Incidental Mutation 'R4850:Gm10718'
ID |
430169 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm10718
|
Ensembl Gene |
ENSMUSG00000095186 |
Gene Name |
predicted gene 10718 |
Synonyms |
|
MMRRC Submission |
042462-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.509)
|
Stock # |
R4850 (G1)
|
Quality Score |
21 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
3023547-3025218 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 3023716 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 56
(T56S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096645
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075573]
[ENSMUST00000099046]
[ENSMUST00000099047]
[ENSMUST00000099049]
[ENSMUST00000177601]
[ENSMUST00000177875]
[ENSMUST00000179272]
[ENSMUST00000179982]
|
AlphaFold |
D3Z1I7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075573
|
SMART Domains |
Protein: ENSMUSP00000096644 Gene: ENSMUSG00000095891
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
41 |
1.06e-10 |
PROSPERO |
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
internal_repeat_1
|
118 |
177 |
1.06e-10 |
PROSPERO |
transmembrane domain
|
200 |
222 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099046
AA Change: T56S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000096645 Gene: ENSMUSG00000095186 AA Change: T56S
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
41 |
4.44e-7 |
PROSPERO |
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
internal_repeat_1
|
117 |
177 |
4.44e-7 |
PROSPERO |
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099047
|
SMART Domains |
Protein: ENSMUSP00000096646 Gene: ENSMUSG00000095547
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
40 |
1.58e-10 |
PROSPERO |
transmembrane domain
|
53 |
72 |
N/A |
INTRINSIC |
transmembrane domain
|
77 |
99 |
N/A |
INTRINSIC |
internal_repeat_1
|
117 |
176 |
1.58e-10 |
PROSPERO |
transmembrane domain
|
199 |
221 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099049
|
SMART Domains |
Protein: ENSMUSP00000096648 Gene: ENSMUSG00000095547
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
46 |
2.19e-9 |
PROSPERO |
transmembrane domain
|
62 |
84 |
N/A |
INTRINSIC |
internal_repeat_1
|
117 |
182 |
2.19e-9 |
PROSPERO |
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177601
|
SMART Domains |
Protein: ENSMUSP00000136755 Gene: ENSMUSG00000095891
Domain | Start | End | E-Value | Type |
internal_repeat_2
|
1 |
24 |
2.26e-6 |
PROSPERO |
internal_repeat_1
|
2 |
37 |
2.26e-6 |
PROSPERO |
internal_repeat_1
|
40 |
95 |
2.26e-6 |
PROSPERO |
internal_repeat_2
|
118 |
142 |
2.26e-6 |
PROSPERO |
low complexity region
|
147 |
159 |
N/A |
INTRINSIC |
low complexity region
|
169 |
183 |
N/A |
INTRINSIC |
transmembrane domain
|
186 |
208 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177875
|
SMART Domains |
Protein: ENSMUSP00000137419 Gene: ENSMUSG00000095891
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
49 |
1.49e-11 |
PROSPERO |
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
internal_repeat_1
|
118 |
186 |
1.49e-11 |
PROSPERO |
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179272
|
SMART Domains |
Protein: ENSMUSP00000136170 Gene: ENSMUSG00000095547
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
49 |
2.1e-10 |
PROSPERO |
transmembrane domain
|
74 |
96 |
N/A |
INTRINSIC |
internal_repeat_1
|
118 |
186 |
2.1e-10 |
PROSPERO |
transmembrane domain
|
198 |
217 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181957
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181572
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179982
|
SMART Domains |
Protein: ENSMUSP00000136365 Gene: ENSMUSG00000095891
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
35 |
7.76e-13 |
PROSPERO |
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
internal_repeat_1
|
117 |
152 |
7.76e-13 |
PROSPERO |
low complexity region
|
157 |
169 |
N/A |
INTRINSIC |
transmembrane domain
|
198 |
220 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
99% (79/80) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,709,429 (GRCm39) |
A42T |
probably benign |
Het |
Acsf3 |
T |
C |
8: 123,544,175 (GRCm39) |
V551A |
probably damaging |
Het |
Adgrl2 |
G |
A |
3: 148,564,656 (GRCm39) |
T304I |
probably damaging |
Het |
Akr1d1 |
A |
G |
6: 37,531,522 (GRCm39) |
|
probably null |
Het |
Ankrd17 |
A |
T |
5: 90,412,645 (GRCm39) |
H1226Q |
probably damaging |
Het |
Arap1 |
T |
C |
7: 101,047,998 (GRCm39) |
I847T |
probably damaging |
Het |
Atad2b |
G |
A |
12: 4,993,251 (GRCm39) |
G257S |
probably benign |
Het |
Cand2 |
A |
T |
6: 115,778,909 (GRCm39) |
T1158S |
probably benign |
Het |
Cic |
G |
A |
7: 24,972,327 (GRCm39) |
R686H |
probably damaging |
Het |
Cldn1 |
T |
A |
16: 26,181,913 (GRCm39) |
T99S |
probably benign |
Het |
Cnga3 |
G |
T |
1: 37,297,087 (GRCm39) |
E173* |
probably null |
Het |
Cplane1 |
T |
C |
15: 8,292,422 (GRCm39) |
S3012P |
unknown |
Het |
Cryge |
G |
T |
1: 65,090,211 (GRCm39) |
|
probably benign |
Het |
Dsp |
T |
A |
13: 38,376,445 (GRCm39) |
L1410H |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,134,364 (GRCm39) |
T1548A |
probably benign |
Het |
Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,756,878 (GRCm39) |
D1917G |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fn3krp |
A |
T |
11: 121,315,879 (GRCm39) |
H90L |
possibly damaging |
Het |
Garin2 |
A |
G |
12: 78,761,927 (GRCm39) |
D197G |
probably damaging |
Het |
Gm4847 |
A |
T |
1: 166,469,908 (GRCm39) |
I55K |
probably damaging |
Het |
Gsn |
T |
A |
2: 35,173,912 (GRCm39) |
|
probably null |
Het |
H2bc11 |
G |
T |
13: 22,227,421 (GRCm39) |
|
probably benign |
Het |
Haghl |
T |
C |
17: 26,001,980 (GRCm39) |
|
probably benign |
Het |
Hmg20b |
T |
A |
10: 81,182,761 (GRCm39) |
E139V |
probably damaging |
Het |
Hsd3b6 |
G |
A |
3: 98,715,221 (GRCm39) |
T57I |
probably benign |
Het |
Igkv5-48 |
A |
G |
6: 69,703,780 (GRCm39) |
S42P |
probably damaging |
Het |
Igsf23 |
T |
C |
7: 19,687,859 (GRCm39) |
|
probably benign |
Het |
Kcnt1 |
T |
C |
2: 25,798,112 (GRCm39) |
F874L |
probably damaging |
Het |
Maf1 |
T |
C |
15: 76,237,162 (GRCm39) |
F110L |
possibly damaging |
Het |
Mtpap |
C |
T |
18: 4,387,044 (GRCm39) |
R365W |
probably damaging |
Het |
Mtus1 |
A |
C |
8: 41,537,507 (GRCm39) |
S70A |
possibly damaging |
Het |
Nfatc1 |
T |
A |
18: 80,741,080 (GRCm39) |
T307S |
probably benign |
Het |
Nphs1 |
T |
G |
7: 30,162,657 (GRCm39) |
S379A |
possibly damaging |
Het |
Nup205 |
A |
G |
6: 35,207,465 (GRCm39) |
T1506A |
probably benign |
Het |
Or13f5 |
T |
C |
4: 52,825,450 (GRCm39) |
S18P |
possibly damaging |
Het |
Or8u9 |
T |
A |
2: 86,002,015 (GRCm39) |
I49F |
probably damaging |
Het |
Pcdhga8 |
A |
T |
18: 37,860,762 (GRCm39) |
Y606F |
probably damaging |
Het |
Pde7a |
A |
G |
3: 19,297,281 (GRCm39) |
V123A |
probably benign |
Het |
Pex1 |
C |
T |
5: 3,674,426 (GRCm39) |
T809I |
probably benign |
Het |
Prdm13 |
C |
A |
4: 21,678,243 (GRCm39) |
R749L |
possibly damaging |
Het |
Prkcd |
A |
G |
14: 30,321,700 (GRCm39) |
L498P |
probably damaging |
Het |
Pros1 |
A |
T |
16: 62,705,887 (GRCm39) |
E67V |
probably damaging |
Het |
Rab44 |
A |
G |
17: 29,359,063 (GRCm39) |
E417G |
possibly damaging |
Het |
Rangrf |
A |
G |
11: 68,864,466 (GRCm39) |
|
probably null |
Het |
Rp1 |
T |
A |
1: 4,418,898 (GRCm39) |
K738M |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,683,706 (GRCm39) |
D3119E |
probably damaging |
Het |
Ryr2 |
G |
A |
13: 11,760,638 (GRCm39) |
R1482C |
probably damaging |
Het |
Sbspon |
T |
A |
1: 15,929,192 (GRCm39) |
T200S |
probably damaging |
Het |
Sfxn5 |
T |
C |
6: 85,309,358 (GRCm39) |
|
probably benign |
Het |
Slc26a8 |
T |
A |
17: 28,873,857 (GRCm39) |
I377F |
probably benign |
Het |
Slc30a7 |
A |
G |
3: 115,786,657 (GRCm39) |
F72L |
probably damaging |
Het |
Slc32a1 |
T |
C |
2: 158,456,112 (GRCm39) |
F256L |
possibly damaging |
Het |
Slco6b1 |
T |
C |
1: 96,839,558 (GRCm39) |
|
noncoding transcript |
Het |
Smpd1 |
A |
G |
7: 105,205,192 (GRCm39) |
H357R |
probably benign |
Het |
Sncaip |
A |
T |
18: 53,004,456 (GRCm39) |
H361L |
probably damaging |
Het |
Tenm2 |
A |
C |
11: 35,914,315 (GRCm39) |
Y2406* |
probably null |
Het |
Terb1 |
T |
A |
8: 105,212,057 (GRCm39) |
H308L |
probably benign |
Het |
Trim61 |
A |
T |
8: 65,466,070 (GRCm39) |
L397H |
probably damaging |
Het |
Trp53bp1 |
T |
A |
2: 121,035,594 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
G |
2: 76,611,899 (GRCm39) |
E9007D |
possibly damaging |
Het |
Urb1 |
A |
T |
16: 90,592,302 (GRCm39) |
C319* |
probably null |
Het |
Vmn2r95 |
T |
C |
17: 18,671,915 (GRCm39) |
Y551H |
probably damaging |
Het |
Vwde |
A |
T |
6: 13,196,047 (GRCm39) |
V326D |
possibly damaging |
Het |
Xdh |
A |
G |
17: 74,205,330 (GRCm39) |
L1045P |
probably damaging |
Het |
Zfp638 |
T |
C |
6: 83,956,457 (GRCm39) |
I1688T |
possibly damaging |
Het |
Zwint |
T |
A |
10: 72,491,788 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Gm10718 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01863:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01865:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01867:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01868:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01869:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01870:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01871:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01874:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01877:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01878:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01879:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01880:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01881:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01883:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01884:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01885:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01886:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01887:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01888:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01890:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01891:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01894:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01895:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01896:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01897:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01898:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01901:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01903:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01904:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01905:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01908:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01909:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01910:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01912:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01917:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01918:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01919:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01920:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01924:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01925:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01926:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01928:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01929:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01932:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01933:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01934:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01937:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01938:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01941:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01944:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01945:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01946:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01947:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01949:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01950:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01951:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01952:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01953:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01958:Gm10718
|
APN |
9 |
3,025,118 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4131001:Gm10718
|
UTSW |
9 |
3,024,417 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4142001:Gm10718
|
UTSW |
9 |
3,024,417 (GRCm39) |
missense |
probably benign |
0.01 |
R4567:Gm10718
|
UTSW |
9 |
3,023,716 (GRCm39) |
missense |
probably benign |
0.01 |
RF039:Gm10718
|
UTSW |
9 |
3,024,385 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGTCCTACAGTGTGCATTTCTCA -3'
(R):5'- ATTTCCACTGTAGGACATGGAA -3'
Sequencing Primer
(F):5'- CAAGTCGTCAAGTGGATGTTTCTC -3'
(R):5'- TTCCACTGTAGGACATGGAATATGGC -3'
|
Posted On |
2016-09-07 |