Incidental Mutation 'IGL01924:Gm21738'
| ID |
279128 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm21738
|
| Ensembl Gene |
ENSMUSG00000095280 |
| Gene Name |
predicted gene, 21738 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.905)
|
| Stock # |
IGL01924
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
(GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 19416979 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 144
(S144L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177817]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177817
AA Change: S144L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000137127
Gene: ENSMUSG00000095280
AA Change: S144L
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
1 |
19 |
1.11e-9 |
PROSPERO |
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
77 |
99 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
117 |
135 |
1.11e-9 |
PROSPERO |
|
transmembrane domain
|
152 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
195 |
N/A |
INTRINSIC |
|
transmembrane domain
|
198 |
220 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
C |
T |
5: 114,362,047 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
A |
G |
2: 26,886,595 (GRCm39) |
E938G |
possibly damaging |
Het |
| Aox1 |
C |
T |
1: 58,326,902 (GRCm39) |
T167I |
possibly damaging |
Het |
| Apba3 |
G |
T |
10: 81,108,907 (GRCm39) |
A557S |
probably benign |
Het |
| Atad2b |
T |
C |
12: 5,084,093 (GRCm39) |
L1382P |
probably damaging |
Het |
| Atrn |
C |
T |
2: 130,777,485 (GRCm39) |
T178I |
probably damaging |
Het |
| B4galnt1 |
A |
G |
10: 127,002,630 (GRCm39) |
S88G |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,765,615 (GRCm39) |
K887E |
probably damaging |
Het |
| Castor2 |
T |
C |
5: 134,164,441 (GRCm39) |
F134S |
probably benign |
Het |
| Ccdc162 |
A |
C |
10: 41,445,883 (GRCm39) |
F430V |
probably damaging |
Het |
| Cdc42bpb |
T |
A |
12: 111,283,887 (GRCm39) |
|
probably benign |
Het |
| Cfhr4 |
G |
A |
1: 139,666,944 (GRCm39) |
L444F |
probably damaging |
Het |
| Chit1 |
A |
G |
1: 134,077,148 (GRCm39) |
D317G |
probably benign |
Het |
| Chrnb1 |
A |
T |
11: 69,685,845 (GRCm39) |
|
probably benign |
Het |
| Cobl |
G |
T |
11: 12,204,596 (GRCm39) |
T620K |
probably benign |
Het |
| Creld1 |
T |
C |
6: 113,460,921 (GRCm39) |
F20L |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,453,740 (GRCm39) |
D3475V |
unknown |
Het |
| Cyp3a57 |
A |
G |
5: 145,309,439 (GRCm39) |
D259G |
probably benign |
Het |
| Dbnl |
A |
G |
11: 5,747,142 (GRCm39) |
Y224C |
probably damaging |
Het |
| Det1 |
A |
T |
7: 78,493,571 (GRCm39) |
C144* |
probably null |
Het |
| Fbxo47 |
G |
T |
11: 97,746,986 (GRCm39) |
A360D |
probably damaging |
Het |
| Frrs1 |
G |
A |
3: 116,678,888 (GRCm39) |
G237R |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,617,638 (GRCm39) |
T372A |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,288,929 (GRCm39) |
Q2246L |
probably benign |
Het |
| Ide |
T |
C |
19: 37,249,563 (GRCm39) |
M930V |
unknown |
Het |
| Kdm5a |
T |
C |
6: 120,371,216 (GRCm39) |
|
probably null |
Het |
| Khnyn |
A |
G |
14: 56,132,426 (GRCm39) |
T625A |
probably benign |
Het |
| Lrrtm1 |
T |
C |
6: 77,221,169 (GRCm39) |
F209L |
possibly damaging |
Het |
| Med13 |
C |
A |
11: 86,199,522 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
A |
G |
8: 15,119,685 (GRCm39) |
E147G |
probably benign |
Het |
| Myrip |
T |
A |
9: 120,217,330 (GRCm39) |
V88D |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,460,482 (GRCm39) |
H1784R |
probably benign |
Het |
| Nlrp4e |
T |
A |
7: 23,020,255 (GRCm39) |
C247* |
probably null |
Het |
| Nup54 |
G |
A |
5: 92,572,294 (GRCm39) |
P252L |
probably benign |
Het |
| Or51ag1 |
A |
G |
7: 103,156,003 (GRCm39) |
I50T |
possibly damaging |
Het |
| Otoa |
C |
A |
7: 120,705,191 (GRCm39) |
N244K |
probably damaging |
Het |
| Pbrm1 |
G |
A |
14: 30,804,561 (GRCm39) |
R960H |
probably damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,875,411 (GRCm39) |
N190K |
probably damaging |
Het |
| Rhobtb1 |
T |
A |
10: 69,106,134 (GRCm39) |
L233H |
probably damaging |
Het |
| Sec24c |
T |
A |
14: 20,739,757 (GRCm39) |
F545I |
probably damaging |
Het |
| Slc6a15 |
T |
C |
10: 103,240,686 (GRCm39) |
|
probably null |
Het |
| Slitrk1 |
G |
A |
14: 109,148,671 (GRCm39) |
A680V |
probably benign |
Het |
| Smpd1 |
C |
T |
7: 105,204,655 (GRCm39) |
S178L |
probably benign |
Het |
| Spindoc |
A |
G |
19: 7,360,042 (GRCm39) |
L42P |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,544,419 (GRCm39) |
E2145G |
probably damaging |
Het |
| Tmem144 |
G |
T |
3: 79,746,501 (GRCm39) |
A18E |
probably damaging |
Het |
| Tmem213 |
A |
T |
6: 38,086,373 (GRCm39) |
S10C |
possibly damaging |
Het |
| Trav6-3 |
A |
T |
14: 53,667,800 (GRCm39) |
I102L |
probably benign |
Het |
| Trip11 |
T |
G |
12: 101,853,143 (GRCm39) |
N483T |
possibly damaging |
Het |
| Unc13b |
C |
T |
4: 43,239,385 (GRCm39) |
R1056* |
probably null |
Het |
| Wdr27 |
T |
G |
17: 15,137,488 (GRCm39) |
K433N |
probably damaging |
Het |
| Wls |
C |
A |
3: 159,607,080 (GRCm39) |
S189* |
probably null |
Het |
| Yeats2 |
A |
G |
16: 20,024,917 (GRCm39) |
N706D |
probably damaging |
Het |
| Zbp1 |
A |
G |
2: 173,054,047 (GRCm39) |
V158A |
probably benign |
Het |
| Zfp595 |
G |
T |
13: 67,465,847 (GRCm39) |
H139N |
possibly damaging |
Het |
|
| Other mutations in Gm21738 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Gm21738
|
APN |
14 |
19,418,885 (GRCm38) |
missense |
probably benign |
|
|
IGL01010:Gm21738
|
APN |
14 |
19,417,361 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01018:Gm21738
|
APN |
14 |
19,418,856 (GRCm38) |
missense |
probably benign |
0.39 |
|
IGL01865:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01869:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01873:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01877:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01878:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01879:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01880:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01882:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01883:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01884:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01885:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01886:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01888:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01891:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01892:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01893:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01894:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01895:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01896:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01898:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01899:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01900:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01901:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01902:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01903:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01904:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01905:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01906:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01908:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01909:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01910:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01911:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01912:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01913:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01914:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01915:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01916:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01917:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01918:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01919:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01922:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01923:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01925:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01926:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01932:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01940:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01949:Gm21738
|
APN |
14 |
19,416,979 (GRCm38) |
missense |
probably benign |
0.01 |
|
PIT4131001:Gm21738
|
UTSW |
14 |
19,417,330 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4142001:Gm21738
|
UTSW |
14 |
19,417,330 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0831:Gm21738
|
UTSW |
14 |
19,415,963 (GRCm38) |
missense |
probably benign |
|
|
R0831:Gm21738
|
UTSW |
14 |
19,415,957 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0976:Gm21738
|
UTSW |
14 |
19,415,963 (GRCm38) |
missense |
probably benign |
|
|
R1029:Gm21738
|
UTSW |
14 |
19,415,957 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1146:Gm21738
|
UTSW |
14 |
19,415,963 (GRCm38) |
missense |
probably benign |
|
|
R1231:Gm21738
|
UTSW |
14 |
19,415,963 (GRCm38) |
missense |
probably benign |
|
|
R1231:Gm21738
|
UTSW |
14 |
19,415,957 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1402:Gm21738
|
UTSW |
14 |
19,415,963 (GRCm38) |
missense |
probably benign |
|
|
R1402:Gm21738
|
UTSW |
14 |
19,415,957 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1638:Gm21738
|
UTSW |
14 |
19,418,908 (GRCm38) |
missense |
probably benign |
|
|
R1874:Gm21738
|
UTSW |
14 |
19,418,824 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R4392:Gm21738
|
UTSW |
14 |
19,417,178 (GRCm38) |
missense |
probably benign |
|
|
R4393:Gm21738
|
UTSW |
14 |
19,417,178 (GRCm38) |
missense |
probably benign |
|
|
R5049:Gm21738
|
UTSW |
14 |
19,415,957 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5257:Gm21738
|
UTSW |
14 |
19,415,942 (GRCm38) |
missense |
probably benign |
|
|
R6756:Gm21738
|
UTSW |
14 |
19,418,824 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R6915:Gm21738
|
UTSW |
14 |
19,415,933 (GRCm38) |
missense |
probably benign |
|
|
V5622:Gm21738
|
UTSW |
14 |
19,417,180 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation