Incidental Mutation 'R2042:Fhip1b'
ID |
225072 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fhip1b
|
Ensembl Gene |
ENSMUSG00000044465 |
Gene Name |
FHF complex subunit HOOK interacting protein 1B |
Synonyms |
Fam160a2, 4632419K20Rik, 6530415H11Rik |
MMRRC Submission |
040049-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2042 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
105020418-105049261 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 105033328 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 629
(Y629*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137163
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048079]
[ENSMUST00000074686]
[ENSMUST00000118726]
[ENSMUST00000122327]
[ENSMUST00000137158]
[ENSMUST00000179474]
[ENSMUST00000211549]
[ENSMUST00000210448]
|
AlphaFold |
Q3U2I3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000048079
AA Change: Y643*
|
SMART Domains |
Protein: ENSMUSP00000045084 Gene: ENSMUSG00000044465 AA Change: Y643*
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
96 |
426 |
2.8e-99 |
PFAM |
low complexity region
|
482 |
501 |
N/A |
INTRINSIC |
low complexity region
|
527 |
544 |
N/A |
INTRINSIC |
low complexity region
|
697 |
710 |
N/A |
INTRINSIC |
low complexity region
|
718 |
730 |
N/A |
INTRINSIC |
low complexity region
|
891 |
906 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000074686
AA Change: Y629*
|
SMART Domains |
Protein: ENSMUSP00000074252 Gene: ENSMUSG00000044465 AA Change: Y629*
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
96 |
426 |
4.4e-100 |
PFAM |
low complexity region
|
482 |
501 |
N/A |
INTRINSIC |
low complexity region
|
527 |
544 |
N/A |
INTRINSIC |
low complexity region
|
697 |
710 |
N/A |
INTRINSIC |
low complexity region
|
718 |
730 |
N/A |
INTRINSIC |
low complexity region
|
825 |
840 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118726
|
SMART Domains |
Protein: ENSMUSP00000112605 Gene: ENSMUSG00000044465
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
96 |
426 |
1.8e-99 |
PFAM |
low complexity region
|
496 |
515 |
N/A |
INTRINSIC |
low complexity region
|
541 |
558 |
N/A |
INTRINSIC |
low complexity region
|
707 |
722 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000122327
AA Change: Y629*
|
SMART Domains |
Protein: ENSMUSP00000112711 Gene: ENSMUSG00000044465 AA Change: Y629*
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
96 |
426 |
5.6e-98 |
PFAM |
low complexity region
|
482 |
501 |
N/A |
INTRINSIC |
low complexity region
|
527 |
544 |
N/A |
INTRINSIC |
low complexity region
|
697 |
710 |
N/A |
INTRINSIC |
low complexity region
|
718 |
730 |
N/A |
INTRINSIC |
low complexity region
|
891 |
906 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136298
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137158
|
SMART Domains |
Protein: ENSMUSP00000119184 Gene: ENSMUSG00000044465
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
96 |
259 |
7.2e-42 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000179474
AA Change: Y629*
|
SMART Domains |
Protein: ENSMUSP00000137163 Gene: ENSMUSG00000044465 AA Change: Y629*
Domain | Start | End | E-Value | Type |
Pfam:RAI16-like
|
96 |
426 |
4.2e-98 |
PFAM |
low complexity region
|
496 |
515 |
N/A |
INTRINSIC |
low complexity region
|
541 |
558 |
N/A |
INTRINSIC |
low complexity region
|
711 |
724 |
N/A |
INTRINSIC |
low complexity region
|
732 |
744 |
N/A |
INTRINSIC |
low complexity region
|
905 |
920 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211013
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211549
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210972
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142559
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210448
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
100% (67/67) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the FTS/Hook/FHIP (FHF) complex, which can interact with members of the homotypic vesicular protein sorting (HOPS) complex. This interaction suggests that the encoded protein is involved in vesicle trafficking. [provided by RefSeq, Dec 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
T |
A |
3: 124,210,377 (GRCm39) |
|
probably benign |
Het |
Abca16 |
G |
A |
7: 120,143,941 (GRCm39) |
R1653Q |
probably benign |
Het |
Ahnak2 |
T |
A |
12: 112,749,439 (GRCm39) |
Y176F |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,853,904 (GRCm39) |
|
probably null |
Het |
Atr |
T |
C |
9: 95,752,075 (GRCm39) |
L564S |
probably benign |
Het |
Birc6 |
C |
G |
17: 74,916,654 (GRCm39) |
A1774G |
probably damaging |
Het |
Cacng1 |
C |
T |
11: 107,595,134 (GRCm39) |
A148T |
probably damaging |
Het |
Cd53 |
T |
A |
3: 106,674,740 (GRCm39) |
|
probably null |
Het |
Celsr2 |
A |
G |
3: 108,309,811 (GRCm39) |
F1596S |
probably damaging |
Het |
Cep120 |
A |
T |
18: 53,868,814 (GRCm39) |
F122I |
possibly damaging |
Het |
Ckm |
A |
T |
7: 19,148,082 (GRCm39) |
H7L |
possibly damaging |
Het |
Crybg2 |
T |
C |
4: 133,814,844 (GRCm39) |
V1575A |
possibly damaging |
Het |
Cspp1 |
A |
G |
1: 10,182,763 (GRCm39) |
E712G |
probably damaging |
Het |
Cyp2b23 |
C |
A |
7: 26,365,533 (GRCm39) |
R434L |
probably damaging |
Het |
D630003M21Rik |
A |
T |
2: 158,057,769 (GRCm39) |
S570T |
probably damaging |
Het |
Dmbt1 |
A |
G |
7: 130,708,089 (GRCm39) |
I1444V |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,854,632 (GRCm39) |
V98A |
probably benign |
Het |
Dtx1 |
T |
G |
5: 120,832,541 (GRCm39) |
N299T |
probably benign |
Het |
Efr3b |
T |
A |
12: 4,034,627 (GRCm39) |
D65V |
probably damaging |
Het |
Eml4 |
T |
C |
17: 83,755,607 (GRCm39) |
C323R |
probably damaging |
Het |
Eps15 |
C |
T |
4: 109,161,964 (GRCm39) |
T31I |
probably damaging |
Het |
Fam91a1 |
A |
G |
15: 58,298,443 (GRCm39) |
I184V |
probably benign |
Het |
Fbxl8 |
A |
T |
8: 105,994,856 (GRCm39) |
I123F |
probably damaging |
Het |
Fbxw26 |
T |
G |
9: 109,561,772 (GRCm39) |
T141P |
probably damaging |
Het |
Glra3 |
G |
A |
8: 56,515,494 (GRCm39) |
D190N |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,295,677 (GRCm39) |
L4229P |
probably damaging |
Het |
Ipmk |
C |
T |
10: 71,199,333 (GRCm39) |
R65W |
probably damaging |
Het |
Irs2 |
A |
G |
8: 11,057,580 (GRCm39) |
I284T |
probably damaging |
Het |
Klhl22 |
T |
C |
16: 17,610,284 (GRCm39) |
|
probably benign |
Het |
Lmcd1 |
T |
A |
6: 112,292,851 (GRCm39) |
D234E |
probably benign |
Het |
Lrrc14b |
T |
C |
13: 74,511,561 (GRCm39) |
K173R |
probably benign |
Het |
Magi1 |
A |
T |
6: 93,732,026 (GRCm39) |
N209K |
probably benign |
Het |
Mak |
A |
C |
13: 41,202,912 (GRCm39) |
S179A |
possibly damaging |
Het |
Map3k4 |
C |
A |
17: 12,496,870 (GRCm39) |
R87L |
probably damaging |
Het |
Map4k1 |
T |
C |
7: 28,683,555 (GRCm39) |
L53P |
probably damaging |
Het |
Melk |
T |
C |
4: 44,309,051 (GRCm39) |
|
probably null |
Het |
Mks1 |
C |
T |
11: 87,747,494 (GRCm39) |
|
probably benign |
Het |
Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
N4bp2 |
C |
T |
5: 65,983,964 (GRCm39) |
P1670S |
probably damaging |
Het |
Ncf1 |
C |
G |
5: 134,255,494 (GRCm39) |
Q132H |
probably benign |
Het |
Nemp1 |
T |
C |
10: 127,532,203 (GRCm39) |
S370P |
possibly damaging |
Het |
Nt5c3b |
T |
C |
11: 100,327,020 (GRCm39) |
H92R |
probably benign |
Het |
Or12j2 |
T |
C |
7: 139,915,850 (GRCm39) |
L25P |
probably damaging |
Het |
Or4p19 |
G |
A |
2: 88,242,546 (GRCm39) |
A152V |
possibly damaging |
Het |
P4ha3 |
T |
C |
7: 99,949,897 (GRCm39) |
|
probably null |
Het |
Pcnx1 |
C |
A |
12: 81,965,067 (GRCm39) |
H411Q |
probably damaging |
Het |
Podxl |
A |
G |
6: 31,500,051 (GRCm39) |
V473A |
possibly damaging |
Het |
Prkd2 |
T |
C |
7: 16,590,193 (GRCm39) |
S530P |
possibly damaging |
Het |
Scin |
A |
G |
12: 40,127,509 (GRCm39) |
I427T |
possibly damaging |
Het |
Sgo2b |
T |
C |
8: 64,381,561 (GRCm39) |
T424A |
probably benign |
Het |
Slc22a2 |
T |
C |
17: 12,818,012 (GRCm39) |
I196T |
probably benign |
Het |
Slc47a2 |
C |
A |
11: 61,228,908 (GRCm39) |
V90L |
probably benign |
Het |
Slc4a7 |
G |
A |
14: 14,737,386 (GRCm38) |
V99M |
probably damaging |
Het |
Spata31f3 |
C |
T |
4: 42,874,030 (GRCm39) |
C46Y |
possibly damaging |
Het |
Sprr2k |
T |
C |
3: 92,340,763 (GRCm39) |
|
probably benign |
Het |
Spta1 |
G |
A |
1: 174,039,213 (GRCm39) |
M1185I |
probably benign |
Het |
Tent5b |
T |
C |
4: 133,213,924 (GRCm39) |
V265A |
possibly damaging |
Het |
Uaca |
T |
C |
9: 60,777,173 (GRCm39) |
V518A |
probably damaging |
Het |
Ubr3 |
C |
T |
2: 69,808,118 (GRCm39) |
Q1200* |
probably null |
Het |
Ufm1 |
A |
G |
3: 53,766,702 (GRCm39) |
|
probably benign |
Het |
Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
Zfp142 |
G |
A |
1: 74,609,778 (GRCm39) |
T1236I |
probably benign |
Het |
Zfp236 |
A |
G |
18: 82,651,234 (GRCm39) |
Y845H |
probably damaging |
Het |
Zfp747l1 |
A |
T |
7: 126,984,641 (GRCm39) |
C154S |
possibly damaging |
Het |
Zfp787 |
T |
C |
7: 6,135,763 (GRCm39) |
K163E |
possibly damaging |
Het |
|
Other mutations in Fhip1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00708:Fhip1b
|
APN |
7 |
105,037,467 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01972:Fhip1b
|
APN |
7 |
105,039,352 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02054:Fhip1b
|
APN |
7 |
105,033,630 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03037:Fhip1b
|
APN |
7 |
105,028,293 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03278:Fhip1b
|
APN |
7 |
105,034,331 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03340:Fhip1b
|
APN |
7 |
105,038,517 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03374:Fhip1b
|
APN |
7 |
105,033,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R0426:Fhip1b
|
UTSW |
7 |
105,038,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R0482:Fhip1b
|
UTSW |
7 |
105,033,419 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0586:Fhip1b
|
UTSW |
7 |
105,038,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R0686:Fhip1b
|
UTSW |
7 |
105,037,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R1617:Fhip1b
|
UTSW |
7 |
105,034,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R2025:Fhip1b
|
UTSW |
7 |
105,038,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R2049:Fhip1b
|
UTSW |
7 |
105,039,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R2201:Fhip1b
|
UTSW |
7 |
105,037,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R3778:Fhip1b
|
UTSW |
7 |
105,037,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R4094:Fhip1b
|
UTSW |
7 |
105,037,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R4348:Fhip1b
|
UTSW |
7 |
105,034,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R4482:Fhip1b
|
UTSW |
7 |
105,038,881 (GRCm39) |
missense |
probably benign |
0.06 |
R4609:Fhip1b
|
UTSW |
7 |
105,037,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R4742:Fhip1b
|
UTSW |
7 |
105,033,518 (GRCm39) |
missense |
probably damaging |
0.99 |
R4977:Fhip1b
|
UTSW |
7 |
105,038,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R5642:Fhip1b
|
UTSW |
7 |
105,039,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R6404:Fhip1b
|
UTSW |
7 |
105,034,198 (GRCm39) |
nonsense |
probably null |
|
R6906:Fhip1b
|
UTSW |
7 |
105,037,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R7053:Fhip1b
|
UTSW |
7 |
105,033,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R7265:Fhip1b
|
UTSW |
7 |
105,033,432 (GRCm39) |
missense |
probably benign |
0.00 |
R7808:Fhip1b
|
UTSW |
7 |
105,033,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R8246:Fhip1b
|
UTSW |
7 |
105,038,867 (GRCm39) |
missense |
probably damaging |
0.98 |
R8253:Fhip1b
|
UTSW |
7 |
105,028,294 (GRCm39) |
missense |
possibly damaging |
0.54 |
R8379:Fhip1b
|
UTSW |
7 |
105,034,342 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8497:Fhip1b
|
UTSW |
7 |
105,030,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R8919:Fhip1b
|
UTSW |
7 |
105,037,477 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9093:Fhip1b
|
UTSW |
7 |
105,034,599 (GRCm39) |
missense |
probably damaging |
0.98 |
R9176:Fhip1b
|
UTSW |
7 |
105,030,585 (GRCm39) |
missense |
probably benign |
0.33 |
R9215:Fhip1b
|
UTSW |
7 |
105,034,296 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9244:Fhip1b
|
UTSW |
7 |
105,038,870 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9447:Fhip1b
|
UTSW |
7 |
105,034,155 (GRCm39) |
missense |
probably benign |
|
R9554:Fhip1b
|
UTSW |
7 |
105,038,915 (GRCm39) |
missense |
probably damaging |
0.98 |
X0022:Fhip1b
|
UTSW |
7 |
105,038,916 (GRCm39) |
nonsense |
probably null |
|
Z1190:Fhip1b
|
UTSW |
7 |
105,037,528 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTGCTCAATGCCACCTCCAG -3'
(R):5'- ATTACCTGGAGTATCTGCGTG -3'
Sequencing Primer
(F):5'- AATGCCACCTCCAGCTCCTG -3'
(R):5'- TGTAGACCGCTGTGTCCGAG -3'
|
Posted On |
2014-08-25 |