Incidental Mutation 'R6788:Ahctf1'
ID |
532464 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ahctf1
|
Ensembl Gene |
ENSMUSG00000026491 |
Gene Name |
AT hook containing transcription factor 1 |
Synonyms |
Elys, 6230412P20Rik |
MMRRC Submission |
044902-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6788 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
179572459-179631245 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 179580199 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 2001
(V2001E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027768
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027768]
[ENSMUST00000125816]
|
AlphaFold |
Q8CJF7 |
PDB Structure |
Nucleoporin ELYS (aa1-494), Mus musculus [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000027768
AA Change: V2001E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000027768 Gene: ENSMUSG00000026491 AA Change: V2001E
Domain | Start | End | E-Value | Type |
Pfam:ELYS-bb
|
1 |
489 |
1.6e-307 |
PFAM |
Pfam:ELYS
|
722 |
955 |
2.5e-58 |
PFAM |
low complexity region
|
1138 |
1155 |
N/A |
INTRINSIC |
low complexity region
|
1180 |
1192 |
N/A |
INTRINSIC |
low complexity region
|
1352 |
1366 |
N/A |
INTRINSIC |
low complexity region
|
1597 |
1610 |
N/A |
INTRINSIC |
low complexity region
|
1684 |
1694 |
N/A |
INTRINSIC |
low complexity region
|
1834 |
1841 |
N/A |
INTRINSIC |
low complexity region
|
1918 |
1935 |
N/A |
INTRINSIC |
AT_hook
|
1955 |
1967 |
3.35e-1 |
SMART |
low complexity region
|
2060 |
2066 |
N/A |
INTRINSIC |
low complexity region
|
2073 |
2084 |
N/A |
INTRINSIC |
low complexity region
|
2096 |
2108 |
N/A |
INTRINSIC |
Blast:KISc
|
2164 |
2217 |
2e-12 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125816
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140489
|
SMART Domains |
Protein: ENSMUSP00000115253 Gene: ENSMUSG00000026491
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.4%
|
Validation Efficiency |
97% (68/70) |
MGI Phenotype |
PHENOTYPE: Homozygous null mice die between E3.5 and E5.5. The inner cell mass cells exhibit impaired proliferation and apoptosis when grown in culture. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahsg |
A |
G |
16: 22,713,585 (GRCm39) |
D122G |
probably benign |
Het |
Ank3 |
A |
G |
10: 69,840,553 (GRCm39) |
Y1616C |
probably damaging |
Het |
Arhgef1 |
A |
G |
7: 24,619,205 (GRCm39) |
|
probably null |
Het |
Atp7b |
T |
C |
8: 22,494,391 (GRCm39) |
I1023V |
probably benign |
Het |
Bod1l |
A |
T |
5: 41,979,216 (GRCm39) |
Y699* |
probably null |
Het |
Car12 |
C |
T |
9: 66,659,244 (GRCm39) |
S183L |
probably damaging |
Het |
Cep290 |
T |
C |
10: 100,324,490 (GRCm39) |
S57P |
probably damaging |
Het |
Cep57l1 |
T |
C |
10: 41,619,145 (GRCm39) |
D74G |
probably damaging |
Het |
Cers6 |
T |
C |
2: 68,938,903 (GRCm39) |
Y374H |
possibly damaging |
Het |
Chmp4c |
T |
A |
3: 10,432,195 (GRCm39) |
M35K |
possibly damaging |
Het |
Crkl |
G |
A |
16: 17,301,645 (GRCm39) |
D300N |
probably damaging |
Het |
Cyp3a41a |
A |
G |
5: 145,642,639 (GRCm39) |
M240T |
probably benign |
Het |
Dipk2a |
C |
T |
9: 94,406,502 (GRCm39) |
V302I |
probably benign |
Het |
Dnah12 |
G |
T |
14: 26,523,470 (GRCm39) |
L1986F |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,867,439 (GRCm39) |
I297T |
probably benign |
Het |
Dock10 |
T |
A |
1: 80,508,962 (GRCm39) |
I1610F |
probably damaging |
Het |
Dpys |
T |
A |
15: 39,720,559 (GRCm39) |
H67L |
probably damaging |
Het |
Epc2 |
T |
G |
2: 49,422,099 (GRCm39) |
V331G |
probably benign |
Het |
Fnbp1l |
G |
A |
3: 122,339,956 (GRCm39) |
R344* |
probably null |
Het |
Gmip |
G |
T |
8: 70,263,824 (GRCm39) |
L89F |
possibly damaging |
Het |
Gmip |
G |
C |
8: 70,263,826 (GRCm39) |
R90P |
probably damaging |
Het |
Gpi1 |
A |
G |
7: 33,928,415 (GRCm39) |
S74P |
probably damaging |
Het |
Gys1 |
G |
A |
7: 45,094,102 (GRCm39) |
E406K |
probably damaging |
Het |
Hspg2 |
G |
A |
4: 137,242,618 (GRCm39) |
G611E |
probably damaging |
Het |
Klhl29 |
C |
T |
12: 5,134,393 (GRCm39) |
V673M |
probably damaging |
Het |
Lnpk |
T |
C |
2: 74,360,020 (GRCm39) |
T332A |
probably benign |
Het |
Loxl4 |
T |
C |
19: 42,596,792 (GRCm39) |
D60G |
probably damaging |
Het |
Lrr1 |
T |
C |
12: 69,221,449 (GRCm39) |
I197T |
probably damaging |
Het |
Map1lc3b |
A |
G |
8: 122,320,316 (GRCm39) |
N43S |
probably benign |
Het |
Map3k21 |
A |
T |
8: 126,666,605 (GRCm39) |
D599V |
probably benign |
Het |
Mastl |
T |
C |
2: 23,023,710 (GRCm39) |
N338D |
probably benign |
Het |
Mepe |
A |
T |
5: 104,486,074 (GRCm39) |
R405* |
probably null |
Het |
Mrps30 |
T |
C |
13: 118,516,908 (GRCm39) |
E437G |
probably benign |
Het |
Mup15 |
A |
G |
4: 61,356,465 (GRCm39) |
V100A |
possibly damaging |
Het |
Olfml1 |
A |
T |
7: 107,167,075 (GRCm39) |
I35F |
probably damaging |
Het |
Olfml2a |
T |
A |
2: 38,850,238 (GRCm39) |
Y651* |
probably null |
Het |
Or2h1b |
T |
A |
17: 37,462,713 (GRCm39) |
D50V |
probably damaging |
Het |
Otog |
T |
C |
7: 45,947,741 (GRCm39) |
V113A |
probably damaging |
Het |
Parvg |
C |
T |
15: 84,210,464 (GRCm39) |
L44F |
possibly damaging |
Het |
Pcnx2 |
G |
T |
8: 126,498,839 (GRCm39) |
D1553E |
probably damaging |
Het |
Pcyt2 |
C |
T |
11: 120,505,200 (GRCm39) |
G122S |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
Polq |
C |
T |
16: 36,897,510 (GRCm39) |
T2134I |
probably damaging |
Het |
Prkce |
T |
G |
17: 86,937,489 (GRCm39) |
F641V |
probably damaging |
Het |
Prss1 |
T |
C |
6: 41,440,654 (GRCm39) |
I243T |
possibly damaging |
Het |
Pxmp2 |
A |
G |
5: 110,429,185 (GRCm39) |
F91L |
probably benign |
Het |
Ralgapb |
G |
A |
2: 158,278,486 (GRCm39) |
G5R |
probably damaging |
Het |
Rasgef1a |
T |
G |
6: 118,064,174 (GRCm39) |
M337R |
possibly damaging |
Het |
Rassf2 |
A |
G |
2: 131,844,845 (GRCm39) |
M199T |
probably damaging |
Het |
Rtbdn |
A |
T |
8: 85,679,303 (GRCm39) |
Y67F |
probably null |
Het |
Scamp3 |
T |
C |
3: 89,089,256 (GRCm39) |
V271A |
probably benign |
Het |
Sema3a |
A |
T |
5: 13,647,584 (GRCm39) |
R613W |
possibly damaging |
Het |
Slc4a3 |
A |
T |
1: 75,527,959 (GRCm39) |
I206F |
probably damaging |
Het |
Slc9b1 |
A |
G |
3: 135,063,518 (GRCm39) |
|
probably null |
Het |
Smchd1 |
C |
A |
17: 71,782,096 (GRCm39) |
V22F |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,783,794 (GRCm39) |
|
probably benign |
Het |
Spaca7b |
T |
C |
8: 11,728,584 (GRCm39) |
E29G |
possibly damaging |
Het |
Spata31e4 |
A |
C |
13: 50,857,131 (GRCm39) |
H923P |
probably damaging |
Het |
Stab1 |
A |
G |
14: 30,861,117 (GRCm39) |
L89P |
probably damaging |
Het |
Stim1 |
A |
G |
7: 102,076,498 (GRCm39) |
E152G |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 49,127,528 (GRCm39) |
F50S |
probably damaging |
Het |
Tpgs2 |
T |
G |
18: 25,262,927 (GRCm39) |
N231H |
probably benign |
Het |
Trank1 |
T |
A |
9: 111,219,747 (GRCm39) |
N2161K |
probably damaging |
Het |
Trim28 |
A |
G |
7: 12,759,273 (GRCm39) |
D129G |
probably benign |
Het |
Trim66 |
A |
T |
7: 109,076,961 (GRCm39) |
I326N |
probably damaging |
Het |
Trim80 |
A |
T |
11: 115,338,843 (GRCm39) |
T558S |
probably benign |
Het |
Uggt1 |
T |
A |
1: 36,269,769 (GRCm39) |
T83S |
probably benign |
Het |
Wdr91 |
A |
G |
6: 34,863,754 (GRCm39) |
I587T |
probably damaging |
Het |
Zpld1 |
A |
T |
16: 55,052,603 (GRCm39) |
V337D |
possibly damaging |
Het |
|
Other mutations in Ahctf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00757:Ahctf1
|
APN |
1 |
179,596,696 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01714:Ahctf1
|
APN |
1 |
179,623,442 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01787:Ahctf1
|
APN |
1 |
179,580,887 (GRCm39) |
missense |
probably benign |
|
IGL01997:Ahctf1
|
APN |
1 |
179,583,027 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02035:Ahctf1
|
APN |
1 |
179,593,579 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02158:Ahctf1
|
APN |
1 |
179,607,217 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02182:Ahctf1
|
APN |
1 |
179,580,643 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02298:Ahctf1
|
APN |
1 |
179,580,044 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02325:Ahctf1
|
APN |
1 |
179,603,580 (GRCm39) |
missense |
probably benign |
0.14 |
IGL02619:Ahctf1
|
APN |
1 |
179,620,016 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02858:Ahctf1
|
APN |
1 |
179,596,599 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02893:Ahctf1
|
APN |
1 |
179,603,576 (GRCm39) |
nonsense |
probably null |
|
IGL02895:Ahctf1
|
APN |
1 |
179,621,376 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03180:Ahctf1
|
APN |
1 |
179,602,895 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03220:Ahctf1
|
APN |
1 |
179,615,767 (GRCm39) |
missense |
probably benign |
0.01 |
cerebro
|
UTSW |
1 |
179,596,979 (GRCm39) |
missense |
probably damaging |
0.99 |
R0003:Ahctf1
|
UTSW |
1 |
179,591,038 (GRCm39) |
missense |
probably benign |
0.04 |
R0024:Ahctf1
|
UTSW |
1 |
179,580,001 (GRCm39) |
missense |
probably damaging |
0.98 |
R0030:Ahctf1
|
UTSW |
1 |
179,580,001 (GRCm39) |
missense |
probably damaging |
0.98 |
R0432:Ahctf1
|
UTSW |
1 |
179,611,726 (GRCm39) |
missense |
probably damaging |
0.98 |
R0481:Ahctf1
|
UTSW |
1 |
179,587,836 (GRCm39) |
missense |
probably benign |
0.00 |
R0600:Ahctf1
|
UTSW |
1 |
179,591,033 (GRCm39) |
critical splice donor site |
probably null |
|
R0613:Ahctf1
|
UTSW |
1 |
179,596,979 (GRCm39) |
missense |
probably damaging |
0.99 |
R0814:Ahctf1
|
UTSW |
1 |
179,590,473 (GRCm39) |
missense |
probably benign |
0.26 |
R1055:Ahctf1
|
UTSW |
1 |
179,591,051 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1473:Ahctf1
|
UTSW |
1 |
179,626,844 (GRCm39) |
missense |
probably damaging |
0.99 |
R1473:Ahctf1
|
UTSW |
1 |
179,603,673 (GRCm39) |
missense |
probably benign |
0.30 |
R1689:Ahctf1
|
UTSW |
1 |
179,595,948 (GRCm39) |
missense |
probably damaging |
0.96 |
R1778:Ahctf1
|
UTSW |
1 |
179,580,580 (GRCm39) |
missense |
possibly damaging |
0.57 |
R1878:Ahctf1
|
UTSW |
1 |
179,603,074 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1925:Ahctf1
|
UTSW |
1 |
179,598,218 (GRCm39) |
missense |
probably damaging |
0.98 |
R2118:Ahctf1
|
UTSW |
1 |
179,597,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R2122:Ahctf1
|
UTSW |
1 |
179,597,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R2124:Ahctf1
|
UTSW |
1 |
179,597,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R2373:Ahctf1
|
UTSW |
1 |
179,623,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R2509:Ahctf1
|
UTSW |
1 |
179,598,258 (GRCm39) |
missense |
possibly damaging |
0.51 |
R2697:Ahctf1
|
UTSW |
1 |
179,580,097 (GRCm39) |
missense |
probably damaging |
0.99 |
R3035:Ahctf1
|
UTSW |
1 |
179,581,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R3155:Ahctf1
|
UTSW |
1 |
179,583,148 (GRCm39) |
missense |
probably damaging |
0.98 |
R3899:Ahctf1
|
UTSW |
1 |
179,605,345 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4036:Ahctf1
|
UTSW |
1 |
179,590,181 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4681:Ahctf1
|
UTSW |
1 |
179,580,361 (GRCm39) |
missense |
probably benign |
0.27 |
R4695:Ahctf1
|
UTSW |
1 |
179,580,619 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4735:Ahctf1
|
UTSW |
1 |
179,580,964 (GRCm39) |
missense |
probably benign |
0.00 |
R4857:Ahctf1
|
UTSW |
1 |
179,626,922 (GRCm39) |
unclassified |
probably benign |
|
R4898:Ahctf1
|
UTSW |
1 |
179,583,077 (GRCm39) |
missense |
probably benign |
0.02 |
R4905:Ahctf1
|
UTSW |
1 |
179,576,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R5011:Ahctf1
|
UTSW |
1 |
179,611,675 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5013:Ahctf1
|
UTSW |
1 |
179,611,675 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5053:Ahctf1
|
UTSW |
1 |
179,614,349 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5207:Ahctf1
|
UTSW |
1 |
179,621,159 (GRCm39) |
intron |
probably benign |
|
R5319:Ahctf1
|
UTSW |
1 |
179,596,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R5343:Ahctf1
|
UTSW |
1 |
179,598,199 (GRCm39) |
nonsense |
probably null |
|
R5546:Ahctf1
|
UTSW |
1 |
179,581,633 (GRCm39) |
missense |
probably benign |
0.01 |
R5718:Ahctf1
|
UTSW |
1 |
179,596,904 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5862:Ahctf1
|
UTSW |
1 |
179,615,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R5958:Ahctf1
|
UTSW |
1 |
179,574,107 (GRCm39) |
unclassified |
probably benign |
|
R6010:Ahctf1
|
UTSW |
1 |
179,623,378 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6081:Ahctf1
|
UTSW |
1 |
179,609,237 (GRCm39) |
missense |
probably benign |
0.07 |
R6093:Ahctf1
|
UTSW |
1 |
179,590,517 (GRCm39) |
missense |
probably benign |
0.01 |
R6207:Ahctf1
|
UTSW |
1 |
179,604,955 (GRCm39) |
splice site |
probably null |
|
R6268:Ahctf1
|
UTSW |
1 |
179,591,048 (GRCm39) |
missense |
probably benign |
0.08 |
R6656:Ahctf1
|
UTSW |
1 |
179,581,078 (GRCm39) |
missense |
probably benign |
0.05 |
R6668:Ahctf1
|
UTSW |
1 |
179,579,972 (GRCm39) |
missense |
probably benign |
0.04 |
R6860:Ahctf1
|
UTSW |
1 |
179,580,853 (GRCm39) |
missense |
probably benign |
0.04 |
R6998:Ahctf1
|
UTSW |
1 |
179,598,480 (GRCm39) |
nonsense |
probably null |
|
R7082:Ahctf1
|
UTSW |
1 |
179,602,898 (GRCm39) |
missense |
probably benign |
0.15 |
R7385:Ahctf1
|
UTSW |
1 |
179,580,946 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7414:Ahctf1
|
UTSW |
1 |
179,611,670 (GRCm39) |
missense |
probably benign |
0.00 |
R7663:Ahctf1
|
UTSW |
1 |
179,617,879 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7673:Ahctf1
|
UTSW |
1 |
179,590,411 (GRCm39) |
missense |
probably benign |
0.02 |
R7715:Ahctf1
|
UTSW |
1 |
179,598,413 (GRCm39) |
missense |
probably benign |
0.00 |
R7819:Ahctf1
|
UTSW |
1 |
179,595,880 (GRCm39) |
missense |
probably benign |
|
R7846:Ahctf1
|
UTSW |
1 |
179,614,638 (GRCm39) |
missense |
probably damaging |
0.99 |
R7912:Ahctf1
|
UTSW |
1 |
179,580,656 (GRCm39) |
missense |
probably benign |
0.00 |
R7942:Ahctf1
|
UTSW |
1 |
179,613,660 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8282:Ahctf1
|
UTSW |
1 |
179,605,371 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8376:Ahctf1
|
UTSW |
1 |
179,610,520 (GRCm39) |
missense |
probably damaging |
0.99 |
R8439:Ahctf1
|
UTSW |
1 |
179,590,175 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8482:Ahctf1
|
UTSW |
1 |
179,591,107 (GRCm39) |
unclassified |
probably benign |
|
R8683:Ahctf1
|
UTSW |
1 |
179,623,321 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8734:Ahctf1
|
UTSW |
1 |
179,608,430 (GRCm39) |
nonsense |
probably null |
|
R8855:Ahctf1
|
UTSW |
1 |
179,614,341 (GRCm39) |
missense |
probably damaging |
0.99 |
R8928:Ahctf1
|
UTSW |
1 |
179,596,626 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9009:Ahctf1
|
UTSW |
1 |
179,581,171 (GRCm39) |
missense |
probably benign |
0.11 |
R9106:Ahctf1
|
UTSW |
1 |
179,614,601 (GRCm39) |
missense |
probably benign |
0.04 |
R9228:Ahctf1
|
UTSW |
1 |
179,611,685 (GRCm39) |
missense |
probably benign |
0.28 |
R9408:Ahctf1
|
UTSW |
1 |
179,603,638 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9800:Ahctf1
|
UTSW |
1 |
179,581,433 (GRCm39) |
missense |
possibly damaging |
0.77 |
X0067:Ahctf1
|
UTSW |
1 |
179,605,269 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Ahctf1
|
UTSW |
1 |
179,621,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGACCTAGTCCTTGTGCCC -3'
(R):5'- TTGCCTCTTCAGACAGGACTCG -3'
Sequencing Primer
(F):5'- AAGCAGTCCGTCCCTTCG -3'
(R):5'- TTCAGACAGGACTCGATGTACCTG -3'
|
Posted On |
2018-08-29 |