 |
C |
A |
7: 44,199,430 (GRCm39) |
E440D |
possibly damaging |
Het |
| Or1l4b |
T |
C |
2: 37,036,989 (GRCm39) |
V255A |
probably damaging |
Het |
| Or6c207 |
A |
T |
10: 129,104,466 (GRCm39) |
M242K |
possibly damaging |
Het |
| Or7g16 |
A |
T |
9: 18,726,731 (GRCm39) |
N286K |
probably damaging |
Het |
| Or8g2b |
T |
A |
9: 39,750,769 (GRCm39) |
I13N |
probably benign |
Het |
| Osbpl9 |
A |
T |
4: 108,920,644 (GRCm39) |
V543D |
possibly damaging |
Het |
| Pcgf6 |
T |
C |
19: 47,039,053 (GRCm39) |
E69G |
possibly damaging |
Het |
| Piezo2 |
A |
G |
18: 63,157,537 (GRCm39) |
L2391P |
probably damaging |
Het |
| Rcn2 |
T |
A |
9: 55,952,393 (GRCm39) |
|
probably benign |
Het |
| Ripor2 |
G |
A |
13: 24,915,637 (GRCm39) |
R1069H |
probably benign |
Het |
| Ro60 |
A |
C |
1: 143,641,519 (GRCm39) |
L314R |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Senp5 |
A |
T |
16: 31,787,718 (GRCm39) |
I635N |
probably damaging |
Het |
| Slc30a9 |
A |
T |
5: 67,484,241 (GRCm39) |
K126M |
possibly damaging |
Het |
| Slc9b2 |
A |
T |
3: 135,042,150 (GRCm39) |
R476S |
probably damaging |
Het |
| Sptb |
G |
T |
12: 76,677,454 (GRCm39) |
R127S |
probably damaging |
Het |
| Svil |
T |
C |
18: 5,056,308 (GRCm39) |
S394P |
probably benign |
Het |
| Tjp1 |
A |
T |
7: 64,950,966 (GRCm39) |
I1636N |
possibly damaging |
Het |
| Tlcd5 |
C |
T |
9: 43,022,664 (GRCm39) |
R230Q |
probably benign |
Het |
| Trio |
T |
C |
15: 27,733,023 (GRCm39) |
I2953V |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,632,734 (GRCm39) |
F14107L |
probably damaging |
Het |
| Usp20 |
A |
G |
2: 30,895,120 (GRCm39) |
|
probably benign |
Het |
| Vmn1r123 |
A |
T |
7: 20,896,979 (GRCm39) |
L290F |
probably benign |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,602 (GRCm39) |
M272V |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,149,640 (GRCm39) |
N343Y |
probably benign |
Het |
| Wdr90 |
A |
T |
17: 26,076,403 (GRCm39) |
W45R |
|
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 |
|
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 |
|
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'- TAGTAAGAACAGCACTGTATGGCTG -3'
(R):5'- AGAACTGGACTCTGGCACTG -3'
Sequencing Primer
(F):5'- GCAAAGACATTTCACTCCTGTTAGG -3'
(R):5'- TCTGGCACTGAGGGCTTGAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation