Incidental Mutation 'R9215:Fhip1b'
| ID |
699127 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9215 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
105020418-105049261 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105034296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 445
(L445P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048079]
[ENSMUST00000074686]
[ENSMUST00000118726]
[ENSMUST00000122327]
[ENSMUST00000137158]
[ENSMUST00000179474]
[ENSMUST00000210448]
[ENSMUST00000211549]
|
| AlphaFold |
Q3U2I3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048079
AA Change: L445P
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000045084
Gene: ENSMUSG00000044465
AA Change: L445P
| 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 damaging
Transcript: ENSMUST00000074686
AA Change: L445P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000074252
Gene: ENSMUSG00000044465
AA Change: L445P
| 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 damaging
Transcript: ENSMUST00000118726
AA Change: L445P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112605
Gene: ENSMUSG00000044465
AA Change: L445P
| 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 damaging
Transcript: ENSMUST00000122327
AA Change: L445P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112711
Gene: ENSMUSG00000044465
AA Change: L445P
| 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 |
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 damaging
Transcript: ENSMUST00000179474
AA Change: L445P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465
AA Change: L445P
| 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 |
probably benign
Transcript: ENSMUST00000210448
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211549
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (69/69) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amigo3 |
G |
A |
9: 107,931,638 (GRCm39) |
A354T |
probably damaging |
Het |
| Ano1 |
A |
G |
7: 144,149,342 (GRCm39) |
S840P |
probably damaging |
Het |
| Arap1 |
A |
G |
7: 101,049,214 (GRCm39) |
Q923R |
probably benign |
Het |
| Blk |
T |
C |
14: 63,610,999 (GRCm39) |
M448V |
probably damaging |
Het |
| Calhm2 |
C |
A |
19: 47,121,305 (GRCm39) |
R288L |
possibly damaging |
Het |
| Card11 |
A |
T |
5: 140,866,154 (GRCm39) |
M913K |
possibly damaging |
Het |
| Carf |
A |
C |
1: 60,189,804 (GRCm39) |
E676D |
possibly damaging |
Het |
| Ccn5 |
T |
A |
2: 163,670,966 (GRCm39) |
C158S |
probably damaging |
Het |
| Ccr2 |
A |
G |
9: 123,906,023 (GRCm39) |
D101G |
probably damaging |
Het |
| Ckap2l |
T |
C |
2: 129,123,826 (GRCm39) |
R532G |
possibly damaging |
Het |
| Clec1a |
T |
C |
6: 129,412,134 (GRCm39) |
T112A |
possibly damaging |
Het |
| Clint1 |
T |
C |
11: 45,774,578 (GRCm39) |
V28A |
probably damaging |
Het |
| Col13a1 |
C |
A |
10: 61,685,990 (GRCm39) |
|
probably null |
Het |
| Cryz |
G |
T |
3: 154,324,446 (GRCm39) |
V216F |
probably benign |
Het |
| Cyp1a1 |
G |
A |
9: 57,609,456 (GRCm39) |
V386I |
probably benign |
Het |
| Cyp2c54 |
G |
A |
19: 40,035,950 (GRCm39) |
T320I |
possibly damaging |
Het |
| Dock7 |
G |
C |
4: 98,859,088 (GRCm39) |
N1431K |
unknown |
Het |
| Fam110c |
G |
T |
12: 31,123,863 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,209,747 (GRCm39) |
C1045S |
probably damaging |
Het |
| Fbxo30 |
G |
A |
10: 11,167,243 (GRCm39) |
R655H |
probably damaging |
Het |
| Gbp2 |
T |
C |
3: 142,338,036 (GRCm39) |
|
probably null |
Het |
| Hmgcll1 |
A |
G |
9: 75,982,083 (GRCm39) |
D176G |
probably benign |
Het |
| Inafm1 |
A |
T |
7: 16,007,055 (GRCm39) |
I54N |
probably damaging |
Het |
| Ipo9 |
C |
G |
1: 135,347,033 (GRCm39) |
M152I |
probably benign |
Het |
| Khdrbs3 |
C |
T |
15: 68,964,798 (GRCm39) |
T333M |
probably damaging |
Het |
| Lefty2 |
A |
G |
1: 180,725,145 (GRCm39) |
T292A |
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,311,085 (GRCm39) |
E237G |
probably damaging |
Het |
| Lrig2 |
T |
A |
3: 104,398,324 (GRCm39) |
E268D |
probably benign |
Het |
| Mbtd1 |
T |
A |
11: 93,834,628 (GRCm39) |
L602Q |
possibly damaging |
Het |
| Mtbp |
T |
C |
15: 55,484,035 (GRCm39) |
V828A |
possibly damaging |
Het |
| Ncapd3 |
C |
A |
9: 26,975,386 (GRCm39) |
Q812K |
possibly damaging |
Het |
| Nlrx1 |
T |
C |
9: 44,165,325 (GRCm39) |
K857R |
probably benign |
Het |
| Or2b28 |
C |
T |
13: 21,532,004 (GRCm39) |
A302V |
probably damaging |
Het |
| Or4d6 |
A |
T |
19: 12,086,016 (GRCm39) |
M72K |
probably damaging |
Het |
| Or4k1 |
T |
C |
14: 50,377,829 (GRCm39) |
Y89C |
probably benign |
Het |
| Or8b1c |
C |
T |
9: 38,384,694 (GRCm39) |
S217F |
probably damaging |
Het |
| P4ha2 |
T |
C |
11: 54,017,226 (GRCm39) |
F456L |
probably benign |
Het |
| Pakap |
T |
A |
4: 57,709,595 (GRCm39) |
V180E |
probably damaging |
Het |
| Pard3b |
A |
G |
1: 62,203,344 (GRCm39) |
D424G |
probably damaging |
Het |
| Pecam1 |
A |
G |
11: 106,579,797 (GRCm39) |
S422P |
probably damaging |
Het |
| Pias2 |
T |
A |
18: 77,216,677 (GRCm39) |
V296E |
probably damaging |
Het |
| Plekha5 |
T |
A |
6: 140,501,733 (GRCm39) |
S640R |
possibly damaging |
Het |
| Prdx2 |
A |
G |
8: 85,697,932 (GRCm39) |
K92E |
possibly damaging |
Het |
| Prl7c1 |
C |
T |
13: 27,960,204 (GRCm39) |
E113K |
probably benign |
Het |
| Pxylp1 |
A |
T |
9: 96,707,111 (GRCm39) |
V357D |
possibly damaging |
Het |
| Rbm12b2 |
T |
C |
4: 12,095,471 (GRCm39) |
F777L |
probably damaging |
Het |
| Rbm4b |
G |
T |
19: 4,812,268 (GRCm39) |
V226F |
possibly damaging |
Het |
| Rel |
T |
C |
11: 23,698,870 (GRCm39) |
D139G |
probably benign |
Het |
| Rnf214 |
C |
T |
9: 45,816,129 (GRCm39) |
D28N |
probably benign |
Het |
| Slc26a5 |
A |
G |
5: 22,042,285 (GRCm39) |
S224P |
possibly damaging |
Het |
| Slc39a6 |
C |
T |
18: 24,732,323 (GRCm39) |
A322T |
probably benign |
Het |
| Slc47a1 |
T |
C |
11: 61,262,647 (GRCm39) |
I81V |
probably benign |
Het |
| Smad5 |
T |
A |
13: 56,880,815 (GRCm39) |
C310S |
probably damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,240,701 (GRCm39) |
D241G |
probably benign |
Het |
| Spata16 |
C |
T |
3: 26,721,994 (GRCm39) |
Q172* |
probably null |
Het |
| Spata31d1d |
G |
T |
13: 59,875,823 (GRCm39) |
Q571K |
probably benign |
Het |
| Speer1e |
A |
T |
5: 11,236,449 (GRCm39) |
I161F |
possibly damaging |
Het |
| Sspo |
G |
A |
6: 48,440,869 (GRCm39) |
R1777H |
possibly damaging |
Het |
| Stt3b |
A |
T |
9: 115,085,223 (GRCm39) |
F381I |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,962,595 (GRCm39) |
Y1194C |
probably benign |
Het |
| Tmem132b |
T |
C |
5: 125,864,180 (GRCm39) |
I762T |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,891,564 (GRCm39) |
T636A |
unknown |
Het |
| Trat1 |
T |
A |
16: 48,574,637 (GRCm39) |
R54* |
probably null |
Het |
| Tubb4a |
A |
T |
17: 57,387,769 (GRCm39) |
V419E |
probably damaging |
Het |
| Txn2 |
A |
T |
15: 77,803,965 (GRCm39) |
W84R |
unknown |
Het |
| Uggt2 |
A |
G |
14: 119,279,006 (GRCm39) |
Y834H |
probably damaging |
Het |
| Upp2 |
T |
C |
2: 58,670,065 (GRCm39) |
L257P |
probably damaging |
Het |
| Vmn2r67 |
C |
T |
7: 84,802,008 (GRCm39) |
V98I |
probably benign |
Het |
| Zfp354c |
T |
C |
11: 50,706,666 (GRCm39) |
I136M |
probably benign |
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 |
|
R2042:Fhip1b
|
UTSW |
7 |
105,033,328 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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'- GATCCTCTCTGCAAGACCACTC -3'
(R):5'- TGAGTGTCTCAGAGGAACCTG -3'
Sequencing Primer
(F):5'- GAGAAGGAATTACACTCATTGTCACC -3'
(R):5'- CTCAGAGGAACCTGGTTTAGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation