Incidental Mutation 'R9009:Ahctf1'
ID |
685481 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ahctf1
|
Ensembl Gene |
ENSMUSG00000026491 |
Gene Name |
AT hook containing transcription factor 1 |
Synonyms |
Elys, 6230412P20Rik |
MMRRC Submission |
068839-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9009 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
179572459-179631245 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 179581171 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 1677
(S1677N)
|
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: S1677N
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000027768 Gene: ENSMUSG00000026491 AA Change: S1677N
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
94% (58/62) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430548M08Rik |
T |
A |
8: 120,878,279 (GRCm39) |
|
probably benign |
Het |
Ank2 |
T |
C |
3: 126,728,025 (GRCm39) |
|
probably benign |
Het |
Arid3c |
A |
T |
4: 41,729,925 (GRCm39) |
I90N |
probably benign |
Het |
Asb1 |
C |
A |
1: 91,480,205 (GRCm39) |
D301E |
unknown |
Het |
Asb1 |
T |
G |
1: 91,480,206 (GRCm39) |
*302G |
probably null |
Het |
Birc2 |
A |
T |
9: 7,833,937 (GRCm39) |
F181L |
probably benign |
Het |
Bnip1 |
T |
A |
17: 27,001,590 (GRCm39) |
|
probably benign |
Het |
Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
Cd2ap |
T |
C |
17: 43,116,135 (GRCm39) |
D575G |
possibly damaging |
Het |
Cdca7 |
T |
A |
2: 72,314,273 (GRCm39) |
H248Q |
probably damaging |
Het |
Chd2 |
T |
C |
7: 73,143,192 (GRCm39) |
D567G |
probably benign |
Het |
Chd2 |
T |
C |
7: 73,140,402 (GRCm39) |
I609V |
probably benign |
Het |
Cnmd |
T |
A |
14: 79,894,085 (GRCm39) |
T101S |
probably damaging |
Het |
Col6a4 |
T |
C |
9: 105,954,404 (GRCm39) |
T312A |
probably benign |
Het |
Cript |
C |
A |
17: 87,338,475 (GRCm39) |
T41N |
probably damaging |
Het |
Cts6 |
T |
C |
13: 61,344,261 (GRCm39) |
I264V |
probably benign |
Het |
Cyp4a32 |
C |
T |
4: 115,467,802 (GRCm39) |
T262I |
probably null |
Het |
D430041D05Rik |
T |
A |
2: 104,240,521 (GRCm39) |
|
probably benign |
Het |
Dctd |
C |
T |
8: 48,564,712 (GRCm39) |
P5S |
probably benign |
Het |
Det1 |
T |
C |
7: 78,492,984 (GRCm39) |
N340S |
probably benign |
Het |
Dnah7b |
A |
G |
1: 46,262,232 (GRCm39) |
N2032D |
probably benign |
Het |
Dscam |
T |
A |
16: 96,840,116 (GRCm39) |
T164S |
probably benign |
Het |
Emcn |
T |
C |
3: 137,124,775 (GRCm39) |
V196A |
possibly damaging |
Het |
Fbxo32 |
A |
G |
15: 58,046,358 (GRCm39) |
I284T |
possibly damaging |
Het |
Gimap3 |
C |
A |
6: 48,742,094 (GRCm39) |
D279Y |
possibly damaging |
Het |
Gm43302 |
C |
T |
5: 105,427,974 (GRCm39) |
D196N |
probably benign |
Het |
Gpc6 |
C |
A |
14: 117,424,217 (GRCm39) |
H102N |
possibly damaging |
Het |
Gpr158 |
A |
T |
2: 21,581,760 (GRCm39) |
D413V |
probably damaging |
Het |
Ifi207 |
T |
C |
1: 173,555,382 (GRCm39) |
R767G |
probably damaging |
Het |
Kcnip2 |
T |
C |
19: 45,800,634 (GRCm39) |
|
probably benign |
Het |
Kifap3 |
A |
C |
1: 163,696,291 (GRCm39) |
D640A |
probably damaging |
Het |
Lmbrd2 |
A |
T |
15: 9,157,311 (GRCm39) |
Q183L |
possibly damaging |
Het |
Malt1 |
A |
G |
18: 65,577,911 (GRCm39) |
I135V |
probably benign |
Het |
Mfhas1 |
T |
C |
8: 36,057,109 (GRCm39) |
V528A |
probably damaging |
Het |
Mllt10 |
T |
C |
2: 18,167,163 (GRCm39) |
S363P |
probably damaging |
Het |
Mrnip |
A |
G |
11: 50,073,323 (GRCm39) |
Y44C |
probably damaging |
Het |
Mstn |
C |
T |
1: 53,103,131 (GRCm39) |
Q156* |
probably null |
Het |
Mtmr7 |
T |
C |
8: 41,008,904 (GRCm39) |
D469G |
possibly damaging |
Het |
Muc6 |
A |
G |
7: 141,217,018 (GRCm39) |
S2552P |
possibly damaging |
Het |
Myo1f |
C |
A |
17: 33,823,662 (GRCm39) |
N1063K |
probably benign |
Het |
Or52k2 |
T |
A |
7: 102,253,642 (GRCm39) |
I27N |
probably benign |
Het |
Or5af1 |
A |
T |
11: 58,722,280 (GRCm39) |
Y100F |
probably benign |
Het |
Or6z5 |
G |
A |
7: 6,477,399 (GRCm39) |
V97M |
probably benign |
Het |
Orai2 |
A |
G |
5: 136,179,430 (GRCm39) |
V201A |
possibly damaging |
Het |
Pcdhga6 |
A |
T |
18: 37,841,878 (GRCm39) |
T533S |
possibly damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,881,552 (GRCm39) |
K907N |
|
Het |
Plaat5 |
G |
T |
19: 7,614,823 (GRCm39) |
M228I |
probably benign |
Het |
Ppp1r15a |
A |
T |
7: 45,174,049 (GRCm39) |
V253E |
probably benign |
Het |
Ppp1r9b |
A |
G |
11: 94,887,467 (GRCm39) |
E493G |
probably benign |
Het |
Prdm1 |
T |
C |
10: 44,322,997 (GRCm39) |
N151S |
probably benign |
Het |
Prkcd |
C |
T |
14: 30,329,297 (GRCm39) |
A163T |
probably damaging |
Het |
Prl7a2 |
T |
A |
13: 27,849,994 (GRCm39) |
E26V |
probably damaging |
Het |
Ptprm |
A |
T |
17: 66,996,354 (GRCm39) |
N1278K |
probably damaging |
Het |
Ptprz1 |
T |
A |
6: 23,001,653 (GRCm39) |
S1248T |
possibly damaging |
Het |
Scn9a |
T |
C |
2: 66,338,927 (GRCm39) |
I1186M |
probably damaging |
Het |
Sv2a |
T |
C |
3: 96,094,409 (GRCm39) |
F248S |
probably benign |
Het |
Tas2r116 |
T |
A |
6: 132,832,963 (GRCm39) |
I188K |
probably damaging |
Het |
Tcf21 |
T |
C |
10: 22,693,671 (GRCm39) |
T169A |
probably benign |
Het |
Tecrl |
C |
A |
5: 83,432,121 (GRCm39) |
C258F |
probably damaging |
Het |
Tet2 |
T |
A |
3: 133,193,360 (GRCm39) |
E358V |
possibly damaging |
Het |
Thada |
A |
T |
17: 84,759,203 (GRCm39) |
S219T |
possibly damaging |
Het |
Tpgs2 |
T |
A |
18: 25,301,777 (GRCm39) |
|
probably benign |
Het |
Ttc6 |
A |
T |
12: 57,744,219 (GRCm39) |
I1284F |
probably damaging |
Het |
Vmn1r160 |
T |
C |
7: 22,571,127 (GRCm39) |
V160A |
possibly damaging |
Het |
Vmn1r44 |
T |
C |
6: 89,870,671 (GRCm39) |
L139P |
probably 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 |
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 |
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'- CATGCTGCCTTCTTGTGAGAG -3'
(R):5'- TGCAGCACCTAATATGTTACCG -3'
Sequencing Primer
(F):5'- TGAGAGTTCTAGAAGAAACCATGTC -3'
(R):5'- GCACCTAATATGTTACCGAAAGCG -3'
|
Posted On |
2021-10-11 |