Incidental Mutation 'R2235:Fhip1a'
ID |
240379 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fhip1a
|
Ensembl Gene |
ENSMUSG00000051000 |
Gene Name |
FHF complex subunit HOOK interacting protein 1A |
Synonyms |
9930021J17Rik, Fam160a1 |
MMRRC Submission |
040236-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2235 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
85567370-85653516 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 85568408 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 1037
(L1037Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113235
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094148]
[ENSMUST00000118408]
[ENSMUST00000119077]
[ENSMUST00000154148]
|
AlphaFold |
Q505K2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094148
AA Change: L1037Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000091700 Gene: ENSMUSG00000051000 AA Change: L1037Q
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: L1037Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113235 Gene: ENSMUSG00000051000 AA Change: L1037Q
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 |
noncoding transcript
Transcript: ENSMUST00000126445
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
C |
6: 121,619,023 (GRCm39) |
V256A |
probably benign |
Het |
Acbd6 |
A |
G |
1: 155,434,454 (GRCm39) |
D24G |
probably damaging |
Het |
Adcy2 |
A |
T |
13: 68,816,611 (GRCm39) |
Y792N |
probably damaging |
Het |
Alpk1 |
T |
C |
3: 127,474,569 (GRCm39) |
K478R |
probably benign |
Het |
Atad2b |
T |
G |
12: 5,056,745 (GRCm39) |
F867C |
probably damaging |
Het |
Bach1 |
A |
G |
16: 87,517,001 (GRCm39) |
D514G |
probably damaging |
Het |
BC035947 |
A |
T |
1: 78,474,599 (GRCm39) |
D644E |
probably damaging |
Het |
Chrm4 |
A |
G |
2: 91,758,875 (GRCm39) |
S428G |
probably benign |
Het |
Clca3a1 |
G |
T |
3: 144,714,829 (GRCm39) |
P596Q |
possibly damaging |
Het |
Cldn34b3 |
A |
T |
X: 75,310,830 (GRCm39) |
I133F |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Crh |
A |
T |
3: 19,748,096 (GRCm39) |
M182K |
probably damaging |
Het |
Csta1 |
C |
T |
16: 35,945,445 (GRCm39) |
V23I |
probably damaging |
Het |
Cts6 |
T |
A |
13: 61,343,247 (GRCm39) |
I325F |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,077,068 (GRCm39) |
D2347G |
probably damaging |
Het |
Dync1i2 |
C |
T |
2: 71,079,764 (GRCm39) |
Q419* |
probably null |
Het |
E2f4 |
T |
A |
8: 106,025,283 (GRCm39) |
V121E |
probably damaging |
Het |
Fndc11 |
A |
G |
2: 180,864,067 (GRCm39) |
S291G |
possibly damaging |
Het |
Hid1 |
A |
G |
11: 115,241,945 (GRCm39) |
I555T |
probably damaging |
Het |
Hyou1 |
C |
T |
9: 44,300,388 (GRCm39) |
T855M |
probably benign |
Het |
Igf1r |
T |
A |
7: 67,861,828 (GRCm39) |
N1129K |
probably damaging |
Het |
Iglon5 |
T |
C |
7: 43,130,062 (GRCm39) |
E34G |
probably damaging |
Het |
Itprid1 |
A |
T |
6: 55,874,797 (GRCm39) |
H249L |
possibly damaging |
Het |
Kcnab1 |
T |
A |
3: 65,226,888 (GRCm39) |
V189D |
probably damaging |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Lrrc49 |
A |
T |
9: 60,505,440 (GRCm39) |
F538L |
possibly damaging |
Het |
Ly6h |
A |
G |
15: 75,437,038 (GRCm39) |
S113P |
probably benign |
Het |
Mto1 |
A |
C |
9: 78,364,846 (GRCm39) |
T362P |
possibly damaging |
Het |
Myot |
A |
G |
18: 44,487,339 (GRCm39) |
D392G |
probably damaging |
Het |
Or10a3 |
A |
G |
7: 108,480,172 (GRCm39) |
F214L |
probably benign |
Het |
Or6z5 |
T |
C |
7: 6,477,441 (GRCm39) |
S111P |
possibly damaging |
Het |
Osbpl6 |
T |
C |
2: 76,417,113 (GRCm39) |
F577L |
probably damaging |
Het |
Otc |
A |
G |
X: 10,169,606 (GRCm39) |
Q216R |
probably benign |
Het |
Pds5a |
A |
T |
5: 65,811,441 (GRCm39) |
F331I |
probably damaging |
Het |
Pld3 |
G |
A |
7: 27,240,532 (GRCm39) |
T136M |
probably benign |
Het |
Prph2 |
A |
T |
17: 47,222,092 (GRCm39) |
D157V |
probably damaging |
Het |
Racgap1 |
A |
G |
15: 99,524,417 (GRCm39) |
S357P |
probably benign |
Het |
Ralgapa1 |
A |
T |
12: 55,763,856 (GRCm39) |
H1403Q |
probably benign |
Het |
Rnf216 |
G |
A |
5: 143,076,681 (GRCm39) |
H68Y |
probably benign |
Het |
Scgb1b27 |
T |
C |
7: 33,721,249 (GRCm39) |
Y46H |
probably damaging |
Het |
Sel1l2 |
T |
C |
2: 140,086,085 (GRCm39) |
Y502C |
probably damaging |
Het |
Sis |
A |
T |
3: 72,820,527 (GRCm39) |
F1412L |
probably benign |
Het |
Slc4a11 |
T |
C |
2: 130,527,544 (GRCm39) |
E617G |
probably benign |
Het |
Smap1 |
T |
C |
1: 23,898,139 (GRCm39) |
N99S |
probably benign |
Het |
Smg7 |
A |
T |
1: 152,744,064 (GRCm39) |
Y40N |
probably damaging |
Het |
Sox4 |
C |
T |
13: 29,136,613 (GRCm39) |
R131Q |
probably damaging |
Het |
Spaca6 |
T |
C |
17: 18,058,507 (GRCm39) |
|
probably null |
Het |
Tbx18 |
G |
T |
9: 87,606,403 (GRCm39) |
S247R |
probably damaging |
Het |
Tenm3 |
T |
C |
8: 48,729,204 (GRCm39) |
I1601V |
probably benign |
Het |
Thap4 |
G |
T |
1: 93,652,934 (GRCm39) |
Q441K |
probably benign |
Het |
Tmprss11c |
G |
T |
5: 86,429,945 (GRCm39) |
T40K |
probably benign |
Het |
Tpr |
T |
A |
1: 150,317,843 (GRCm39) |
F2117Y |
probably benign |
Het |
Traf5 |
T |
C |
1: 191,738,806 (GRCm39) |
M125V |
probably damaging |
Het |
Trim65 |
G |
T |
11: 116,021,503 (GRCm39) |
T110K |
possibly damaging |
Het |
Ubp1 |
T |
G |
9: 113,793,712 (GRCm39) |
S340R |
probably damaging |
Het |
Vit |
T |
C |
17: 78,912,867 (GRCm39) |
S267P |
probably benign |
Het |
Vmn2r124 |
A |
T |
17: 18,269,927 (GRCm39) |
H61L |
possibly damaging |
Het |
Zfp990 |
T |
A |
4: 145,264,461 (GRCm39) |
H486Q |
probably damaging |
Het |
Zkscan6 |
T |
C |
11: 65,719,098 (GRCm39) |
S373P |
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 |
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'- GCAGCTTTGCATTTAACATTCAGTC -3'
(R):5'- TGCAGATCTAGTCGGGAGAG -3'
Sequencing Primer
(F):5'- GCATTTAACATTCAGTCAAGACAC -3'
(R):5'- GAGAGGAACTGCACCCACTACTATTC -3'
|
Posted On |
2014-10-15 |