Incidental Mutation 'R6870:Dnttip2'
| ID |
536131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnttip2
|
| Ensembl Gene |
ENSMUSG00000039756 |
| Gene Name |
deoxynucleotidyltransferase, terminal, interacting protein 2 |
| Synonyms |
4930588M11Rik |
| MMRRC Submission |
044967-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R6870 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
122068045-122078920 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 122069457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 224
(V224E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035776]
|
| AlphaFold |
Q8R2M2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035776
AA Change: V224E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045043
Gene: ENSMUSG00000039756
AA Change: V224E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
125 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
447 |
458 |
N/A |
INTRINSIC |
|
coiled coil region
|
513 |
541 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
565 |
N/A |
INTRINSIC |
|
Pfam:Fcf2
|
639 |
733 |
3.4e-41 |
PFAM |
|
low complexity region
|
748 |
756 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0897 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
72% (39/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to be involved in chromatin remodeling and gene transcription. The encoded nuclear protein binds to and enhances the transcriptional activity of the estrogen receptor alpha, and also interacts with terminal deoxynucleotidyltransferase. The expression profile of this gene is a potential biomarker for chronic obstructive pulmonary disease. [provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700088E04Rik |
T |
C |
15: 79,020,608 (GRCm39) |
Y62C |
probably benign |
Het |
| A1bg |
T |
C |
15: 60,791,564 (GRCm39) |
T291A |
probably damaging |
Het |
| Abcb11 |
A |
G |
2: 69,115,642 (GRCm39) |
I574T |
possibly damaging |
Het |
| Abcb5 |
T |
A |
12: 118,929,000 (GRCm39) |
Y17F |
possibly damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,522,478 (GRCm39) |
L516* |
probably null |
Het |
| Arhgap21 |
A |
G |
2: 20,885,321 (GRCm39) |
S619P |
probably damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,347,261 (GRCm39) |
V65A |
probably benign |
Het |
| Calm3 |
T |
A |
7: 16,653,568 (GRCm39) |
Q9L |
probably benign |
Het |
| Cd300c2 |
C |
T |
11: 114,891,503 (GRCm39) |
D124N |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,706,390 (GRCm39) |
T958A |
probably benign |
Het |
| Cemip2 |
T |
C |
19: 21,809,487 (GRCm39) |
S956P |
possibly damaging |
Het |
| Cfap69 |
T |
C |
5: 5,671,958 (GRCm39) |
T317A |
probably benign |
Het |
| Cluh |
T |
A |
11: 74,556,210 (GRCm39) |
I887K |
probably damaging |
Het |
| Dag1 |
A |
T |
9: 108,086,457 (GRCm39) |
V228E |
probably damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,924,248 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
T |
A |
14: 30,993,018 (GRCm39) |
K2959* |
probably null |
Het |
| Drosha |
C |
T |
15: 12,907,479 (GRCm39) |
P1071L |
probably benign |
Het |
| E030025P04Rik |
T |
A |
11: 109,030,993 (GRCm39) |
H84L |
unknown |
Het |
| Elac2 |
A |
T |
11: 64,890,589 (GRCm39) |
S698C |
probably null |
Het |
| Elf2 |
A |
T |
3: 51,201,586 (GRCm39) |
*88R |
probably null |
Het |
| Fastkd1 |
T |
A |
2: 69,538,958 (GRCm39) |
I143L |
probably benign |
Het |
| Fbxw10 |
C |
T |
11: 62,746,193 (GRCm39) |
R366C |
probably damaging |
Het |
| Frg2f1 |
T |
C |
4: 119,388,329 (GRCm39) |
M57V |
probably benign |
Het |
| Gbp4 |
T |
C |
5: 105,273,444 (GRCm39) |
S129G |
probably damaging |
Het |
| Gnat2 |
A |
C |
3: 108,002,947 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
C |
A |
16: 36,738,565 (GRCm39) |
F2301L |
probably damaging |
Het |
| Il18bp |
T |
C |
7: 101,666,518 (GRCm39) |
T2A |
possibly damaging |
Het |
| Kpna2 |
T |
C |
11: 106,883,520 (GRCm39) |
|
probably null |
Het |
| Lrrfip2 |
A |
T |
9: 111,045,187 (GRCm39) |
|
probably benign |
Het |
| Map4k1 |
T |
G |
7: 28,701,096 (GRCm39) |
|
probably null |
Het |
| Mcm3ap |
T |
C |
10: 76,306,049 (GRCm39) |
V54A |
probably benign |
Het |
| Nup133 |
A |
G |
8: 124,626,246 (GRCm39) |
I1112T |
probably benign |
Het |
| Or8b1 |
A |
C |
9: 38,399,382 (GRCm39) |
D19A |
probably benign |
Het |
| Pcdhac1 |
T |
A |
18: 37,225,140 (GRCm39) |
V651D |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,186,356 (GRCm39) |
T571A |
possibly damaging |
Het |
| Phc3 |
A |
G |
3: 30,990,910 (GRCm39) |
S403P |
probably damaging |
Het |
| Prl7b1 |
T |
C |
13: 27,788,516 (GRCm39) |
E113G |
probably damaging |
Het |
| Psmd2 |
T |
G |
16: 20,480,593 (GRCm39) |
M744R |
probably benign |
Het |
| Qrich2 |
T |
C |
11: 116,346,156 (GRCm39) |
D1556G |
probably damaging |
Het |
| Septin1 |
C |
T |
7: 126,816,876 (GRCm39) |
V46M |
probably benign |
Het |
| Shank2 |
C |
A |
7: 143,606,197 (GRCm39) |
Q127K |
probably damaging |
Het |
| Siah1a |
A |
G |
8: 87,451,653 (GRCm39) |
V277A |
possibly damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,733,846 (GRCm38) |
D85E |
probably damaging |
Het |
| Slc5a12 |
A |
T |
2: 110,472,155 (GRCm39) |
I526F |
probably damaging |
Het |
| Svil |
T |
C |
18: 5,063,231 (GRCm39) |
V834A |
possibly damaging |
Het |
| Sycp1 |
T |
A |
3: 102,842,919 (GRCm39) |
S17C |
probably damaging |
Het |
| Tssk6 |
G |
A |
8: 70,355,673 (GRCm39) |
R239Q |
probably benign |
Het |
| Txnrd1 |
A |
G |
10: 82,709,042 (GRCm39) |
D80G |
probably benign |
Het |
| Tyk2 |
A |
G |
9: 21,036,250 (GRCm39) |
F79S |
probably damaging |
Het |
| Tyrp1 |
T |
C |
4: 80,769,014 (GRCm39) |
S503P |
probably benign |
Het |
| Upf1 |
A |
T |
8: 70,794,211 (GRCm39) |
C232S |
probably benign |
Het |
| Zeb2 |
G |
A |
2: 44,878,922 (GRCm39) |
T1080I |
probably damaging |
Het |
|
| Other mutations in Dnttip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00535:Dnttip2
|
APN |
3 |
122,078,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00921:Dnttip2
|
APN |
3 |
122,068,939 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01120:Dnttip2
|
APN |
3 |
122,072,386 (GRCm39) |
splice site |
probably benign |
|
|
IGL01341:Dnttip2
|
APN |
3 |
122,070,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01636:Dnttip2
|
APN |
3 |
122,076,123 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01988:Dnttip2
|
APN |
3 |
122,069,944 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02096:Dnttip2
|
APN |
3 |
122,078,062 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02216:Dnttip2
|
APN |
3 |
122,069,910 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03234:Dnttip2
|
APN |
3 |
122,076,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Abyss
|
UTSW |
3 |
122,069,870 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Chasm
|
UTSW |
3 |
122,069,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0089:Dnttip2
|
UTSW |
3 |
122,069,111 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0102:Dnttip2
|
UTSW |
3 |
122,069,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0102:Dnttip2
|
UTSW |
3 |
122,069,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0195:Dnttip2
|
UTSW |
3 |
122,069,810 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1103:Dnttip2
|
UTSW |
3 |
122,070,071 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1733:Dnttip2
|
UTSW |
3 |
122,070,397 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1759:Dnttip2
|
UTSW |
3 |
122,069,798 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2019:Dnttip2
|
UTSW |
3 |
122,074,393 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2022:Dnttip2
|
UTSW |
3 |
122,069,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2415:Dnttip2
|
UTSW |
3 |
122,070,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3913:Dnttip2
|
UTSW |
3 |
122,069,040 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4194:Dnttip2
|
UTSW |
3 |
122,074,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4367:Dnttip2
|
UTSW |
3 |
122,070,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4871:Dnttip2
|
UTSW |
3 |
122,078,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4888:Dnttip2
|
UTSW |
3 |
122,070,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5082:Dnttip2
|
UTSW |
3 |
122,069,590 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5436:Dnttip2
|
UTSW |
3 |
122,072,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5483:Dnttip2
|
UTSW |
3 |
122,070,446 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5933:Dnttip2
|
UTSW |
3 |
122,069,217 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5966:Dnttip2
|
UTSW |
3 |
122,078,817 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6171:Dnttip2
|
UTSW |
3 |
122,072,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6251:Dnttip2
|
UTSW |
3 |
122,068,905 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6286:Dnttip2
|
UTSW |
3 |
122,078,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6512:Dnttip2
|
UTSW |
3 |
122,069,172 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6519:Dnttip2
|
UTSW |
3 |
122,069,120 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6670:Dnttip2
|
UTSW |
3 |
122,069,870 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6833:Dnttip2
|
UTSW |
3 |
122,070,452 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6969:Dnttip2
|
UTSW |
3 |
122,076,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7038:Dnttip2
|
UTSW |
3 |
122,070,181 (GRCm39) |
nonsense |
probably null |
|
|
R7233:Dnttip2
|
UTSW |
3 |
122,070,039 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7423:Dnttip2
|
UTSW |
3 |
122,069,175 (GRCm39) |
missense |
probably benign |
|
|
R7591:Dnttip2
|
UTSW |
3 |
122,070,117 (GRCm39) |
nonsense |
probably null |
|
|
R7765:Dnttip2
|
UTSW |
3 |
122,069,594 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7842:Dnttip2
|
UTSW |
3 |
122,069,990 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7899:Dnttip2
|
UTSW |
3 |
122,076,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8408:Dnttip2
|
UTSW |
3 |
122,070,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8753:Dnttip2
|
UTSW |
3 |
122,074,398 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9165:Dnttip2
|
UTSW |
3 |
122,070,355 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Dnttip2
|
UTSW |
3 |
122,070,305 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGGGAACTGTATCTGATGC -3'
(R):5'- TTGAGGTCCTCTTCATCCAGAC -3'
Sequencing Primer
(F):5'- AACTGTATCTGATGCTGAGTTGTCC -3'
(R):5'- CTTCTGTAAGAGACACAACATTGGC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation