Incidental Mutation 'IGL03114:Gtf2ird2'
ID |
419330 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gtf2ird2
|
Ensembl Gene |
ENSMUSG00000015942 |
Gene Name |
GTF2I repeat domain containing 2 |
Synonyms |
1700012P16Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
IGL03114
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
134211629-134246988 bp(+) (GRCm39) |
Type of Mutation |
splice site (42 bp from exon) |
DNA Base Change (assembly) |
A to G
at 134245752 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122822
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016086]
[ENSMUST00000016094]
[ENSMUST00000111275]
[ENSMUST00000123941]
[ENSMUST00000144086]
[ENSMUST00000152587]
[ENSMUST00000146354]
|
AlphaFold |
Q99NI3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000016086
AA Change: D670G
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000016086 Gene: ENSMUSG00000015942 AA Change: D670G
Domain | Start | End | E-Value | Type |
Pfam:GTF2I
|
104 |
178 |
6.1e-31 |
PFAM |
Pfam:GTF2I
|
328 |
402 |
1.6e-25 |
PFAM |
Blast:Tryp_SPc
|
436 |
491 |
4e-10 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000016094
|
SMART Domains |
Protein: ENSMUSP00000016094 Gene: ENSMUSG00000015950
Domain | Start | End | E-Value | Type |
PX
|
4 |
121 |
2.14e-25 |
SMART |
SH3
|
159 |
214 |
2.17e-17 |
SMART |
SH3
|
229 |
284 |
1.02e-13 |
SMART |
Pfam:p47_phox_C
|
332 |
403 |
1.3e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111275
|
SMART Domains |
Protein: ENSMUSP00000106906 Gene: ENSMUSG00000015950
Domain | Start | End | E-Value | Type |
PX
|
4 |
121 |
2.14e-25 |
SMART |
SH3
|
159 |
214 |
2.17e-17 |
SMART |
SH3
|
229 |
284 |
1.02e-13 |
SMART |
Pfam:p47_phox_C
|
332 |
390 |
5.8e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123941
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128842
|
Predicted Effect |
probably null
Transcript: ENSMUST00000135588
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144086
|
SMART Domains |
Protein: ENSMUSP00000138547 Gene: ENSMUSG00000015950
Domain | Start | End | E-Value | Type |
PX
|
4 |
121 |
2.14e-25 |
SMART |
SH3
|
159 |
214 |
2.17e-17 |
SMART |
SH3
|
229 |
284 |
1.02e-13 |
SMART |
low complexity region
|
336 |
344 |
N/A |
INTRINSIC |
low complexity region
|
349 |
367 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182626
|
Predicted Effect |
probably null
Transcript: ENSMUST00000152587
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146354
|
SMART Domains |
Protein: ENSMUSP00000138121 Gene: ENSMUSG00000015950
Domain | Start | End | E-Value | Type |
PX
|
4 |
121 |
2.14e-25 |
SMART |
SH3
|
159 |
214 |
2.17e-17 |
SMART |
SH3
|
229 |
284 |
1.02e-13 |
SMART |
Pfam:p47_phox_C
|
332 |
390 |
5.8e-26 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
A |
T |
3: 59,651,144 (GRCm39) |
I89F |
possibly damaging |
Het |
Abca13 |
T |
A |
11: 9,478,999 (GRCm39) |
H4282Q |
probably benign |
Het |
Acta2 |
A |
G |
19: 34,222,310 (GRCm39) |
|
probably null |
Het |
Arl10 |
A |
G |
13: 54,723,579 (GRCm39) |
|
probably benign |
Het |
Avpr1a |
A |
G |
10: 122,285,623 (GRCm39) |
Y305C |
probably damaging |
Het |
Bmpr2 |
T |
A |
1: 59,906,603 (GRCm39) |
N565K |
probably damaging |
Het |
Boc |
A |
T |
16: 44,307,115 (GRCm39) |
S1035R |
probably benign |
Het |
Brd10 |
A |
T |
19: 29,694,532 (GRCm39) |
S1654T |
probably benign |
Het |
Ccdc7a |
T |
C |
8: 129,753,170 (GRCm39) |
N187S |
possibly damaging |
Het |
Cntn5 |
C |
T |
9: 9,748,457 (GRCm39) |
E680K |
probably damaging |
Het |
Copa |
T |
A |
1: 171,946,835 (GRCm39) |
Y1014* |
probably null |
Het |
Csmd3 |
A |
G |
15: 47,683,847 (GRCm39) |
S1662P |
probably damaging |
Het |
Cyp2e1 |
T |
C |
7: 140,353,042 (GRCm39) |
F360L |
possibly damaging |
Het |
Efnb3 |
A |
T |
11: 69,447,628 (GRCm39) |
|
probably benign |
Het |
Egf |
A |
T |
3: 129,530,529 (GRCm39) |
L211Q |
probably damaging |
Het |
Eno1 |
G |
A |
4: 150,325,583 (GRCm39) |
R56H |
probably benign |
Het |
Fyb2 |
A |
G |
4: 104,852,975 (GRCm39) |
T552A |
probably damaging |
Het |
Git2 |
G |
A |
5: 114,871,918 (GRCm39) |
|
probably benign |
Het |
Hyal4 |
A |
T |
6: 24,755,964 (GRCm39) |
I61L |
probably benign |
Het |
Kat14 |
T |
C |
2: 144,217,885 (GRCm39) |
|
probably null |
Het |
Kif13b |
T |
C |
14: 65,025,897 (GRCm39) |
V1418A |
probably benign |
Het |
Lcn12 |
T |
C |
2: 25,383,274 (GRCm39) |
K35E |
probably benign |
Het |
Lyrm7 |
G |
T |
11: 54,741,198 (GRCm39) |
N45K |
possibly damaging |
Het |
Mical2 |
G |
T |
7: 111,996,764 (GRCm39) |
G559V |
probably damaging |
Het |
Mtrr |
A |
T |
13: 68,712,441 (GRCm39) |
C648* |
probably null |
Het |
Muc5b |
C |
A |
7: 141,412,556 (GRCm39) |
S1834* |
probably null |
Het |
Mup16 |
G |
A |
4: 61,436,250 (GRCm39) |
T101M |
probably benign |
Het |
Myof |
A |
T |
19: 37,892,309 (GRCm39) |
L1148Q |
probably damaging |
Het |
Nags |
A |
T |
11: 102,039,814 (GRCm39) |
I501F |
probably damaging |
Het |
Nbeal1 |
A |
T |
1: 60,317,886 (GRCm39) |
Y672F |
probably damaging |
Het |
Ncapg2 |
A |
G |
12: 116,415,993 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
G |
11: 58,891,365 (GRCm39) |
S7056P |
unknown |
Het |
Or52s1 |
T |
C |
7: 102,861,928 (GRCm39) |
I287T |
probably damaging |
Het |
Pde2a |
C |
A |
7: 101,157,890 (GRCm39) |
|
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,163,343 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
C |
A |
1: 20,268,395 (GRCm39) |
D3328Y |
probably damaging |
Het |
Plxdc2 |
T |
C |
2: 16,654,935 (GRCm39) |
V178A |
probably damaging |
Het |
Prdx3 |
T |
C |
19: 60,861,556 (GRCm39) |
|
probably benign |
Het |
Prkce |
T |
A |
17: 86,961,983 (GRCm39) |
D694E |
probably damaging |
Het |
Prss1l |
T |
A |
6: 41,374,012 (GRCm39) |
C205S |
probably damaging |
Het |
Ptdss1 |
T |
A |
13: 67,142,058 (GRCm39) |
Y405* |
probably null |
Het |
Rad54l |
A |
T |
4: 115,955,729 (GRCm39) |
W608R |
probably damaging |
Het |
Rassf6 |
G |
T |
5: 90,756,649 (GRCm39) |
|
probably benign |
Het |
Sema5a |
A |
T |
15: 32,673,573 (GRCm39) |
I804F |
probably damaging |
Het |
Slc15a2 |
A |
T |
16: 36,572,267 (GRCm39) |
I668N |
probably damaging |
Het |
Thsd7b |
A |
G |
1: 130,116,288 (GRCm39) |
E1347G |
probably benign |
Het |
Tmco3 |
T |
C |
8: 13,348,205 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,551,996 (GRCm39) |
M31214V |
probably null |
Het |
Uck1 |
G |
A |
2: 32,148,334 (GRCm39) |
R161C |
probably benign |
Het |
Ugt2b5 |
T |
C |
5: 87,276,209 (GRCm39) |
Y355C |
probably damaging |
Het |
Usp48 |
C |
A |
4: 137,383,436 (GRCm39) |
T1031K |
probably damaging |
Het |
Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
Vmn1r202 |
T |
A |
13: 22,685,500 (GRCm39) |
|
probably benign |
Het |
Vmn2r90 |
T |
C |
17: 17,953,771 (GRCm39) |
I645T |
probably damaging |
Het |
Vps18 |
T |
C |
2: 119,124,132 (GRCm39) |
V353A |
possibly damaging |
Het |
Vwf |
C |
T |
6: 125,576,326 (GRCm39) |
Q469* |
probably null |
Het |
|
Other mutations in Gtf2ird2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01143:Gtf2ird2
|
APN |
5 |
134,225,394 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01295:Gtf2ird2
|
APN |
5 |
134,221,603 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01603:Gtf2ird2
|
APN |
5 |
134,231,129 (GRCm39) |
splice site |
probably benign |
|
IGL01824:Gtf2ird2
|
APN |
5 |
134,226,123 (GRCm39) |
splice site |
probably benign |
|
IGL02469:Gtf2ird2
|
APN |
5 |
134,220,088 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02525:Gtf2ird2
|
APN |
5 |
134,245,319 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02567:Gtf2ird2
|
APN |
5 |
134,241,890 (GRCm39) |
unclassified |
probably benign |
|
IGL02750:Gtf2ird2
|
APN |
5 |
134,245,731 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02992:Gtf2ird2
|
APN |
5 |
134,246,456 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL03000:Gtf2ird2
|
APN |
5 |
134,223,745 (GRCm39) |
missense |
probably benign |
0.45 |
IGL03180:Gtf2ird2
|
APN |
5 |
134,220,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R0077:Gtf2ird2
|
UTSW |
5 |
134,242,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R0100:Gtf2ird2
|
UTSW |
5 |
134,245,857 (GRCm39) |
missense |
probably damaging |
0.97 |
R0100:Gtf2ird2
|
UTSW |
5 |
134,245,857 (GRCm39) |
missense |
probably damaging |
0.97 |
R0344:Gtf2ird2
|
UTSW |
5 |
134,220,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R0568:Gtf2ird2
|
UTSW |
5 |
134,240,083 (GRCm39) |
nonsense |
probably null |
|
R0570:Gtf2ird2
|
UTSW |
5 |
134,237,785 (GRCm39) |
critical splice donor site |
probably null |
|
R0730:Gtf2ird2
|
UTSW |
5 |
134,221,597 (GRCm39) |
nonsense |
probably null |
|
R0826:Gtf2ird2
|
UTSW |
5 |
134,245,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R1707:Gtf2ird2
|
UTSW |
5 |
134,245,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R1710:Gtf2ird2
|
UTSW |
5 |
134,240,081 (GRCm39) |
missense |
probably benign |
0.26 |
R2064:Gtf2ird2
|
UTSW |
5 |
134,245,340 (GRCm39) |
nonsense |
probably null |
|
R2284:Gtf2ird2
|
UTSW |
5 |
134,246,025 (GRCm39) |
missense |
probably benign |
0.05 |
R2375:Gtf2ird2
|
UTSW |
5 |
134,245,977 (GRCm39) |
missense |
probably benign |
0.20 |
R3104:Gtf2ird2
|
UTSW |
5 |
134,237,756 (GRCm39) |
missense |
probably benign |
0.42 |
R4436:Gtf2ird2
|
UTSW |
5 |
134,223,808 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4647:Gtf2ird2
|
UTSW |
5 |
134,245,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R4708:Gtf2ird2
|
UTSW |
5 |
134,245,140 (GRCm39) |
missense |
probably damaging |
0.99 |
R4775:Gtf2ird2
|
UTSW |
5 |
134,242,970 (GRCm39) |
missense |
probably benign |
0.01 |
R4999:Gtf2ird2
|
UTSW |
5 |
134,246,306 (GRCm39) |
missense |
probably damaging |
0.97 |
R5011:Gtf2ird2
|
UTSW |
5 |
134,245,824 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5036:Gtf2ird2
|
UTSW |
5 |
134,246,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R5261:Gtf2ird2
|
UTSW |
5 |
134,245,061 (GRCm39) |
missense |
probably benign |
0.00 |
R5379:Gtf2ird2
|
UTSW |
5 |
134,246,310 (GRCm39) |
missense |
probably benign |
|
R5921:Gtf2ird2
|
UTSW |
5 |
134,246,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R6180:Gtf2ird2
|
UTSW |
5 |
134,245,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R6483:Gtf2ird2
|
UTSW |
5 |
134,240,066 (GRCm39) |
missense |
probably benign |
0.00 |
R7355:Gtf2ird2
|
UTSW |
5 |
134,245,491 (GRCm39) |
missense |
probably benign |
0.24 |
R7475:Gtf2ird2
|
UTSW |
5 |
134,230,267 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7566:Gtf2ird2
|
UTSW |
5 |
134,242,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R8021:Gtf2ird2
|
UTSW |
5 |
134,232,175 (GRCm39) |
missense |
probably benign |
|
R8701:Gtf2ird2
|
UTSW |
5 |
134,245,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R8756:Gtf2ird2
|
UTSW |
5 |
134,226,090 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8898:Gtf2ird2
|
UTSW |
5 |
134,226,106 (GRCm39) |
missense |
probably benign |
|
R8932:Gtf2ird2
|
UTSW |
5 |
134,237,739 (GRCm39) |
missense |
probably benign |
0.00 |
R8946:Gtf2ird2
|
UTSW |
5 |
134,245,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R8955:Gtf2ird2
|
UTSW |
5 |
134,245,596 (GRCm39) |
missense |
probably damaging |
0.98 |
R9065:Gtf2ird2
|
UTSW |
5 |
134,225,407 (GRCm39) |
missense |
probably damaging |
0.99 |
R9288:Gtf2ird2
|
UTSW |
5 |
134,221,571 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9566:Gtf2ird2
|
UTSW |
5 |
134,246,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |