Incidental Mutation 'PIT4520001:Fhip1a'
| ID |
555163 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhip1a
|
| Ensembl Gene |
ENSMUSG00000051000 |
| Gene Name |
FHF complex subunit HOOK interacting protein 1A |
| Synonyms |
9930021J17Rik, Fam160a1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4520001 (G1)
|
| Quality Score |
189.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
85567370-85653516 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 85579779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 809
(Q809*)
|
| 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: Q809*
|
| SMART Domains |
Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: Q809*
| 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: Q809*
|
| SMART Domains |
Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: Q809*
| 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: 93.5%
- 3x: 91.1%
- 10x: 86.1%
- 20x: 75.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
A |
G |
11: 7,117,133 (GRCm39) |
N1000S |
probably damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,413,508 (GRCm39) |
D564G |
probably damaging |
Het |
| Ankmy2 |
A |
G |
12: 36,207,390 (GRCm39) |
E12G |
probably benign |
Het |
| Arid1a |
C |
T |
4: 133,409,227 (GRCm39) |
S1375N |
unknown |
Het |
| Atp1a2 |
G |
A |
1: 172,106,941 (GRCm39) |
A793V |
probably benign |
Het |
| Atp8b1 |
T |
C |
18: 64,701,251 (GRCm39) |
Y369C |
probably benign |
Het |
| Catsperg2 |
A |
G |
7: 29,409,586 (GRCm39) |
Y536H |
possibly damaging |
Het |
| Ccdc178 |
A |
G |
18: 22,200,470 (GRCm39) |
Y445H |
probably damaging |
Het |
| Cep170 |
G |
T |
1: 176,607,765 (GRCm39) |
N230K |
unknown |
Het |
| Cftr |
A |
G |
6: 18,277,842 (GRCm39) |
I977V |
probably benign |
Het |
| Chek2 |
A |
G |
5: 111,011,195 (GRCm39) |
Y331C |
probably damaging |
Het |
| Chst13 |
A |
T |
6: 90,286,167 (GRCm39) |
I265K |
probably benign |
Het |
| Coil |
T |
C |
11: 88,872,437 (GRCm39) |
M266T |
probably benign |
Het |
| Col16a1 |
T |
A |
4: 129,945,456 (GRCm39) |
C28S |
unknown |
Het |
| Col3a1 |
T |
C |
1: 45,374,943 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 15,956,023 (GRCm39) |
V3395M |
probably benign |
Het |
| Cyp51 |
A |
G |
5: 4,151,200 (GRCm39) |
V143A |
probably damaging |
Het |
| Eif2ak1 |
C |
T |
5: 143,836,027 (GRCm39) |
Q573* |
probably null |
Het |
| Eif2ak4 |
T |
A |
2: 118,292,808 (GRCm39) |
I1344N |
probably damaging |
Het |
| Gen1 |
A |
G |
12: 11,291,509 (GRCm39) |
V825A |
probably benign |
Het |
| Gm28042 |
A |
T |
2: 119,870,148 (GRCm39) |
K696* |
probably null |
Het |
| Gm4952 |
A |
G |
19: 12,602,048 (GRCm39) |
Y152C |
probably benign |
Het |
| Hdac3 |
G |
A |
18: 38,074,817 (GRCm39) |
T308I |
probably damaging |
Het |
| Hpx |
T |
C |
7: 105,241,341 (GRCm39) |
T357A |
probably benign |
Het |
| Hscb |
A |
T |
5: 110,983,851 (GRCm39) |
Y139N |
probably damaging |
Het |
| Kcnk9 |
T |
A |
15: 72,384,332 (GRCm39) |
H282L |
probably benign |
Het |
| Kdm2b |
G |
A |
5: 123,079,110 (GRCm39) |
T287M |
probably damaging |
Het |
| Kif19a |
C |
T |
11: 114,672,034 (GRCm39) |
T207M |
probably damaging |
Het |
| Kmt2c |
A |
C |
5: 25,520,664 (GRCm39) |
N1815K |
probably benign |
Het |
| Ktn1 |
C |
T |
14: 47,923,774 (GRCm39) |
T511M |
probably damaging |
Het |
| Lrp1 |
C |
G |
10: 127,443,843 (GRCm39) |
Q141H |
possibly damaging |
Het |
| Lrrc43 |
T |
C |
5: 123,630,530 (GRCm39) |
V131A |
possibly damaging |
Het |
| Man1b1 |
T |
A |
2: 25,233,282 (GRCm39) |
H218Q |
probably damaging |
Het |
| Mapk8ip2 |
T |
A |
15: 89,344,900 (GRCm39) |
C766S |
probably damaging |
Het |
| Mfn1 |
A |
G |
3: 32,615,695 (GRCm39) |
N353D |
probably benign |
Het |
| Mtcl1 |
A |
T |
17: 66,692,907 (GRCm39) |
L474Q |
possibly damaging |
Het |
| Mtr |
T |
A |
13: 12,212,871 (GRCm39) |
R915* |
probably null |
Het |
| Myh6 |
C |
A |
14: 55,187,581 (GRCm39) |
V1263L |
probably benign |
Het |
| Nt5m |
C |
A |
11: 59,765,415 (GRCm39) |
L148M |
probably benign |
Het |
| Or4a67 |
A |
G |
2: 88,597,921 (GRCm39) |
V246A |
possibly damaging |
Het |
| Or51t4 |
A |
T |
7: 102,597,921 (GRCm39) |
D83V |
probably damaging |
Het |
| Or8k21 |
T |
C |
2: 86,145,142 (GRCm39) |
I163V |
possibly damaging |
Het |
| Pbrm1 |
T |
A |
14: 30,789,818 (GRCm39) |
F811I |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,256,069 (GRCm39) |
S724P |
probably damaging |
Het |
| Pfdn5 |
C |
A |
15: 102,237,158 (GRCm39) |
D98E |
probably benign |
Het |
| Ptprs |
G |
A |
17: 56,721,980 (GRCm39) |
P1715S |
probably damaging |
Het |
| Rtkn2 |
T |
A |
10: 67,823,291 (GRCm39) |
L65Q |
probably damaging |
Het |
| Scn2a |
G |
A |
2: 65,518,763 (GRCm39) |
R379H |
probably damaging |
Het |
| Scn5a |
G |
T |
9: 119,363,636 (GRCm39) |
D501E |
possibly damaging |
Het |
| Spn |
C |
A |
7: 126,735,611 (GRCm39) |
G299W |
probably damaging |
Het |
| St6galnac1 |
T |
C |
11: 116,660,175 (GRCm39) |
N46S |
probably benign |
Het |
| Stx19 |
A |
G |
16: 62,642,871 (GRCm39) |
D229G |
probably benign |
Het |
| Tmc6 |
A |
T |
11: 117,663,556 (GRCm39) |
M552K |
possibly damaging |
Het |
| Tnpo3 |
G |
C |
6: 29,555,221 (GRCm39) |
D787E |
possibly damaging |
Het |
| Tyw5 |
T |
C |
1: 57,427,674 (GRCm39) |
Y310C |
probably damaging |
Het |
| Vmn2r15 |
A |
G |
5: 109,434,871 (GRCm39) |
F611S |
probably damaging |
Het |
| Vmn2r49 |
C |
T |
7: 9,722,988 (GRCm39) |
M95I |
probably benign |
Het |
| Wfdc8 |
A |
G |
2: 164,445,223 (GRCm39) |
S131P |
probably benign |
Het |
| Zfp407 |
A |
T |
18: 84,450,545 (GRCm39) |
M1597K |
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 |
|
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 |
|
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'- CTCCAACACCAAATGGGGATG -3'
(R):5'- TAGTCCCGATCCTGAGACAG -3'
Sequencing Primer
(F):5'- GATGACCCGGCCTCCAC -3'
(R):5'- CGATCCTGAGACAGAGTCAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation