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: 0.109)
|
Stock # |
IGL02167
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
27078405-27138344 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 27081987 bp (GRCm39)
|
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: 23,122,721 (GRCm39) |
|
probably benign |
Het |
Cacna1f |
T |
C |
X: 7,482,258 (GRCm39) |
Y581H |
probably damaging |
Het |
Camsap1 |
C |
T |
2: 25,824,312 (GRCm39) |
R1416H |
probably damaging |
Het |
Ccdc117 |
T |
C |
11: 5,481,333 (GRCm39) |
E266G |
possibly damaging |
Het |
Ccdc9 |
A |
T |
7: 16,018,284 (GRCm39) |
L8* |
probably null |
Het |
Cited2 |
T |
C |
10: 17,600,018 (GRCm39) |
S109P |
probably benign |
Het |
Cnot4 |
T |
C |
6: 35,033,159 (GRCm39) |
D286G |
possibly damaging |
Het |
Col5a1 |
T |
C |
2: 27,908,568 (GRCm39) |
I52T |
probably benign |
Het |
Cry2 |
T |
C |
2: 92,264,166 (GRCm39) |
N68S |
possibly damaging |
Het |
Cul4a |
T |
C |
8: 13,172,826 (GRCm39) |
F153S |
probably damaging |
Het |
Ddr1 |
T |
C |
17: 36,000,963 (GRCm39) |
S261G |
possibly damaging |
Het |
Depdc5 |
G |
A |
5: 33,061,145 (GRCm39) |
R324Q |
probably damaging |
Het |
Dmgdh |
A |
G |
13: 93,857,135 (GRCm39) |
|
probably benign |
Het |
Epha8 |
A |
T |
4: 136,658,405 (GRCm39) |
M990K |
probably damaging |
Het |
Gpr137c |
G |
T |
14: 45,517,412 (GRCm39) |
G383C |
probably damaging |
Het |
Hydin |
T |
A |
8: 111,145,055 (GRCm39) |
I802N |
possibly damaging |
Het |
Ifne |
A |
G |
4: 88,798,065 (GRCm39) |
Y118H |
possibly damaging |
Het |
Kansl2 |
T |
C |
15: 98,431,396 (GRCm39) |
|
probably benign |
Het |
Lig4 |
T |
A |
8: 10,021,821 (GRCm39) |
N653I |
probably benign |
Het |
Nagk |
A |
G |
6: 83,778,088 (GRCm39) |
D246G |
probably damaging |
Het |
Nav1 |
A |
G |
1: 135,398,699 (GRCm39) |
S628P |
probably damaging |
Het |
Ncoa3 |
A |
G |
2: 165,912,056 (GRCm39) |
Y1401C |
probably damaging |
Het |
Ndufa9 |
A |
G |
6: 126,821,748 (GRCm39) |
|
probably benign |
Het |
Nynrin |
G |
T |
14: 56,100,792 (GRCm39) |
R194L |
probably damaging |
Het |
Or10a4 |
A |
T |
7: 106,696,868 (GRCm39) |
R65S |
probably benign |
Het |
Or10ag53 |
G |
A |
2: 87,082,542 (GRCm39) |
C87Y |
probably benign |
Het |
Or13a17 |
T |
A |
7: 140,271,664 (GRCm39) |
V282D |
probably damaging |
Het |
Orc2 |
A |
T |
1: 58,522,798 (GRCm39) |
|
probably benign |
Het |
Oxgr1 |
T |
A |
14: 120,259,342 (GRCm39) |
R288S |
probably damaging |
Het |
Pgap6 |
T |
C |
17: 26,338,045 (GRCm39) |
S450P |
probably damaging |
Het |
Prkcg |
T |
C |
7: 3,371,097 (GRCm39) |
|
probably null |
Het |
Prox1 |
T |
C |
1: 189,893,477 (GRCm39) |
N323D |
probably benign |
Het |
Prrt1 |
A |
C |
17: 34,850,829 (GRCm39) |
E215A |
possibly damaging |
Het |
Rab2b |
T |
C |
14: 52,506,153 (GRCm39) |
D103G |
probably damaging |
Het |
Slc38a8 |
T |
A |
8: 120,214,099 (GRCm39) |
T248S |
probably benign |
Het |
Slc6a18 |
T |
C |
13: 73,814,591 (GRCm39) |
|
probably null |
Het |
Smcp |
T |
C |
3: 92,491,506 (GRCm39) |
T114A |
unknown |
Het |
Trpv1 |
A |
G |
11: 73,145,623 (GRCm39) |
N754D |
probably damaging |
Het |
Txnrd1 |
A |
T |
10: 82,717,745 (GRCm39) |
H243L |
probably benign |
Het |
Wdfy3 |
T |
C |
5: 102,109,023 (GRCm39) |
M125V |
probably damaging |
Het |
Wnk2 |
T |
C |
13: 49,224,601 (GRCm39) |
|
probably null |
Het |
Wrn |
T |
C |
8: 33,807,583 (GRCm39) |
M292V |
probably damaging |
Het |
Zbtb17 |
T |
C |
4: 141,189,140 (GRCm39) |
L20P |
possibly damaging |
Het |
Zfp608 |
T |
C |
18: 55,121,296 (GRCm39) |
H97R |
probably damaging |
Het |
Zfp68 |
T |
A |
5: 138,604,629 (GRCm39) |
M565L |
probably benign |
Het |
Zfp687 |
T |
C |
3: 94,917,841 (GRCm39) |
T644A |
probably benign |
Het |
Zfp777 |
C |
T |
6: 48,021,460 (GRCm39) |
G54D |
probably damaging |
Het |
|
Other mutations in Sardh |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01110:Sardh
|
APN |
2 |
27,105,125 (GRCm39) |
missense |
probably benign |
0.07 |
IGL01686:Sardh
|
APN |
2 |
27,079,625 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01868:Sardh
|
APN |
2 |
27,117,159 (GRCm39) |
missense |
probably benign |
0.35 |
IGL02272:Sardh
|
APN |
2 |
27,115,003 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02870:Sardh
|
APN |
2 |
27,125,503 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03117:Sardh
|
APN |
2 |
27,129,458 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4305001:Sardh
|
UTSW |
2 |
27,118,326 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4791001:Sardh
|
UTSW |
2 |
27,087,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R0265:Sardh
|
UTSW |
2 |
27,117,078 (GRCm39) |
splice site |
probably benign |
|
R0781:Sardh
|
UTSW |
2 |
27,081,931 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1110:Sardh
|
UTSW |
2 |
27,081,931 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1242:Sardh
|
UTSW |
2 |
27,125,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R1404:Sardh
|
UTSW |
2 |
27,129,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R1404:Sardh
|
UTSW |
2 |
27,129,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R1514:Sardh
|
UTSW |
2 |
27,087,702 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1565:Sardh
|
UTSW |
2 |
27,132,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R1832:Sardh
|
UTSW |
2 |
27,125,581 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1836:Sardh
|
UTSW |
2 |
27,105,194 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1997:Sardh
|
UTSW |
2 |
27,134,409 (GRCm39) |
missense |
probably damaging |
0.97 |
R2006:Sardh
|
UTSW |
2 |
27,118,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R2046:Sardh
|
UTSW |
2 |
27,105,094 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2242:Sardh
|
UTSW |
2 |
27,125,527 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2897:Sardh
|
UTSW |
2 |
27,079,559 (GRCm39) |
missense |
probably benign |
0.00 |
R4332:Sardh
|
UTSW |
2 |
27,105,126 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4807:Sardh
|
UTSW |
2 |
27,079,539 (GRCm39) |
missense |
probably benign |
0.00 |
R4841:Sardh
|
UTSW |
2 |
27,081,967 (GRCm39) |
missense |
probably benign |
0.09 |
R4842:Sardh
|
UTSW |
2 |
27,081,967 (GRCm39) |
missense |
probably benign |
0.09 |
R4856:Sardh
|
UTSW |
2 |
27,134,489 (GRCm39) |
missense |
probably benign |
0.02 |
R4936:Sardh
|
UTSW |
2 |
27,118,253 (GRCm39) |
splice site |
probably null |
|
R5089:Sardh
|
UTSW |
2 |
27,129,625 (GRCm39) |
critical splice donor site |
probably null |
|
R5110:Sardh
|
UTSW |
2 |
27,079,559 (GRCm39) |
missense |
probably benign |
0.00 |
R5257:Sardh
|
UTSW |
2 |
27,134,271 (GRCm39) |
missense |
probably damaging |
0.98 |
R5406:Sardh
|
UTSW |
2 |
27,101,096 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5450:Sardh
|
UTSW |
2 |
27,129,710 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5594:Sardh
|
UTSW |
2 |
27,110,735 (GRCm39) |
missense |
probably damaging |
1.00 |
R5870:Sardh
|
UTSW |
2 |
27,110,653 (GRCm39) |
critical splice donor site |
probably null |
|
R6014:Sardh
|
UTSW |
2 |
27,087,540 (GRCm39) |
critical splice donor site |
probably null |
|
R6021:Sardh
|
UTSW |
2 |
27,079,655 (GRCm39) |
missense |
probably benign |
0.44 |
R6470:Sardh
|
UTSW |
2 |
27,134,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R6577:Sardh
|
UTSW |
2 |
27,108,867 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6750:Sardh
|
UTSW |
2 |
27,118,269 (GRCm39) |
missense |
probably benign |
0.04 |
R7035:Sardh
|
UTSW |
2 |
27,120,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R7162:Sardh
|
UTSW |
2 |
27,087,702 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7256:Sardh
|
UTSW |
2 |
27,108,824 (GRCm39) |
missense |
probably benign |
|
R7692:Sardh
|
UTSW |
2 |
27,087,651 (GRCm39) |
missense |
probably benign |
0.01 |
R7709:Sardh
|
UTSW |
2 |
27,131,529 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7884:Sardh
|
UTSW |
2 |
27,129,383 (GRCm39) |
missense |
probably damaging |
0.99 |
R8028:Sardh
|
UTSW |
2 |
27,120,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R8095:Sardh
|
UTSW |
2 |
27,132,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R8120:Sardh
|
UTSW |
2 |
27,108,863 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8302:Sardh
|
UTSW |
2 |
27,105,122 (GRCm39) |
missense |
probably benign |
0.03 |
R8323:Sardh
|
UTSW |
2 |
27,125,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R8535:Sardh
|
UTSW |
2 |
27,129,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R8704:Sardh
|
UTSW |
2 |
27,120,477 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8781:Sardh
|
UTSW |
2 |
27,086,715 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8858:Sardh
|
UTSW |
2 |
27,118,302 (GRCm39) |
missense |
probably null |
1.00 |
R9265:Sardh
|
UTSW |
2 |
27,105,065 (GRCm39) |
missense |
probably damaging |
0.99 |
R9337:Sardh
|
UTSW |
2 |
27,086,678 (GRCm39) |
missense |
probably benign |
0.11 |
R9342:Sardh
|
UTSW |
2 |
27,120,869 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9539:Sardh
|
UTSW |
2 |
27,134,298 (GRCm39) |
missense |
probably damaging |
0.99 |
R9600:Sardh
|
UTSW |
2 |
27,120,513 (GRCm39) |
missense |
probably benign |
|
R9714:Sardh
|
UTSW |
2 |
27,079,641 (GRCm39) |
missense |
possibly damaging |
0.64 |
X0011:Sardh
|
UTSW |
2 |
27,132,758 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Sardh
|
UTSW |
2 |
27,108,902 (GRCm39) |
missense |
possibly damaging |
0.52 |
Z1176:Sardh
|
UTSW |
2 |
27,108,846 (GRCm39) |
missense |
possibly damaging |
0.88 |
Z1176:Sardh
|
UTSW |
2 |
27,086,685 (GRCm39) |
missense |
probably benign |
0.08 |
Z1177:Sardh
|
UTSW |
2 |
27,125,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |