Incidental Mutation 'R7305:Fhip1a'
| ID |
567217 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhip1a
|
| Ensembl Gene |
ENSMUSG00000051000 |
| Gene Name |
FHF complex subunit HOOK interacting protein 1A |
| Synonyms |
9930021J17Rik, Fam160a1 |
| MMRRC Submission |
045407-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7305 (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 85637831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 156
(P156Q)
|
| 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: P156Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: P156Q
| 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: P156Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: P156Q
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
A |
T |
2: 181,135,209 (GRCm39) |
D37V |
possibly damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,765,258 (GRCm39) |
D87G |
|
Het |
| Ankrd31 |
A |
G |
13: 97,015,479 (GRCm39) |
S1583G |
probably damaging |
Het |
| Ankub1 |
T |
C |
3: 57,599,938 (GRCm39) |
|
probably benign |
Het |
| Apba3 |
A |
G |
10: 81,107,067 (GRCm39) |
D264G |
probably damaging |
Het |
| Armh3 |
A |
T |
19: 45,880,560 (GRCm39) |
M508K |
probably benign |
Het |
| Asap1 |
G |
A |
15: 64,002,099 (GRCm39) |
T404M |
probably damaging |
Het |
| Cnot3 |
A |
T |
7: 3,648,479 (GRCm39) |
|
probably benign |
Het |
| Cxxc1 |
A |
G |
18: 74,352,467 (GRCm39) |
Y349C |
probably benign |
Het |
| Cyfip1 |
AGTGT |
AGT |
7: 55,577,937 (GRCm39) |
|
probably null |
Het |
| Cyp3a57 |
A |
G |
5: 145,307,795 (GRCm39) |
I184V |
probably benign |
Het |
| D130052B06Rik |
GTCTACACTGTCCTGCACAGGTGACCCATCTACCCCGTCCTATCCTGGCGACCCATCTACACTGTCCTG |
GTCTACACTGTCCTG |
11: 33,573,355 (GRCm39) |
|
probably null |
Het |
| Dab1 |
T |
A |
4: 104,570,987 (GRCm39) |
D210E |
|
Het |
| Elavl1 |
G |
A |
8: 4,375,199 (GRCm39) |
|
probably benign |
Het |
| Emilin1 |
C |
T |
5: 31,074,433 (GRCm39) |
Q225* |
probably null |
Het |
| Eml6 |
G |
T |
11: 29,727,258 (GRCm39) |
A1288E |
probably benign |
Het |
| Eno1 |
T |
C |
4: 150,329,796 (GRCm39) |
|
probably null |
Het |
| Eprs1 |
C |
T |
1: 185,111,898 (GRCm39) |
R303C |
probably damaging |
Het |
| Eps15l1 |
G |
A |
8: 73,126,878 (GRCm39) |
A651V |
probably benign |
Het |
| Etl4 |
A |
T |
2: 20,714,368 (GRCm39) |
I156F |
probably damaging |
Het |
| Faim2 |
A |
T |
15: 99,411,814 (GRCm39) |
I171N |
probably damaging |
Het |
| Fam135a |
T |
A |
1: 24,069,939 (GRCm39) |
N381I |
probably damaging |
Het |
| Gabrg3 |
T |
A |
7: 56,384,833 (GRCm39) |
M243L |
probably benign |
Het |
| Garin2 |
A |
G |
12: 78,761,809 (GRCm39) |
K158E |
possibly damaging |
Het |
| Gm5134 |
A |
G |
10: 75,836,233 (GRCm39) |
I405V |
probably damaging |
Het |
| Gm9376 |
A |
T |
14: 118,504,768 (GRCm39) |
K67* |
probably null |
Het |
| Grm8 |
A |
T |
6: 27,761,354 (GRCm39) |
I290K |
possibly damaging |
Het |
| Hao1 |
T |
A |
2: 134,390,121 (GRCm39) |
M73L |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,369,150 (GRCm39) |
D452G |
|
Het |
| Idh3b |
C |
A |
2: 130,123,413 (GRCm39) |
K192N |
possibly damaging |
Het |
| Igkv6-23 |
A |
G |
6: 70,237,553 (GRCm39) |
S63P |
probably benign |
Het |
| Itgb2 |
A |
C |
10: 77,384,398 (GRCm39) |
D173A |
probably damaging |
Het |
| Jmjd8 |
A |
T |
17: 26,049,301 (GRCm39) |
T255S |
probably benign |
Het |
| Lamc3 |
A |
C |
2: 31,820,714 (GRCm39) |
E1243A |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,129,939 (GRCm39) |
T252A |
probably damaging |
Het |
| Mrgpra1 |
C |
A |
7: 46,985,203 (GRCm39) |
A159S |
probably benign |
Het |
| Ndst3 |
T |
C |
3: 123,395,131 (GRCm39) |
I500V |
possibly damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,407,434 (GRCm39) |
T1523A |
possibly damaging |
Het |
| Nr2f1 |
A |
G |
13: 78,343,298 (GRCm39) |
I322T |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,064,948 (GRCm39) |
E184G |
probably damaging |
Het |
| Obsl1 |
C |
T |
1: 75,470,590 (GRCm39) |
W1022* |
probably null |
Het |
| Or2l13 |
T |
A |
16: 19,306,449 (GRCm39) |
I287N |
probably damaging |
Het |
| Or4a77 |
T |
A |
2: 89,486,846 (GRCm39) |
H313L |
probably benign |
Het |
| Or52p2 |
G |
T |
7: 102,237,162 (GRCm39) |
Q263K |
possibly damaging |
Het |
| Or5p51 |
A |
T |
7: 107,444,572 (GRCm39) |
Y123N |
probably damaging |
Het |
| Or6c1 |
A |
T |
10: 129,518,149 (GRCm39) |
I153N |
probably damaging |
Het |
| Or6c65 |
T |
A |
10: 129,603,720 (GRCm39) |
Y118* |
probably null |
Het |
| Otulinl |
A |
G |
15: 27,658,319 (GRCm39) |
C184R |
probably benign |
Het |
| Oxr1 |
C |
T |
15: 41,677,004 (GRCm39) |
P187L |
not run |
Het |
| Parp8 |
A |
G |
13: 117,031,461 (GRCm39) |
L417P |
possibly damaging |
Het |
| Pdia6 |
A |
G |
12: 17,324,509 (GRCm39) |
Q120R |
probably benign |
Het |
| Ppp3cc |
T |
C |
14: 70,478,252 (GRCm39) |
N290S |
probably benign |
Het |
| Prdm5 |
C |
A |
6: 65,808,244 (GRCm39) |
S63R |
possibly damaging |
Het |
| Prr14l |
T |
C |
5: 32,988,445 (GRCm39) |
D350G |
probably benign |
Het |
| Pwwp2a |
T |
C |
11: 43,607,878 (GRCm39) |
L497S |
probably damaging |
Het |
| R3hdm2 |
A |
G |
10: 127,312,547 (GRCm39) |
N430D |
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,344 (GRCm39) |
N422S |
possibly damaging |
Het |
| Rbbp8 |
G |
A |
18: 11,805,638 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCAGCGGCGGC |
7: 97,229,125 (GRCm39) |
|
probably benign |
Het |
| Slc22a6 |
G |
A |
19: 8,599,522 (GRCm39) |
|
probably null |
Het |
| Slc28a3 |
T |
A |
13: 58,714,045 (GRCm39) |
E440V |
possibly damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,947,932 (GRCm39) |
I482K |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,870,223 (GRCm39) |
F305Y |
probably damaging |
Het |
| Slco1a8 |
G |
A |
6: 141,938,220 (GRCm39) |
A253V |
probably damaging |
Het |
| Slco4c1 |
T |
C |
1: 96,756,690 (GRCm39) |
N544S |
probably damaging |
Het |
| Smpd4 |
T |
A |
16: 17,459,647 (GRCm39) |
I656N |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,120,953 (GRCm39) |
I4019K |
probably benign |
Het |
| Taok1 |
A |
T |
11: 77,432,500 (GRCm39) |
L771* |
probably null |
Het |
| Tmem231 |
T |
C |
8: 112,641,927 (GRCm39) |
D209G |
possibly damaging |
Het |
| Tmem25 |
A |
G |
9: 44,706,705 (GRCm39) |
|
probably null |
Het |
| Tmem79 |
T |
C |
3: 88,240,718 (GRCm39) |
T77A |
probably benign |
Het |
| Topbp1 |
A |
T |
9: 103,205,836 (GRCm39) |
T825S |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,853,455 (GRCm39) |
Q1825L |
probably benign |
Het |
| Uba1y |
T |
A |
Y: 821,348 (GRCm39) |
D110E |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,261,280 (GRCm39) |
N3422K |
probably benign |
Het |
| Vmn1r219 |
A |
T |
13: 23,347,314 (GRCm39) |
M168L |
probably benign |
Het |
| Vmn2r62 |
T |
C |
7: 42,414,235 (GRCm39) |
H736R |
possibly damaging |
Het |
| Wdr1 |
T |
C |
5: 38,697,435 (GRCm39) |
H291R |
possibly damaging |
Het |
| Zan |
T |
C |
5: 137,413,401 (GRCm39) |
T3177A |
unknown |
Het |
| Zbtb21 |
T |
C |
16: 97,752,495 (GRCm39) |
H596R |
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 |
|
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'- ATGTGATTGGCCACCATGC -3'
(R):5'- TGGAAAAGCTCTTCCTTTGGAG -3'
Sequencing Primer
(F):5'- GTGATTGGCCACCATGCTGTTC -3'
(R):5'- CTTTGGAGCTTGAGACGAGAATTCAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation