Incidental Mutation 'R3620:1700010I14Rik'
ID |
268618 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1700010I14Rik
|
Ensembl Gene |
ENSMUSG00000023873 |
Gene Name |
RIKEN cDNA 1700010I14 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3620 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
9207152-9227151 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 9226864 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 473
(M473T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024650
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024650]
[ENSMUST00000151609]
|
AlphaFold |
Q7TPG0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024650
AA Change: M473T
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000024650 Gene: ENSMUSG00000023873 AA Change: M473T
Domain | Start | End | E-Value | Type |
coiled coil region
|
135 |
165 |
N/A |
INTRINSIC |
Pfam:TSNAXIP1_N
|
239 |
349 |
6.1e-36 |
PFAM |
low complexity region
|
351 |
364 |
N/A |
INTRINSIC |
low complexity region
|
372 |
385 |
N/A |
INTRINSIC |
coiled coil region
|
421 |
466 |
N/A |
INTRINSIC |
low complexity region
|
501 |
519 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136954
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151609
|
SMART Domains |
Protein: ENSMUSP00000118841 Gene: ENSMUSG00000023873
Domain | Start | End | E-Value | Type |
coiled coil region
|
135 |
165 |
N/A |
INTRINSIC |
coiled coil region
|
321 |
370 |
N/A |
INTRINSIC |
low complexity region
|
372 |
385 |
N/A |
INTRINSIC |
coiled coil region
|
421 |
466 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asxl1 |
C |
A |
2: 153,199,075 (GRCm39) |
R76S |
probably damaging |
Het |
Bhlhe41 |
C |
A |
6: 145,808,733 (GRCm39) |
G360C |
possibly damaging |
Het |
Ccdc88a |
T |
C |
11: 29,380,227 (GRCm39) |
I201T |
probably benign |
Het |
Ccng1 |
T |
C |
11: 40,642,992 (GRCm39) |
T152A |
probably benign |
Het |
Cep192 |
T |
C |
18: 67,962,928 (GRCm39) |
V648A |
probably benign |
Het |
Cldn16 |
T |
A |
16: 26,296,302 (GRCm39) |
F93I |
possibly damaging |
Het |
Csmd1 |
T |
C |
8: 16,042,684 (GRCm39) |
S2350G |
probably benign |
Het |
Enpp6 |
T |
C |
8: 47,518,540 (GRCm39) |
W223R |
probably benign |
Het |
Fah |
T |
C |
7: 84,238,159 (GRCm39) |
|
probably null |
Het |
Fat2 |
A |
T |
11: 55,147,521 (GRCm39) |
V3907D |
probably damaging |
Het |
Fsip2 |
C |
A |
2: 82,810,602 (GRCm39) |
T2307K |
probably benign |
Het |
Gcg |
T |
C |
2: 62,307,279 (GRCm39) |
E94G |
probably damaging |
Het |
Gramd1b |
C |
A |
9: 40,366,842 (GRCm39) |
R42L |
probably benign |
Het |
H2bc9 |
C |
A |
13: 23,727,324 (GRCm39) |
V67L |
probably benign |
Het |
Hdc |
T |
A |
2: 126,458,187 (GRCm39) |
Y45F |
possibly damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Igsf10 |
T |
G |
3: 59,243,752 (GRCm39) |
D194A |
probably damaging |
Het |
Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
Lrpprc |
A |
T |
17: 85,077,452 (GRCm39) |
C412S |
probably benign |
Het |
Mga |
T |
A |
2: 119,747,149 (GRCm39) |
D433E |
probably damaging |
Het |
Myo15a |
A |
T |
11: 60,369,468 (GRCm39) |
S743C |
possibly damaging |
Het |
Myo15b |
T |
G |
11: 115,762,013 (GRCm39) |
L1176R |
possibly damaging |
Het |
Ndor1 |
T |
C |
2: 25,138,047 (GRCm39) |
Q526R |
probably damaging |
Het |
Nipbl |
A |
G |
15: 8,362,508 (GRCm39) |
I1429T |
probably damaging |
Het |
Or1d2 |
T |
A |
11: 74,256,050 (GRCm39) |
L185Q |
probably damaging |
Het |
Or4c126 |
T |
C |
2: 89,824,196 (GRCm39) |
I153T |
probably damaging |
Het |
Or4k38 |
T |
A |
2: 111,165,689 (GRCm39) |
I245L |
probably benign |
Het |
Otogl |
T |
C |
10: 107,710,232 (GRCm39) |
D619G |
probably damaging |
Het |
Pa2g4 |
C |
G |
10: 128,399,464 (GRCm39) |
E67Q |
probably damaging |
Het |
Pnpla1 |
C |
T |
17: 29,096,362 (GRCm39) |
A147V |
probably damaging |
Het |
Prdm13 |
A |
G |
4: 21,683,532 (GRCm39) |
Y143H |
unknown |
Het |
Rad23a |
A |
G |
8: 85,567,193 (GRCm39) |
M1T |
probably null |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Slc10a2 |
A |
T |
8: 5,154,909 (GRCm39) |
I92N |
probably damaging |
Het |
Slc24a4 |
T |
C |
12: 102,185,222 (GRCm39) |
F111L |
probably damaging |
Het |
Sox11 |
T |
C |
12: 27,391,735 (GRCm39) |
T225A |
probably benign |
Het |
Thbs1 |
T |
C |
2: 117,951,640 (GRCm39) |
V820A |
probably benign |
Het |
Unc45a |
G |
T |
7: 79,983,799 (GRCm39) |
N332K |
possibly damaging |
Het |
Vmn1r159 |
A |
C |
7: 22,542,258 (GRCm39) |
I258S |
possibly damaging |
Het |
Wdr31 |
A |
T |
4: 62,375,701 (GRCm39) |
F251L |
possibly damaging |
Het |
Wdr43 |
C |
T |
17: 71,957,601 (GRCm39) |
T530M |
probably benign |
Het |
Zfp445 |
C |
T |
9: 122,681,833 (GRCm39) |
A703T |
probably benign |
Het |
|
Other mutations in 1700010I14Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00988:1700010I14Rik
|
APN |
17 |
9,215,937 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01569:1700010I14Rik
|
APN |
17 |
9,215,827 (GRCm39) |
missense |
probably benign |
0.33 |
IGL03024:1700010I14Rik
|
APN |
17 |
9,212,464 (GRCm39) |
missense |
probably benign |
0.33 |
IGL03410:1700010I14Rik
|
APN |
17 |
9,220,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R0017:1700010I14Rik
|
UTSW |
17 |
9,226,938 (GRCm39) |
utr 3 prime |
probably benign |
|
R0017:1700010I14Rik
|
UTSW |
17 |
9,226,938 (GRCm39) |
utr 3 prime |
probably benign |
|
R0324:1700010I14Rik
|
UTSW |
17 |
9,219,989 (GRCm39) |
missense |
probably benign |
0.33 |
R0361:1700010I14Rik
|
UTSW |
17 |
9,211,378 (GRCm39) |
missense |
probably benign |
0.39 |
R0482:1700010I14Rik
|
UTSW |
17 |
9,207,255 (GRCm39) |
critical splice donor site |
probably null |
|
R0529:1700010I14Rik
|
UTSW |
17 |
9,211,228 (GRCm39) |
missense |
probably benign |
0.32 |
R1102:1700010I14Rik
|
UTSW |
17 |
9,211,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R1964:1700010I14Rik
|
UTSW |
17 |
9,211,324 (GRCm39) |
missense |
probably damaging |
0.99 |
R4259:1700010I14Rik
|
UTSW |
17 |
9,214,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R4261:1700010I14Rik
|
UTSW |
17 |
9,214,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R4687:1700010I14Rik
|
UTSW |
17 |
9,210,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R4707:1700010I14Rik
|
UTSW |
17 |
9,224,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R4839:1700010I14Rik
|
UTSW |
17 |
9,226,845 (GRCm39) |
missense |
probably benign |
0.41 |
R4979:1700010I14Rik
|
UTSW |
17 |
9,220,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R5225:1700010I14Rik
|
UTSW |
17 |
9,226,839 (GRCm39) |
nonsense |
probably null |
|
R5383:1700010I14Rik
|
UTSW |
17 |
9,211,532 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6031:1700010I14Rik
|
UTSW |
17 |
9,214,084 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6031:1700010I14Rik
|
UTSW |
17 |
9,214,084 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6505:1700010I14Rik
|
UTSW |
17 |
9,220,772 (GRCm39) |
missense |
probably benign |
0.08 |
R6736:1700010I14Rik
|
UTSW |
17 |
9,211,100 (GRCm39) |
missense |
probably benign |
0.01 |
R7089:1700010I14Rik
|
UTSW |
17 |
9,226,927 (GRCm39) |
missense |
probably benign |
0.00 |
R7097:1700010I14Rik
|
UTSW |
17 |
9,224,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R7292:1700010I14Rik
|
UTSW |
17 |
9,215,861 (GRCm39) |
nonsense |
probably null |
|
R7405:1700010I14Rik
|
UTSW |
17 |
9,220,649 (GRCm39) |
missense |
probably damaging |
0.99 |
R7567:1700010I14Rik
|
UTSW |
17 |
9,226,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R7877:1700010I14Rik
|
UTSW |
17 |
9,220,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R8794:1700010I14Rik
|
UTSW |
17 |
9,226,939 (GRCm39) |
missense |
unknown |
|
R8805:1700010I14Rik
|
UTSW |
17 |
9,226,737 (GRCm39) |
nonsense |
probably null |
|
R9007:1700010I14Rik
|
UTSW |
17 |
9,226,935 (GRCm39) |
missense |
probably benign |
0.01 |
R9308:1700010I14Rik
|
UTSW |
17 |
9,220,667 (GRCm39) |
nonsense |
probably null |
|
R9400:1700010I14Rik
|
UTSW |
17 |
9,211,118 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTTGAATCTCTCCTGCATGG -3'
(R):5'- ACCTGTTTTGTCCAGTTCAAAG -3'
Sequencing Primer
(F):5'- GAATCTCTCCTGCATGGTTACTTGG -3'
(R):5'- CTGTTTTGTCCAGTTCAAAGTTACAG -3'
|
Posted On |
2015-02-19 |