Incidental Mutation 'IGL03387:Nanog'
ID |
420910 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nanog
|
Ensembl Gene |
ENSMUSG00000012396 |
Gene Name |
Nanog homeobox |
Synonyms |
ENK, 2410002E02Rik, ecat4 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03387
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
122684448-122691592 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 122688731 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 104
(L104P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108200
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012540]
[ENSMUST00000112580]
[ENSMUST00000112581]
|
AlphaFold |
Q80Z64 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000012540
AA Change: L129P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000012540 Gene: ENSMUSG00000012396 AA Change: L129P
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
25 |
N/A |
INTRINSIC |
HOX
|
96 |
158 |
5.33e-22 |
SMART |
low complexity region
|
206 |
230 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112580
AA Change: L104P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108199 Gene: ENSMUSG00000012396 AA Change: L104P
Domain | Start | End | E-Value | Type |
HOX
|
71 |
133 |
5.33e-22 |
SMART |
low complexity region
|
181 |
205 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112581
AA Change: L104P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108200 Gene: ENSMUSG00000012396 AA Change: L104P
Domain | Start | End | E-Value | Type |
HOX
|
71 |
133 |
5.33e-22 |
SMART |
low complexity region
|
181 |
205 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The protein encoded by this gene is a DNA binding homeobox transcription factor involved in embryonic stem (ES) cell proliferation, renewal, and pluripotency. The encoded protein can block ES cell differentiation and can also autorepress its own expression in differentiating cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015] PHENOTYPE: Mice homozygous for a disruption in this gene die between E3.5 and E5.5 with abnormal embryonic and extraembryonic tissue development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy2 |
A |
C |
13: 68,878,486 (GRCm39) |
I384S |
probably damaging |
Het |
Atxn7 |
T |
C |
14: 14,087,273 (GRCm38) |
|
probably benign |
Het |
Blm |
A |
T |
7: 80,143,895 (GRCm39) |
V848D |
probably damaging |
Het |
Cul1 |
G |
T |
6: 47,478,143 (GRCm39) |
L175F |
probably damaging |
Het |
Cyp4a29 |
A |
G |
4: 115,108,368 (GRCm39) |
H364R |
possibly damaging |
Het |
Ddx60 |
A |
G |
8: 62,465,483 (GRCm39) |
D1380G |
probably damaging |
Het |
Det1 |
A |
T |
7: 78,493,372 (GRCm39) |
C211S |
possibly damaging |
Het |
Dnaaf9 |
A |
G |
2: 130,559,200 (GRCm39) |
Y822H |
probably damaging |
Het |
F5 |
A |
C |
1: 164,020,801 (GRCm39) |
Q1092P |
probably damaging |
Het |
Fam117b |
A |
C |
1: 59,992,119 (GRCm39) |
Y256S |
probably benign |
Het |
Fbxl13 |
A |
G |
5: 21,728,796 (GRCm39) |
|
probably null |
Het |
Galnt7 |
A |
G |
8: 57,979,212 (GRCm39) |
I637T |
probably benign |
Het |
H2-T24 |
T |
A |
17: 36,317,671 (GRCm39) |
K120N |
unknown |
Het |
Hes2 |
A |
G |
4: 152,244,269 (GRCm39) |
K18R |
probably damaging |
Het |
Icam5 |
A |
T |
9: 20,945,097 (GRCm39) |
Q220L |
probably benign |
Het |
Kdm8 |
G |
A |
7: 125,054,278 (GRCm39) |
A170T |
probably benign |
Het |
Krt40 |
G |
A |
11: 99,430,711 (GRCm39) |
A321V |
probably damaging |
Het |
Mapkbp1 |
T |
A |
2: 119,828,979 (GRCm39) |
V45D |
probably damaging |
Het |
Mbip |
A |
G |
12: 56,382,597 (GRCm39) |
Y290H |
probably damaging |
Het |
Mical1 |
A |
G |
10: 41,354,195 (GRCm39) |
Y48C |
probably damaging |
Het |
Mslnl |
T |
C |
17: 25,963,051 (GRCm39) |
S300P |
probably benign |
Het |
Or10ak11 |
T |
C |
4: 118,687,238 (GRCm39) |
Y132C |
probably damaging |
Het |
Or4c113 |
A |
T |
2: 88,885,457 (GRCm39) |
H104Q |
probably damaging |
Het |
Or4f60 |
T |
A |
2: 111,902,007 (GRCm39) |
Y307F |
probably benign |
Het |
Or52n2c |
A |
T |
7: 104,574,580 (GRCm39) |
N130K |
probably benign |
Het |
Oxgr1 |
C |
A |
14: 120,260,199 (GRCm39) |
E3* |
probably null |
Het |
Pam16 |
A |
T |
16: 4,434,671 (GRCm39) |
|
probably benign |
Het |
Plcb1 |
A |
T |
2: 134,655,606 (GRCm39) |
|
probably benign |
Het |
Slc25a32 |
A |
T |
15: 38,969,359 (GRCm39) |
V58E |
probably benign |
Het |
Slc2a12 |
G |
T |
10: 22,541,134 (GRCm39) |
V330F |
probably damaging |
Het |
Slit1 |
T |
C |
19: 41,591,881 (GRCm39) |
E1247G |
possibly damaging |
Het |
Supt5 |
A |
T |
7: 28,019,508 (GRCm39) |
C519S |
possibly damaging |
Het |
Szt2 |
A |
G |
4: 118,221,922 (GRCm39) |
|
probably benign |
Het |
Tas2r118 |
A |
G |
6: 23,969,180 (GRCm39) |
W294R |
possibly damaging |
Het |
Tex21 |
A |
T |
12: 76,245,694 (GRCm39) |
M534K |
probably damaging |
Het |
Tmem132c |
T |
C |
5: 127,640,784 (GRCm39) |
I985T |
probably benign |
Het |
Tmem87b |
T |
C |
2: 128,665,019 (GRCm39) |
V61A |
probably benign |
Het |
Trhr2 |
G |
A |
8: 123,085,220 (GRCm39) |
|
probably benign |
Het |
Ttc28 |
A |
G |
5: 111,381,208 (GRCm39) |
D1209G |
probably benign |
Het |
Uchl5 |
A |
G |
1: 143,677,940 (GRCm39) |
E148G |
probably benign |
Het |
Wdr62 |
T |
C |
7: 29,970,199 (GRCm39) |
I203V |
possibly damaging |
Het |
Wnk1 |
T |
C |
6: 119,931,148 (GRCm39) |
I799V |
possibly damaging |
Het |
|
Other mutations in Nanog |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00475:Nanog
|
APN |
6 |
122,688,495 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL03278:Nanog
|
APN |
6 |
122,688,704 (GRCm39) |
missense |
probably damaging |
1.00 |
R0280:Nanog
|
UTSW |
6 |
122,690,357 (GRCm39) |
missense |
probably damaging |
0.96 |
R1443:Nanog
|
UTSW |
6 |
122,688,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R2520:Nanog
|
UTSW |
6 |
122,690,418 (GRCm39) |
missense |
probably benign |
0.08 |
R3037:Nanog
|
UTSW |
6 |
122,690,227 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4486:Nanog
|
UTSW |
6 |
122,689,676 (GRCm39) |
critical splice donor site |
probably null |
|
R4770:Nanog
|
UTSW |
6 |
122,688,550 (GRCm39) |
missense |
possibly damaging |
0.63 |
R4790:Nanog
|
UTSW |
6 |
122,684,874 (GRCm39) |
missense |
probably benign |
0.00 |
R4825:Nanog
|
UTSW |
6 |
122,690,299 (GRCm39) |
missense |
probably benign |
0.09 |
R4931:Nanog
|
UTSW |
6 |
122,684,865 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6010:Nanog
|
UTSW |
6 |
122,690,255 (GRCm39) |
missense |
probably benign |
0.16 |
R6025:Nanog
|
UTSW |
6 |
122,690,350 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7661:Nanog
|
UTSW |
6 |
122,690,431 (GRCm39) |
missense |
probably damaging |
0.96 |
R8236:Nanog
|
UTSW |
6 |
122,690,131 (GRCm39) |
missense |
probably benign |
|
R8272:Nanog
|
UTSW |
6 |
122,688,736 (GRCm39) |
missense |
probably benign |
0.00 |
R8520:Nanog
|
UTSW |
6 |
122,690,475 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9500:Nanog
|
UTSW |
6 |
122,690,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R9632:Nanog
|
UTSW |
6 |
122,684,799 (GRCm39) |
missense |
probably benign |
0.00 |
R9710:Nanog
|
UTSW |
6 |
122,684,799 (GRCm39) |
missense |
probably benign |
0.00 |
X0065:Nanog
|
UTSW |
6 |
122,684,752 (GRCm39) |
missense |
probably benign |
|
Z1176:Nanog
|
UTSW |
6 |
122,690,190 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2016-08-02 |