Incidental Mutation 'R9324:Fhip1a'
| ID |
706362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhip1a
|
| Ensembl Gene |
ENSMUSG00000051000 |
| Gene Name |
FHF complex subunit HOOK interacting protein 1A |
| Synonyms |
9930021J17Rik, Fam160a1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9324 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
85567370-85653516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85638053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 82
(D82G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094148]
[ENSMUST00000118408]
[ENSMUST00000119077]
[ENSMUST00000154148]
|
| AlphaFold |
Q505K2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094148
AA Change: D82G
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: D82G
| 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: D82G
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: D82G
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
A |
G |
7: 119,179,856 (GRCm39) |
H358R |
probably benign |
Het |
| Arid3c |
A |
G |
4: 41,730,138 (GRCm39) |
L19S |
possibly damaging |
Het |
| Arpp21 |
T |
A |
9: 111,986,765 (GRCm39) |
D262V |
probably damaging |
Het |
| Atp4a |
A |
C |
7: 30,415,207 (GRCm39) |
I276L |
probably benign |
Het |
| Axl |
C |
G |
7: 25,460,982 (GRCm39) |
E676Q |
probably damaging |
Het |
| Ces1g |
T |
C |
8: 94,055,118 (GRCm39) |
D193G |
probably damaging |
Het |
| Crym |
A |
G |
7: 119,789,005 (GRCm39) |
V274A |
probably damaging |
Het |
| Efcab5 |
T |
A |
11: 77,004,546 (GRCm39) |
H924L |
possibly damaging |
Het |
| Eif1ad7 |
T |
A |
12: 88,238,709 (GRCm39) |
N17I |
unknown |
Het |
| Eif3l |
T |
A |
15: 78,978,423 (GRCm39) |
M560K |
probably benign |
Het |
| Fam234b |
C |
A |
6: 135,202,793 (GRCm39) |
Y382* |
probably null |
Het |
| Fbxw19 |
T |
C |
9: 109,313,440 (GRCm39) |
K253E |
possibly damaging |
Het |
| Flt3 |
A |
G |
5: 147,313,790 (GRCm39) |
S87P |
probably benign |
Het |
| Garin3 |
A |
T |
11: 46,295,810 (GRCm39) |
I61F |
|
Het |
| Ggnbp2 |
A |
G |
11: 84,725,174 (GRCm39) |
L627S |
probably damaging |
Het |
| Gm26661 |
T |
G |
14: 7,791,765 (GRCm38) |
V60G |
unknown |
Het |
| Golt1a |
T |
C |
1: 133,247,094 (GRCm39) |
L34P |
probably damaging |
Het |
| Gp5 |
T |
C |
16: 30,127,808 (GRCm39) |
M289V |
possibly damaging |
Het |
| Gpr63 |
C |
G |
4: 25,008,432 (GRCm39) |
H385Q |
possibly damaging |
Het |
| Hcn1 |
G |
A |
13: 118,111,901 (GRCm39) |
V622I |
unknown |
Het |
| Hipk4 |
A |
G |
7: 27,228,834 (GRCm39) |
D428G |
probably damaging |
Het |
| Hs3st1 |
T |
C |
5: 39,772,145 (GRCm39) |
Y166C |
probably damaging |
Het |
| Hsd17b3 |
A |
G |
13: 64,206,459 (GRCm39) |
F281S |
possibly damaging |
Het |
| Ifih1 |
T |
C |
2: 62,475,950 (GRCm39) |
T109A |
probably benign |
Het |
| Ighv1-64 |
T |
A |
12: 115,471,645 (GRCm39) |
|
probably benign |
Het |
| Ina |
T |
C |
19: 47,003,816 (GRCm39) |
L208P |
|
Het |
| Iqcn |
C |
T |
8: 71,161,794 (GRCm39) |
T329I |
possibly damaging |
Het |
| Irak2 |
T |
C |
6: 113,615,604 (GRCm39) |
|
probably null |
Het |
| Klhl10 |
G |
A |
11: 100,338,481 (GRCm39) |
E407K |
probably benign |
Het |
| Krt81 |
A |
G |
15: 101,361,335 (GRCm39) |
S82P |
probably damaging |
Het |
| Ktn1 |
C |
A |
14: 47,948,353 (GRCm39) |
Q963K |
probably benign |
Het |
| Lgalsl2 |
G |
A |
7: 5,362,527 (GRCm39) |
V53I |
possibly damaging |
Het |
| Lrrc42 |
A |
T |
4: 107,104,913 (GRCm39) |
Y17* |
probably null |
Het |
| Lrrc9 |
A |
C |
12: 72,496,171 (GRCm39) |
E15D |
probably damaging |
Het |
| Mak |
G |
A |
13: 41,202,839 (GRCm39) |
T203I |
probably benign |
Het |
| Masp2 |
T |
C |
4: 148,692,485 (GRCm39) |
V326A |
possibly damaging |
Het |
| Mdc1 |
T |
C |
17: 36,164,258 (GRCm39) |
S1269P |
probably benign |
Het |
| Mink1 |
G |
A |
11: 70,502,477 (GRCm39) |
V1027M |
probably damaging |
Het |
| Mrps10 |
C |
A |
17: 47,686,903 (GRCm39) |
S123* |
probably null |
Het |
| Myl10 |
C |
T |
5: 136,729,787 (GRCm39) |
H142Y |
probably damaging |
Het |
| Ncan |
T |
C |
8: 70,560,648 (GRCm39) |
Q773R |
possibly damaging |
Het |
| Nlrp3 |
T |
A |
11: 59,434,141 (GRCm39) |
M68K |
probably damaging |
Het |
| Ntrk1 |
C |
T |
3: 87,698,745 (GRCm39) |
V99M |
possibly damaging |
Het |
| Odad3 |
T |
C |
9: 21,903,207 (GRCm39) |
E402G |
probably damaging |
Het |
| Or4p22 |
C |
T |
2: 88,317,787 (GRCm39) |
T237I |
probably damaging |
Het |
| Or5an1 |
A |
G |
19: 12,260,939 (GRCm39) |
R176G |
probably benign |
Het |
| Or8c8 |
A |
G |
9: 38,164,962 (GRCm39) |
K80R |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,595,437 (GRCm39) |
V830A |
probably damaging |
Het |
| Phospho2 |
T |
C |
2: 69,625,913 (GRCm39) |
V23A |
probably damaging |
Het |
| Plxnc1 |
G |
A |
10: 94,780,685 (GRCm39) |
|
probably benign |
Het |
| Ppcdc |
T |
C |
9: 57,342,280 (GRCm39) |
E14G |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,302,645 (GRCm39) |
Y106C |
probably damaging |
Het |
| Rgs22 |
T |
C |
15: 36,087,544 (GRCm39) |
Q582R |
probably benign |
Het |
| Rngtt |
T |
A |
4: 33,320,613 (GRCm39) |
Y53* |
probably null |
Het |
| Slc12a3 |
T |
G |
8: 95,083,028 (GRCm39) |
|
probably null |
Het |
| Slc26a11 |
A |
G |
11: 119,267,730 (GRCm39) |
T456A |
probably benign |
Het |
| Slc26a5 |
G |
T |
5: 22,018,334 (GRCm39) |
A677E |
possibly damaging |
Het |
| Smurf1 |
T |
C |
5: 144,817,463 (GRCm39) |
T690A |
probably benign |
Het |
| Spata24 |
A |
T |
18: 35,790,064 (GRCm39) |
N142K |
probably damaging |
Het |
| Ubqlnl |
A |
T |
7: 103,798,962 (GRCm39) |
N178K |
possibly damaging |
Het |
| Uggt2 |
A |
G |
14: 119,312,741 (GRCm39) |
|
probably null |
Het |
| Vmn1r2 |
C |
A |
4: 3,172,678 (GRCm39) |
A199D |
probably damaging |
Het |
| Vmn2r39 |
T |
C |
7: 9,030,684 (GRCm39) |
N128S |
probably damaging |
Het |
| Vmn2r61 |
G |
T |
7: 41,916,619 (GRCm39) |
V411F |
probably benign |
Het |
| Vmn2r-ps117 |
T |
A |
17: 19,042,911 (GRCm39) |
F106L |
probably benign |
Het |
| Zfp503 |
A |
T |
14: 22,035,353 (GRCm39) |
I521N |
possibly damaging |
Het |
| Zfp831 |
T |
C |
2: 174,547,113 (GRCm39) |
V1432A |
probably benign |
Het |
| Zfp981 |
T |
A |
4: 146,619,884 (GRCm39) |
L13I |
possibly 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 |
|
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 |
|
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'- TCATGAGGGGCTTCAGGATG -3'
(R):5'- CCTGTGAATTTGGTAAAGCAAGTG -3'
Sequencing Primer
(F):5'- ATGGGCTTGTGGTGCAGC -3'
(R):5'- TATTATGGTAAATGGCAGTAGGTGAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation