Incidental Mutation 'R9654:Fhip1a'
| ID |
727251 |
| 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 # |
R9654 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
85567370-85653516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 85579532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 891
(T891K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094148]
[ENSMUST00000118408]
[ENSMUST00000119077]
[ENSMUST00000154148]
|
| AlphaFold |
Q505K2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094148
AA Change: T891K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: T891K
| 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 damaging
Transcript: ENSMUST00000118408
AA Change: T891K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: T891K
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
C |
15: 81,948,916 (GRCm39) |
S938P |
possibly damaging |
Het |
| Abca17 |
G |
T |
17: 24,536,099 (GRCm39) |
H523N |
probably benign |
Het |
| Alx1 |
T |
A |
10: 102,858,093 (GRCm39) |
H202L |
probably benign |
Het |
| Amotl1 |
T |
A |
9: 14,462,981 (GRCm39) |
H744L |
probably benign |
Het |
| Ankrd50 |
A |
T |
3: 38,511,018 (GRCm39) |
S450T |
probably benign |
Het |
| Aoc1l1 |
T |
C |
6: 48,952,837 (GRCm39) |
L254P |
probably damaging |
Het |
| Arhgef25 |
C |
T |
10: 127,021,955 (GRCm39) |
S200N |
probably damaging |
Het |
| Arl4c |
G |
T |
1: 88,629,361 (GRCm39) |
S9* |
probably null |
Het |
| Bod1l |
A |
G |
5: 41,975,707 (GRCm39) |
M1869T |
probably benign |
Het |
| Btnl6 |
G |
A |
17: 34,733,140 (GRCm39) |
P241L |
probably damaging |
Het |
| Cacng8 |
C |
T |
7: 3,443,002 (GRCm39) |
R88W |
probably damaging |
Het |
| Ccdc154 |
C |
T |
17: 25,386,684 (GRCm39) |
T262I |
possibly damaging |
Het |
| Clmn |
C |
A |
12: 104,748,193 (GRCm39) |
E451D |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,593,904 (GRCm39) |
I3416L |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,927,156 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
A |
7: 119,641,396 (GRCm39) |
K1175* |
probably null |
Het |
| Dock8 |
C |
T |
19: 25,124,710 (GRCm39) |
R1009W |
probably damaging |
Het |
| Fkbp15 |
A |
G |
4: 62,230,553 (GRCm39) |
V720A |
probably benign |
Het |
| Fryl |
G |
T |
5: 73,275,801 (GRCm39) |
P121Q |
probably benign |
Het |
| H2-Q6 |
C |
T |
17: 35,644,185 (GRCm39) |
R56C |
probably damaging |
Het |
| Hbs1l |
T |
C |
10: 21,183,604 (GRCm39) |
V115A |
possibly damaging |
Het |
| Heatr5a |
G |
A |
12: 52,005,778 (GRCm39) |
P66S |
probably damaging |
Het |
| Hsd17b4 |
A |
G |
18: 50,272,533 (GRCm39) |
D44G |
probably benign |
Het |
| Idh3a |
T |
C |
9: 54,497,182 (GRCm39) |
V41A |
probably benign |
Het |
| Itih1 |
T |
A |
14: 30,664,870 (GRCm39) |
K37M |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,101,266 (GRCm39) |
T1920A |
|
Het |
| Ltn1 |
G |
C |
16: 87,207,227 (GRCm39) |
D904E |
probably benign |
Het |
| Map6 |
T |
C |
7: 98,986,166 (GRCm39) |
I893T |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mr1 |
T |
C |
1: 155,013,430 (GRCm39) |
H49R |
possibly damaging |
Het |
| Myh2 |
T |
C |
11: 67,088,171 (GRCm39) |
V1929A |
probably benign |
Het |
| Ncoa4 |
C |
A |
14: 31,896,465 (GRCm39) |
P230Q |
probably benign |
Het |
| Npy4r |
T |
A |
14: 33,869,081 (GRCm39) |
Q69L |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Nus1 |
T |
G |
10: 52,294,130 (GRCm39) |
L98R |
possibly damaging |
Het |
| Or10ag55-ps1 |
C |
T |
2: 87,115,071 (GRCm39) |
L146F |
probably benign |
Het |
| Or14c42-ps1 |
T |
A |
7: 86,210,950 (GRCm39) |
N3K |
unknown |
Het |
| Or2w4 |
T |
C |
13: 21,795,915 (GRCm39) |
T75A |
possibly damaging |
Het |
| Or4c11b |
T |
C |
2: 88,625,263 (GRCm39) |
L179S |
probably damaging |
Het |
| Or5k17 |
T |
A |
16: 58,746,752 (GRCm39) |
I61F |
probably benign |
Het |
| Pcdha11 |
A |
C |
18: 37,145,333 (GRCm39) |
T475P |
probably damaging |
Het |
| Pex5l |
C |
A |
3: 33,010,827 (GRCm39) |
A384S |
probably benign |
Het |
| Pgk2 |
T |
A |
17: 40,518,651 (GRCm39) |
D259V |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,166,028 (GRCm39) |
M52V |
probably benign |
Het |
| Rsph6a |
T |
A |
7: 18,799,332 (GRCm39) |
L321Q |
probably damaging |
Het |
| Sugp1 |
T |
A |
8: 70,522,656 (GRCm39) |
M452K |
probably damaging |
Het |
| Sult2a6 |
T |
G |
7: 13,956,445 (GRCm39) |
D272A |
probably benign |
Het |
| Tlr6 |
A |
T |
5: 65,112,697 (GRCm39) |
L70Q |
probably damaging |
Het |
| Tmem178b |
A |
T |
6: 40,222,534 (GRCm39) |
Y83F |
probably benign |
Het |
| Tmprss4 |
C |
T |
9: 45,090,700 (GRCm39) |
|
probably null |
Het |
| Trpv4 |
A |
G |
5: 114,764,887 (GRCm39) |
L709P |
probably benign |
Het |
| Utp15 |
G |
A |
13: 98,385,668 (GRCm39) |
T519M |
probably benign |
Het |
| Vmn2r59 |
T |
C |
7: 41,693,217 (GRCm39) |
N461S |
probably benign |
Het |
| Zap70 |
T |
C |
1: 36,818,327 (GRCm39) |
V338A |
probably benign |
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 |
|
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 |
|
Z1176:Fhip1a
|
UTSW |
3 |
85,580,508 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTCAGAACTTAAAGTCTGACTTG -3'
(R):5'- AGAGCATCCCTATCTCAGAGCC -3'
Sequencing Primer
(F):5'- AGTCTGACTTGATAAACAAATCCATC -3'
(R):5'- CCTCACTTCTTACACAGCAGG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation