Incidental Mutation 'R6268:Ahctf1'
ID |
507130 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ahctf1
|
Ensembl Gene |
ENSMUSG00000026491 |
Gene Name |
AT hook containing transcription factor 1 |
Synonyms |
Elys, 6230412P20Rik |
MMRRC Submission |
044439-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6268 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
179572459-179631245 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 179591048 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 1244
(H1244R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027768
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027768]
[ENSMUST00000127250]
[ENSMUST00000145968]
|
AlphaFold |
Q8CJF7 |
PDB Structure |
Nucleoporin ELYS (aa1-494), Mus musculus [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000027768
AA Change: H1244R
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000027768 Gene: ENSMUSG00000026491 AA Change: H1244R
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: ENSMUST00000127250
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145968
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
99% (68/69) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
A |
G |
2: 19,545,219 (GRCm39) |
I78T |
probably benign |
Het |
Afg3l1 |
A |
T |
8: 124,219,665 (GRCm39) |
I398F |
probably damaging |
Het |
Ank1 |
A |
T |
8: 23,599,687 (GRCm39) |
K797N |
probably damaging |
Het |
Anxa6 |
G |
T |
11: 54,877,903 (GRCm39) |
|
probably null |
Het |
Aoc1l1 |
T |
A |
6: 48,954,616 (GRCm39) |
Y585N |
probably benign |
Het |
Ap1b1 |
T |
A |
11: 4,969,493 (GRCm39) |
V310E |
probably damaging |
Het |
C2cd2l |
T |
C |
9: 44,228,963 (GRCm39) |
I123V |
probably damaging |
Het |
Cars2 |
TCCCC |
TCCC |
8: 11,579,599 (GRCm39) |
|
probably null |
Het |
Cfap54 |
T |
A |
10: 92,874,771 (GRCm39) |
I542F |
probably damaging |
Het |
Cfap57 |
G |
T |
4: 118,426,648 (GRCm39) |
Y1100* |
probably null |
Het |
Coq9 |
A |
G |
8: 95,576,862 (GRCm39) |
E158G |
probably benign |
Het |
Cox15 |
A |
T |
19: 43,728,365 (GRCm39) |
W303R |
possibly damaging |
Het |
Cpa5 |
A |
G |
6: 30,615,172 (GRCm39) |
Y103C |
probably damaging |
Het |
Crygn |
A |
T |
5: 24,961,189 (GRCm39) |
V39E |
probably damaging |
Het |
Csf1 |
G |
T |
3: 107,654,473 (GRCm39) |
S132R |
possibly damaging |
Het |
Dapk1 |
G |
A |
13: 60,909,580 (GRCm39) |
V1398M |
possibly damaging |
Het |
Degs2 |
C |
A |
12: 108,658,839 (GRCm39) |
V47L |
probably damaging |
Het |
Dock5 |
C |
A |
14: 68,027,724 (GRCm39) |
E1057* |
probably null |
Het |
Dsg1b |
C |
A |
18: 20,521,220 (GRCm39) |
Q26K |
probably benign |
Het |
Elp1 |
T |
C |
4: 56,762,305 (GRCm39) |
Y1098C |
probably damaging |
Het |
Fam181a |
T |
C |
12: 103,282,803 (GRCm39) |
V236A |
possibly damaging |
Het |
Fam78b |
C |
A |
1: 166,906,122 (GRCm39) |
P94T |
probably damaging |
Het |
Fbxw25 |
T |
G |
9: 109,483,718 (GRCm39) |
T165P |
probably damaging |
Het |
Flg |
C |
A |
3: 93,195,482 (GRCm39) |
|
probably benign |
Het |
Frrs1 |
G |
T |
3: 116,696,748 (GRCm39) |
V573F |
probably damaging |
Het |
Gm7298 |
A |
G |
6: 121,756,032 (GRCm39) |
T964A |
possibly damaging |
Het |
Hoxd9 |
G |
T |
2: 74,528,433 (GRCm39) |
V12L |
probably damaging |
Het |
Kcnt1 |
A |
G |
2: 25,793,609 (GRCm39) |
|
probably null |
Het |
Klhl3 |
G |
T |
13: 58,161,656 (GRCm39) |
R480S |
probably damaging |
Het |
Klhl36 |
A |
G |
8: 120,597,406 (GRCm39) |
D369G |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,657,794 (GRCm39) |
N303K |
probably damaging |
Het |
Lhcgr |
T |
C |
17: 89,050,132 (GRCm39) |
T465A |
probably damaging |
Het |
Llgl1 |
T |
C |
11: 60,602,989 (GRCm39) |
V888A |
probably benign |
Het |
Lrp1b |
T |
A |
2: 40,711,729 (GRCm39) |
T3164S |
probably benign |
Het |
Mmp3 |
T |
G |
9: 7,447,622 (GRCm39) |
D202E |
possibly damaging |
Het |
Mocs1 |
C |
A |
17: 49,742,183 (GRCm39) |
T104K |
probably damaging |
Het |
Mrpl42 |
A |
T |
10: 95,332,569 (GRCm39) |
|
probably null |
Het |
Mtch2 |
T |
C |
2: 90,693,992 (GRCm39) |
C279R |
probably benign |
Het |
Muc4 |
A |
T |
16: 32,589,141 (GRCm39) |
D2836V |
probably damaging |
Het |
Myh7 |
T |
C |
14: 55,226,741 (GRCm39) |
E370G |
probably benign |
Het |
Naa11 |
A |
G |
5: 97,540,069 (GRCm39) |
Y30H |
probably damaging |
Het |
Ntng1 |
T |
C |
3: 109,842,351 (GRCm39) |
T141A |
probably damaging |
Het |
Or5h26 |
A |
C |
16: 58,987,656 (GRCm39) |
|
probably null |
Het |
Or8c11 |
T |
C |
9: 38,289,384 (GRCm39) |
I69T |
probably benign |
Het |
Or9i14 |
A |
T |
19: 13,792,671 (GRCm39) |
Y94* |
probably null |
Het |
Pcdha12 |
G |
A |
18: 37,155,477 (GRCm39) |
C732Y |
possibly damaging |
Het |
Plekhm2 |
G |
A |
4: 141,359,652 (GRCm39) |
Q392* |
probably null |
Het |
Prr22 |
G |
A |
17: 57,078,587 (GRCm39) |
V247M |
probably damaging |
Het |
Rapgef6 |
T |
A |
11: 54,540,073 (GRCm39) |
L716Q |
probably damaging |
Het |
Rasgrp4 |
G |
A |
7: 28,842,493 (GRCm39) |
V246I |
probably damaging |
Het |
Rhbdd2 |
C |
T |
5: 135,672,114 (GRCm39) |
T323I |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
Scgb2b20 |
A |
T |
7: 33,063,973 (GRCm39) |
I99K |
possibly damaging |
Het |
Scyl3 |
C |
T |
1: 163,773,786 (GRCm39) |
R324* |
probably null |
Het |
Slc23a1 |
T |
C |
18: 35,752,624 (GRCm39) |
Y551C |
probably damaging |
Het |
Slc5a5 |
A |
T |
8: 71,341,264 (GRCm39) |
S358R |
probably damaging |
Het |
Sorcs3 |
T |
A |
19: 48,778,605 (GRCm39) |
N1007K |
probably damaging |
Het |
Stxbp4 |
T |
A |
11: 90,431,027 (GRCm39) |
K428* |
probably null |
Het |
Tmem63c |
T |
A |
12: 87,128,727 (GRCm39) |
I584N |
probably damaging |
Het |
Traf3ip3 |
C |
T |
1: 192,880,344 (GRCm39) |
|
probably benign |
Het |
Trgv2 |
G |
A |
13: 19,521,001 (GRCm39) |
T31I |
probably benign |
Het |
Ttll3 |
C |
T |
6: 113,369,524 (GRCm39) |
R23C |
probably benign |
Het |
Ugt2a3 |
A |
C |
5: 87,477,472 (GRCm39) |
L309R |
probably damaging |
Het |
Urb1 |
A |
G |
16: 90,550,807 (GRCm39) |
M2015T |
probably benign |
Het |
Vmn2r14 |
A |
C |
5: 109,369,283 (GRCm39) |
S97A |
possibly damaging |
Het |
Vps13c |
C |
A |
9: 67,858,731 (GRCm39) |
T2727K |
probably benign |
Het |
Xrn1 |
T |
A |
9: 95,846,067 (GRCm39) |
I40K |
probably damaging |
Het |
Zc3h11a |
A |
G |
1: 133,552,295 (GRCm39) |
V604A |
probably benign |
Het |
Zfp410 |
G |
A |
12: 84,378,612 (GRCm39) |
R259H |
probably benign |
Het |
Zfp748 |
A |
G |
13: 67,690,705 (GRCm39) |
V185A |
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 |
|
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 |
R6788:Ahctf1
|
UTSW |
1 |
179,580,199 (GRCm39) |
missense |
probably benign |
0.00 |
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'- AATGGCACTCCACAGTCTTTC -3'
(R):5'- AGCCACGTCTTCTGGATTTG -3'
Sequencing Primer
(F):5'- GCACTCCACAGTCTTTCATTAAAAAC -3'
(R):5'- CACGTCTTCTGGATTTGCCGAG -3'
|
Posted On |
2018-03-15 |