Incidental Mutation 'IGL02167:Sardh'
| ID |
282766 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sardh
|
| Ensembl Gene |
ENSMUSG00000009614 |
| Gene Name |
sarcosine dehydrogenase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
IGL02167
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
27188393-27248337 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 27191975 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 846
(N846K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102886]
|
| AlphaFold |
Q99LB7 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000091224
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102886
AA Change: N846K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: N846K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAO
|
69 |
428 |
1.7e-63 |
PFAM |
|
Pfam:FAO_M
|
431 |
486 |
9.2e-22 |
PFAM |
|
Pfam:GCV_T
|
489 |
799 |
3.1e-64 |
PFAM |
|
Pfam:GCV_T_C
|
807 |
904 |
4.7e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127805
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142136
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156434
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170435
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,122,722 (GRCm38) |
|
probably benign |
Het |
| Cacna1f |
T |
C |
X: 7,616,019 (GRCm38) |
Y581H |
probably damaging |
Het |
| Camsap1 |
C |
T |
2: 25,934,300 (GRCm38) |
R1416H |
probably damaging |
Het |
| Ccdc117 |
T |
C |
11: 5,531,333 (GRCm38) |
E266G |
possibly damaging |
Het |
| Ccdc9 |
A |
T |
7: 16,284,359 (GRCm38) |
L8* |
probably null |
Het |
| Cited2 |
T |
C |
10: 17,724,270 (GRCm38) |
S109P |
probably benign |
Het |
| Cnot4 |
T |
C |
6: 35,056,224 (GRCm38) |
D286G |
possibly damaging |
Het |
| Col5a1 |
T |
C |
2: 28,018,556 (GRCm38) |
I52T |
probably benign |
Het |
| Cry2 |
T |
C |
2: 92,433,821 (GRCm38) |
N68S |
possibly damaging |
Het |
| Cul4a |
T |
C |
8: 13,122,826 (GRCm38) |
F153S |
probably damaging |
Het |
| Ddr1 |
T |
C |
17: 35,690,071 (GRCm38) |
S261G |
possibly damaging |
Het |
| Depdc5 |
G |
A |
5: 32,903,801 (GRCm38) |
R324Q |
probably damaging |
Het |
| Dmgdh |
A |
G |
13: 93,720,627 (GRCm38) |
|
probably benign |
Het |
| Epha8 |
A |
T |
4: 136,931,094 (GRCm38) |
M990K |
probably damaging |
Het |
| Gpr137c |
G |
T |
14: 45,279,955 (GRCm38) |
G383C |
probably damaging |
Het |
| Hydin |
T |
A |
8: 110,418,423 (GRCm38) |
I802N |
possibly damaging |
Het |
| Ifne |
A |
G |
4: 88,879,828 (GRCm38) |
Y118H |
possibly damaging |
Het |
| Kansl2 |
T |
C |
15: 98,533,515 (GRCm38) |
|
probably benign |
Het |
| Lig4 |
T |
A |
8: 9,971,821 (GRCm38) |
N653I |
probably benign |
Het |
| Nagk |
A |
G |
6: 83,801,106 (GRCm38) |
D246G |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,470,961 (GRCm38) |
S628P |
probably damaging |
Het |
| Ncoa3 |
A |
G |
2: 166,070,136 (GRCm38) |
Y1401C |
probably damaging |
Het |
| Ndufa9 |
A |
G |
6: 126,844,785 (GRCm38) |
|
probably benign |
Het |
| Nynrin |
G |
T |
14: 55,863,335 (GRCm38) |
R194L |
probably damaging |
Het |
| Or10a4 |
A |
T |
7: 107,097,661 (GRCm38) |
R65S |
probably benign |
Het |
| Or10ag53 |
G |
A |
2: 87,252,198 (GRCm38) |
C87Y |
probably benign |
Het |
| Or13a17 |
T |
A |
7: 140,691,751 (GRCm38) |
V282D |
probably damaging |
Het |
| Orc2 |
A |
T |
1: 58,483,639 (GRCm38) |
|
probably benign |
Het |
| Oxgr1 |
T |
A |
14: 120,021,930 (GRCm38) |
R288S |
probably damaging |
Het |
| Pgap6 |
T |
C |
17: 26,119,071 (GRCm38) |
S450P |
probably damaging |
Het |
| Prkcg |
T |
C |
7: 3,322,581 (GRCm38) |
|
probably null |
Het |
| Prox1 |
T |
C |
1: 190,161,280 (GRCm38) |
N323D |
probably benign |
Het |
| Prrt1 |
A |
C |
17: 34,631,855 (GRCm38) |
E215A |
possibly damaging |
Het |
| Rab2b |
T |
C |
14: 52,268,696 (GRCm38) |
D103G |
probably damaging |
Het |
| Slc38a8 |
T |
A |
8: 119,487,360 (GRCm38) |
T248S |
probably benign |
Het |
| Slc6a18 |
T |
C |
13: 73,666,472 (GRCm38) |
|
probably null |
Het |
| Smcp |
T |
C |
3: 92,584,199 (GRCm38) |
T114A |
unknown |
Het |
| Trpv1 |
A |
G |
11: 73,254,797 (GRCm38) |
N754D |
probably damaging |
Het |
| Txnrd1 |
A |
T |
10: 82,881,911 (GRCm38) |
H243L |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 101,961,157 (GRCm38) |
M125V |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,071,125 (GRCm38) |
|
probably null |
Het |
| Wrn |
T |
C |
8: 33,317,555 (GRCm38) |
M292V |
probably damaging |
Het |
| Zbtb17 |
T |
C |
4: 141,461,829 (GRCm38) |
L20P |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 54,988,224 (GRCm38) |
H97R |
probably damaging |
Het |
| Zfp68 |
T |
A |
5: 138,606,367 (GRCm38) |
M565L |
probably benign |
Het |
| Zfp687 |
T |
C |
3: 95,010,530 (GRCm38) |
T644A |
probably benign |
Het |
| Zfp777 |
C |
T |
6: 48,044,526 (GRCm38) |
G54D |
probably damaging |
Het |
|
| Other mutations in Sardh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01110:Sardh
|
APN |
2 |
27,215,113 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL01686:Sardh
|
APN |
2 |
27,189,613 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01868:Sardh
|
APN |
2 |
27,227,147 (GRCm38) |
missense |
probably benign |
0.35 |
|
IGL02272:Sardh
|
APN |
2 |
27,224,991 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02870:Sardh
|
APN |
2 |
27,235,491 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL03117:Sardh
|
APN |
2 |
27,239,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4305001:Sardh
|
UTSW |
2 |
27,228,314 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4791001:Sardh
|
UTSW |
2 |
27,197,648 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0265:Sardh
|
UTSW |
2 |
27,227,066 (GRCm38) |
splice site |
probably benign |
|
|
R0781:Sardh
|
UTSW |
2 |
27,191,919 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1110:Sardh
|
UTSW |
2 |
27,191,919 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1242:Sardh
|
UTSW |
2 |
27,235,563 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1404:Sardh
|
UTSW |
2 |
27,239,461 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1404:Sardh
|
UTSW |
2 |
27,239,461 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1514:Sardh
|
UTSW |
2 |
27,197,690 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1565:Sardh
|
UTSW |
2 |
27,242,719 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1832:Sardh
|
UTSW |
2 |
27,235,569 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1836:Sardh
|
UTSW |
2 |
27,215,182 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R1997:Sardh
|
UTSW |
2 |
27,244,397 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2006:Sardh
|
UTSW |
2 |
27,228,339 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2046:Sardh
|
UTSW |
2 |
27,215,082 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2242:Sardh
|
UTSW |
2 |
27,235,515 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R2897:Sardh
|
UTSW |
2 |
27,189,547 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4332:Sardh
|
UTSW |
2 |
27,215,114 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4807:Sardh
|
UTSW |
2 |
27,189,527 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4841:Sardh
|
UTSW |
2 |
27,191,955 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4842:Sardh
|
UTSW |
2 |
27,191,955 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4856:Sardh
|
UTSW |
2 |
27,244,477 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4936:Sardh
|
UTSW |
2 |
27,228,241 (GRCm38) |
splice site |
probably null |
|
|
R5089:Sardh
|
UTSW |
2 |
27,239,613 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5110:Sardh
|
UTSW |
2 |
27,189,547 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5257:Sardh
|
UTSW |
2 |
27,244,259 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5406:Sardh
|
UTSW |
2 |
27,211,084 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R5450:Sardh
|
UTSW |
2 |
27,239,698 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R5594:Sardh
|
UTSW |
2 |
27,220,723 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5870:Sardh
|
UTSW |
2 |
27,220,641 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6014:Sardh
|
UTSW |
2 |
27,197,528 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6021:Sardh
|
UTSW |
2 |
27,189,643 (GRCm38) |
missense |
probably benign |
0.44 |
|
R6470:Sardh
|
UTSW |
2 |
27,244,372 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6577:Sardh
|
UTSW |
2 |
27,218,855 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6750:Sardh
|
UTSW |
2 |
27,228,257 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7035:Sardh
|
UTSW |
2 |
27,230,842 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7162:Sardh
|
UTSW |
2 |
27,197,690 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7256:Sardh
|
UTSW |
2 |
27,218,812 (GRCm38) |
missense |
probably benign |
|
|
R7692:Sardh
|
UTSW |
2 |
27,197,639 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7709:Sardh
|
UTSW |
2 |
27,241,517 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R7884:Sardh
|
UTSW |
2 |
27,239,371 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8028:Sardh
|
UTSW |
2 |
27,230,455 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8095:Sardh
|
UTSW |
2 |
27,242,718 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8120:Sardh
|
UTSW |
2 |
27,218,851 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R8302:Sardh
|
UTSW |
2 |
27,215,110 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8323:Sardh
|
UTSW |
2 |
27,235,564 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8535:Sardh
|
UTSW |
2 |
27,239,645 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8704:Sardh
|
UTSW |
2 |
27,230,465 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R8781:Sardh
|
UTSW |
2 |
27,196,703 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8858:Sardh
|
UTSW |
2 |
27,228,290 (GRCm38) |
missense |
probably null |
1.00 |
|
R9265:Sardh
|
UTSW |
2 |
27,215,053 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9337:Sardh
|
UTSW |
2 |
27,196,666 (GRCm38) |
missense |
probably benign |
0.11 |
|
R9342:Sardh
|
UTSW |
2 |
27,230,857 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9539:Sardh
|
UTSW |
2 |
27,244,286 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9600:Sardh
|
UTSW |
2 |
27,230,501 (GRCm38) |
missense |
probably benign |
|
|
R9714:Sardh
|
UTSW |
2 |
27,189,629 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
X0011:Sardh
|
UTSW |
2 |
27,242,746 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Sardh
|
UTSW |
2 |
27,218,890 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
Z1176:Sardh
|
UTSW |
2 |
27,218,834 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
Z1176:Sardh
|
UTSW |
2 |
27,196,673 (GRCm38) |
missense |
probably benign |
0.08 |
|
Z1177:Sardh
|
UTSW |
2 |
27,235,513 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation