Incidental Mutation 'PIT4498001:Gm10800'
| ID |
556048 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm10800
|
| Ensembl Gene |
ENSMUSG00000075014 |
| Gene Name |
predicted gene 10800 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
PIT4498001 (G1)
|
| Quality Score |
126.097 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
98496892-98497646 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA to CAAGAAAACTGAAAATCA
at 98497361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099683]
[ENSMUST00000099684]
|
| AlphaFold |
D3Z496 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000099683
|
| SMART Domains |
Protein: ENSMUSP00000097275
Gene: ENSMUSG00000075014
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
1 |
41 |
1.13e-5 |
PROSPERO |
|
internal_repeat_2
|
26 |
49 |
4.11e-5 |
PROSPERO |
|
transmembrane domain
|
78 |
96 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
114 |
174 |
1.13e-5 |
PROSPERO |
|
low complexity region
|
177 |
188 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
197 |
219 |
4.11e-5 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099684
|
| SMART Domains |
Protein: ENSMUSP00000097276
Gene: ENSMUSG00000075015
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
2 |
73 |
1.19e-13 |
PROSPERO |
|
internal_repeat_1
|
80 |
167 |
1.19e-13 |
PROSPERO |
|
| Coding Region Coverage |
- 1x: 93.2%
- 3x: 91.0%
- 10x: 86.1%
- 20x: 75.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
T |
C |
19: 40,562,800 (GRCm39) |
N191S |
probably benign |
Het |
| Cacnb2 |
T |
A |
2: 14,879,630 (GRCm39) |
L84* |
probably null |
Het |
| Cdhr2 |
C |
T |
13: 54,866,052 (GRCm39) |
T284M |
possibly damaging |
Het |
| Defb45 |
T |
C |
2: 152,438,394 (GRCm39) |
|
probably benign |
Het |
| Dkk3 |
C |
T |
7: 111,718,679 (GRCm39) |
V236M |
probably benign |
Het |
| Dscc1 |
A |
T |
15: 54,945,711 (GRCm39) |
V328D |
probably benign |
Het |
| Epha3 |
T |
C |
16: 63,372,889 (GRCm39) |
Y938C |
probably damaging |
Het |
| Erc1 |
A |
T |
6: 119,756,452 (GRCm39) |
F435I |
possibly damaging |
Het |
| Fbxl5 |
T |
C |
5: 43,908,323 (GRCm39) |
Y626C |
possibly damaging |
Het |
| Fmn2 |
A |
G |
1: 174,440,170 (GRCm39) |
R1196G |
probably damaging |
Het |
| Gabrr1 |
C |
T |
4: 33,160,225 (GRCm39) |
S303F |
probably damaging |
Het |
| Ggt1 |
T |
C |
10: 75,414,689 (GRCm39) |
V169A |
possibly damaging |
Het |
| Gm3182 |
T |
A |
14: 4,481,832 (GRCm38) |
C9S |
probably damaging |
Het |
| Gpr88 |
A |
C |
3: 116,046,264 (GRCm39) |
S16A |
unknown |
Het |
| Kalrn |
A |
T |
16: 33,851,952 (GRCm39) |
M2076K |
possibly damaging |
Het |
| Katnip |
A |
G |
7: 125,412,768 (GRCm39) |
T371A |
probably benign |
Het |
| Kcnd3 |
T |
C |
3: 105,566,025 (GRCm39) |
I402T |
probably damaging |
Het |
| Mink1 |
A |
G |
11: 70,489,714 (GRCm39) |
D57G |
probably benign |
Het |
| Ncl |
T |
C |
1: 86,279,162 (GRCm39) |
T584A |
possibly damaging |
Het |
| Nfx1 |
A |
T |
4: 40,977,244 (GRCm39) |
Q306L |
probably benign |
Het |
| Ogdh |
A |
T |
11: 6,290,504 (GRCm39) |
D374V |
probably benign |
Het |
| Or5d39 |
T |
A |
2: 87,980,259 (GRCm39) |
T35S |
probably benign |
Het |
| Pak5 |
T |
A |
2: 135,925,211 (GRCm39) |
H697L |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,234,469 (GRCm39) |
C1425R |
probably damaging |
Het |
| Pramel26 |
T |
C |
4: 143,539,406 (GRCm39) |
E29G |
possibly damaging |
Het |
| Rab3gap2 |
T |
A |
1: 185,013,882 (GRCm39) |
I1196N |
probably damaging |
Het |
| Ralyl |
A |
T |
3: 14,172,299 (GRCm39) |
D56V |
probably damaging |
Het |
| Scin |
C |
T |
12: 40,119,446 (GRCm39) |
|
probably null |
Het |
| Slc25a19 |
T |
C |
11: 115,514,781 (GRCm39) |
I69V |
possibly damaging |
Het |
| Slc8a1 |
G |
T |
17: 81,956,269 (GRCm39) |
Y256* |
probably null |
Het |
| Smyd1 |
T |
C |
6: 71,196,272 (GRCm39) |
H372R |
probably benign |
Het |
| St8sia1 |
T |
C |
6: 142,859,848 (GRCm39) |
T94A |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,527,916 (GRCm39) |
M1391K |
possibly damaging |
Het |
| Tlr9 |
G |
A |
9: 106,100,721 (GRCm39) |
R4H |
probably benign |
Het |
| Trim50 |
A |
G |
5: 135,382,331 (GRCm39) |
D61G |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,597,295 (GRCm39) |
P19873S |
probably damaging |
Het |
| Vmn1r228 |
G |
T |
17: 20,996,772 (GRCm39) |
H249N |
probably benign |
Het |
| Vmn2r108 |
C |
T |
17: 20,683,279 (GRCm39) |
G642S |
probably damaging |
Het |
| Wdr27 |
A |
G |
17: 15,154,831 (GRCm39) |
S29P |
probably benign |
Het |
| Zan |
A |
G |
5: 137,415,298 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gm10800 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01022:Gm10800
|
APN |
2 |
98,497,576 (GRCm39) |
unclassified |
probably benign |
|
|
BB012:Gm10800
|
UTSW |
2 |
98,497,378 (GRCm39) |
frame shift |
probably null |
|
|
FR4976:Gm10800
|
UTSW |
2 |
98,497,378 (GRCm39) |
frame shift |
probably null |
|
|
PIT4131001:Gm10800
|
UTSW |
2 |
98,497,250 (GRCm39) |
missense |
probably benign |
|
|
PIT4131001:Gm10800
|
UTSW |
2 |
98,497,163 (GRCm39) |
missense |
probably benign |
|
|
PIT4131001:Gm10800
|
UTSW |
2 |
98,496,893 (GRCm39) |
missense |
probably benign |
0.11 |
|
PIT4142001:Gm10800
|
UTSW |
2 |
98,497,250 (GRCm39) |
missense |
probably benign |
|
|
PIT4142001:Gm10800
|
UTSW |
2 |
98,497,163 (GRCm39) |
missense |
probably benign |
|
|
PIT4142001:Gm10800
|
UTSW |
2 |
98,496,893 (GRCm39) |
missense |
probably benign |
0.11 |
|
PIT4142001:Gm10800
|
UTSW |
2 |
98,497,361 (GRCm39) |
frame shift |
probably null |
|
|
PIT4402001:Gm10800
|
UTSW |
2 |
98,497,361 (GRCm39) |
frame shift |
probably null |
|
|
R0025:Gm10800
|
UTSW |
2 |
98,496,925 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5077:Gm10800
|
UTSW |
2 |
98,497,379 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5687:Gm10800
|
UTSW |
2 |
98,496,965 (GRCm39) |
missense |
probably benign |
|
|
R7146:Gm10800
|
UTSW |
2 |
98,497,378 (GRCm39) |
frame shift |
probably null |
|
|
R7206:Gm10800
|
UTSW |
2 |
98,497,378 (GRCm39) |
frame shift |
probably null |
|
|
R7619:Gm10800
|
UTSW |
2 |
98,497,378 (GRCm39) |
frame shift |
probably null |
|
|
R7930:Gm10800
|
UTSW |
2 |
98,497,379 (GRCm39) |
unclassified |
probably benign |
|
|
R7931:Gm10800
|
UTSW |
2 |
98,497,379 (GRCm39) |
unclassified |
probably benign |
|
|
R7998:Gm10800
|
UTSW |
2 |
98,497,378 (GRCm39) |
frame shift |
probably null |
|
|
R8019:Gm10800
|
UTSW |
2 |
98,497,378 (GRCm39) |
frame shift |
probably null |
|
|
R8110:Gm10800
|
UTSW |
2 |
98,497,361 (GRCm39) |
frame shift |
probably null |
|
|
R8111:Gm10800
|
UTSW |
2 |
98,497,361 (GRCm39) |
frame shift |
probably null |
|
|
R8488:Gm10800
|
UTSW |
2 |
98,497,379 (GRCm39) |
unclassified |
probably benign |
|
|
R8509:Gm10800
|
UTSW |
2 |
98,497,379 (GRCm39) |
unclassified |
probably benign |
|
|
R8692:Gm10800
|
UTSW |
2 |
98,497,379 (GRCm39) |
unclassified |
probably benign |
|
|
R8722:Gm10800
|
UTSW |
2 |
98,497,379 (GRCm39) |
unclassified |
probably benign |
|
|
R8789:Gm10800
|
UTSW |
2 |
98,497,361 (GRCm39) |
frame shift |
probably null |
|
|
R8902:Gm10800
|
UTSW |
2 |
98,497,361 (GRCm39) |
frame shift |
probably null |
|
|
R8903:Gm10800
|
UTSW |
2 |
98,497,361 (GRCm39) |
frame shift |
probably null |
|
|
R8935:Gm10800
|
UTSW |
2 |
98,497,378 (GRCm39) |
frame shift |
probably null |
|
|
R9104:Gm10800
|
UTSW |
2 |
98,497,379 (GRCm39) |
unclassified |
probably benign |
|
|
R9571:Gm10800
|
UTSW |
2 |
98,497,378 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGAAACATCTACTTGACGACTTG -3'
(R):5'- TGTGTGTACCTACTTTGGAAACAG -3'
Sequencing Primer
(F):5'- CTACTTGACGACTTGAAAAATGACG -3'
(R):5'- GCCATATTTCACGTCCTAAAGTGTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation