Incidental Mutation 'IGL02272:Sardh'
| ID |
287185 |
| 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 # |
IGL02272
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
27078405-27138344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 27115003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 550
(D550A)
|
| 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 benign
Transcript: ENSMUST00000102886
AA Change: D550A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: D550A
| 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: ENSMUST00000144448
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
T |
A |
17: 57,757,021 (GRCm39) |
C759* |
probably null |
Het |
| Adgrg6 |
T |
A |
10: 14,344,573 (GRCm39) |
M127L |
probably damaging |
Het |
| Anxa9 |
A |
G |
3: 95,213,205 (GRCm39) |
V47A |
probably benign |
Het |
| Arhgef12 |
T |
A |
9: 42,912,748 (GRCm39) |
D483V |
probably damaging |
Het |
| Arrdc3 |
C |
A |
13: 81,039,769 (GRCm39) |
|
probably benign |
Het |
| Ccdc169 |
A |
G |
3: 55,058,169 (GRCm39) |
E67G |
probably damaging |
Het |
| Ccdc191 |
T |
A |
16: 43,780,385 (GRCm39) |
V731D |
possibly damaging |
Het |
| Cdh3 |
G |
T |
8: 107,274,468 (GRCm39) |
|
probably null |
Het |
| Cntnap1 |
G |
A |
11: 101,069,142 (GRCm39) |
V199M |
probably damaging |
Het |
| Cntnap3 |
A |
T |
13: 64,905,225 (GRCm39) |
V852E |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,249,907 (GRCm39) |
S1024T |
probably damaging |
Het |
| Cyp3a25 |
T |
C |
5: 145,930,075 (GRCm39) |
|
probably benign |
Het |
| Dusp6 |
T |
A |
10: 99,101,881 (GRCm39) |
V289D |
probably damaging |
Het |
| Ecpas |
A |
T |
4: 58,811,731 (GRCm39) |
N1439K |
probably benign |
Het |
| Epha6 |
C |
T |
16: 59,639,300 (GRCm39) |
R858Q |
probably damaging |
Het |
| Flrt2 |
T |
A |
12: 95,746,478 (GRCm39) |
F272Y |
probably damaging |
Het |
| Gbf1 |
T |
A |
19: 46,258,242 (GRCm39) |
W846R |
probably damaging |
Het |
| Gtpbp2 |
T |
A |
17: 46,475,707 (GRCm39) |
V152E |
probably benign |
Het |
| Hmces |
A |
G |
6: 87,894,837 (GRCm39) |
|
probably null |
Het |
| Hsph1 |
A |
G |
5: 149,540,995 (GRCm39) |
S852P |
probably benign |
Het |
| Kat6b |
A |
C |
14: 21,676,846 (GRCm39) |
K394Q |
probably damaging |
Het |
| Kdr |
G |
A |
5: 76,122,500 (GRCm39) |
T475I |
probably benign |
Het |
| Klhl25 |
A |
G |
7: 75,516,368 (GRCm39) |
T425A |
probably benign |
Het |
| Klk1b8 |
T |
A |
7: 43,602,217 (GRCm39) |
C50S |
probably damaging |
Het |
| Kri1 |
T |
C |
9: 21,187,464 (GRCm39) |
Y343C |
probably damaging |
Het |
| Lamb1 |
T |
C |
12: 31,355,768 (GRCm39) |
S953P |
probably benign |
Het |
| Lpin1 |
A |
G |
12: 16,597,601 (GRCm39) |
V681A |
probably damaging |
Het |
| Lpin3 |
A |
G |
2: 160,743,581 (GRCm39) |
T508A |
probably benign |
Het |
| Moxd1 |
T |
A |
10: 24,158,598 (GRCm39) |
Y417* |
probably null |
Het |
| Mthfd1l |
T |
G |
10: 3,991,812 (GRCm39) |
I588S |
probably damaging |
Het |
| Myo5c |
C |
A |
9: 75,173,442 (GRCm39) |
N543K |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,791,883 (GRCm39) |
|
probably benign |
Het |
| Nme8 |
T |
C |
13: 19,842,996 (GRCm39) |
Y393C |
probably damaging |
Het |
| Nr2e1 |
T |
G |
10: 42,443,975 (GRCm39) |
N249T |
probably damaging |
Het |
| Pex11g |
A |
G |
8: 3,515,898 (GRCm39) |
V45A |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,279,484 (GRCm39) |
G2945W |
probably damaging |
Het |
| Plxnd1 |
A |
G |
6: 115,970,589 (GRCm39) |
F393S |
probably damaging |
Het |
| Ppp3cc |
A |
G |
14: 70,473,938 (GRCm39) |
V353A |
probably damaging |
Het |
| Prss16 |
T |
A |
13: 22,187,205 (GRCm39) |
Q455L |
probably damaging |
Het |
| Ptpn6 |
A |
T |
6: 124,698,171 (GRCm39) |
V524E |
probably damaging |
Het |
| Rap1gap |
A |
G |
4: 137,443,877 (GRCm39) |
Y163C |
probably damaging |
Het |
| Rnf31 |
C |
T |
14: 55,836,239 (GRCm39) |
L598F |
probably damaging |
Het |
| Serpinc1 |
T |
G |
1: 160,827,562 (GRCm39) |
I387S |
probably damaging |
Het |
| Sh3d19 |
A |
T |
3: 86,028,474 (GRCm39) |
D650V |
probably benign |
Het |
| Sipa1l2 |
T |
A |
8: 126,218,750 (GRCm39) |
T196S |
probably damaging |
Het |
| Slc25a46 |
T |
C |
18: 31,716,621 (GRCm39) |
T294A |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 24,034,756 (GRCm39) |
|
probably benign |
Het |
| Steap2 |
T |
A |
5: 5,727,612 (GRCm39) |
N241I |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,573,594 (GRCm39) |
Y206C |
probably damaging |
Het |
| Tmem259 |
T |
A |
10: 79,814,297 (GRCm39) |
Q322L |
probably damaging |
Het |
| Tnni2 |
C |
A |
7: 141,997,166 (GRCm39) |
Q52K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,565,372 (GRCm39) |
V28285A |
possibly damaging |
Het |
| Uba7 |
T |
A |
9: 107,853,352 (GRCm39) |
S99R |
probably benign |
Het |
| Ubxn2b |
A |
T |
4: 6,216,071 (GRCm39) |
K331N |
probably damaging |
Het |
| Usp50 |
G |
A |
2: 126,611,864 (GRCm39) |
T232I |
probably damaging |
Het |
| Vmn2r116 |
G |
A |
17: 23,604,973 (GRCm39) |
M95I |
probably benign |
Het |
| Vmn2r116 |
T |
A |
17: 23,604,978 (GRCm39) |
L97Q |
probably damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,763,843 (GRCm39) |
N240I |
possibly damaging |
Het |
| Vmn2r72 |
T |
C |
7: 85,399,901 (GRCm39) |
R383G |
probably benign |
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 |
|
IGL02167:Sardh
|
APN |
2 |
27,081,987 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
Incidental Mutation