Incidental Mutation 'R5110:Sardh'
| ID |
393784 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sardh
|
| Ensembl Gene |
ENSMUSG00000009614 |
| Gene Name |
sarcosine dehydrogenase |
| Synonyms |
|
| MMRRC Submission |
042698-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R5110 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
27078405-27138344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27079559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 911
(D911G)
|
| 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: D911G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: D911G
| 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: ENSMUST00000142136
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156434
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170435
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
| Validation Efficiency |
100% (61/61) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
C |
A |
9: 124,057,987 (GRCm39) |
|
probably null |
Het |
| 2310016G11Rik |
G |
A |
7: 44,327,286 (GRCm39) |
|
noncoding transcript |
Het |
| Abi2 |
G |
A |
1: 60,489,280 (GRCm39) |
V98I |
probably benign |
Het |
| Adam21 |
T |
C |
12: 81,606,989 (GRCm39) |
T258A |
probably benign |
Het |
| Adam33 |
A |
T |
2: 130,895,690 (GRCm39) |
C542S |
probably damaging |
Het |
| Adamts15 |
A |
G |
9: 30,832,740 (GRCm39) |
V265A |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,992,123 (GRCm39) |
D4469V |
probably damaging |
Het |
| Aicda |
A |
G |
6: 122,538,144 (GRCm39) |
N101D |
probably benign |
Het |
| Als2 |
A |
T |
1: 59,224,600 (GRCm39) |
D1040E |
probably damaging |
Het |
| Car15 |
T |
C |
16: 17,653,211 (GRCm39) |
R319G |
possibly damaging |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Col1a1 |
T |
C |
11: 94,832,419 (GRCm39) |
|
probably null |
Het |
| Col25a1 |
A |
G |
3: 130,378,374 (GRCm39) |
*594W |
probably null |
Het |
| Cwf19l2 |
A |
G |
9: 3,450,012 (GRCm39) |
|
probably null |
Het |
| Dctn4 |
C |
T |
18: 60,679,387 (GRCm39) |
P236S |
probably damaging |
Het |
| Dennd2b |
A |
G |
7: 109,141,697 (GRCm39) |
S556P |
probably benign |
Het |
| Ehmt1 |
C |
A |
2: 24,742,802 (GRCm39) |
C459F |
probably benign |
Het |
| Enox1 |
T |
C |
14: 77,945,127 (GRCm39) |
|
probably null |
Het |
| Fam136b-ps |
A |
G |
15: 31,276,856 (GRCm39) |
|
probably benign |
Het |
| Fzd1 |
T |
C |
5: 4,806,448 (GRCm39) |
D378G |
probably benign |
Het |
| Golga5 |
G |
A |
12: 102,438,336 (GRCm39) |
R17Q |
probably benign |
Het |
| Hk1 |
A |
T |
10: 62,122,430 (GRCm39) |
Y422N |
probably damaging |
Het |
| Hsf4 |
A |
G |
8: 105,999,427 (GRCm39) |
D255G |
probably benign |
Het |
| Ift81 |
A |
G |
5: 122,689,121 (GRCm39) |
V665A |
probably benign |
Het |
| Igkv13-84 |
T |
C |
6: 68,916,592 (GRCm39) |
F3L |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 192,020,055 (GRCm39) |
S433R |
possibly damaging |
Het |
| Ktn1 |
A |
G |
14: 47,941,744 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
A |
T |
2: 91,327,417 (GRCm39) |
D1471V |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,261,801 (GRCm39) |
D6990E |
probably damaging |
Het |
| Map3k6 |
G |
A |
4: 132,974,859 (GRCm39) |
|
probably benign |
Het |
| Miox |
T |
A |
15: 89,219,759 (GRCm39) |
D82E |
probably benign |
Het |
| Or4n5 |
T |
G |
14: 50,133,032 (GRCm39) |
I76L |
possibly damaging |
Het |
| Ovgp1 |
G |
C |
3: 105,885,099 (GRCm39) |
R133P |
probably damaging |
Het |
| Per2 |
G |
A |
1: 91,357,237 (GRCm39) |
T642I |
possibly damaging |
Het |
| Pparg |
T |
C |
6: 115,449,964 (GRCm39) |
V321A |
probably damaging |
Het |
| Pptc7 |
T |
A |
5: 122,446,312 (GRCm39) |
N17K |
probably benign |
Het |
| Prpf19 |
T |
C |
19: 10,876,651 (GRCm39) |
|
probably benign |
Het |
| Rai14 |
T |
C |
15: 10,690,496 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
T |
A |
7: 109,963,864 (GRCm39) |
T994S |
probably benign |
Het |
| Slc1a1 |
G |
A |
19: 28,889,208 (GRCm39) |
E494K |
probably benign |
Het |
| Smarcc1 |
A |
G |
9: 110,026,852 (GRCm39) |
K771E |
possibly damaging |
Het |
| Stim1 |
T |
C |
7: 101,917,629 (GRCm39) |
V3A |
unknown |
Het |
| Syne3 |
G |
A |
12: 104,909,629 (GRCm39) |
R736C |
probably benign |
Het |
| Synj2 |
T |
C |
17: 6,087,990 (GRCm39) |
V986A |
probably benign |
Het |
| Tinag |
A |
G |
9: 76,859,289 (GRCm39) |
S440P |
probably damaging |
Het |
| Tshz2 |
A |
G |
2: 169,726,117 (GRCm39) |
T238A |
possibly damaging |
Het |
| Ttc8 |
T |
C |
12: 98,908,562 (GRCm39) |
M17T |
probably benign |
Het |
| Tubgcp5 |
G |
A |
7: 55,458,385 (GRCm39) |
R432Q |
probably damaging |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,974 (GRCm39) |
|
probably null |
Het |
| Usp4 |
T |
A |
9: 108,239,877 (GRCm39) |
I202N |
probably damaging |
Het |
| Vmn1r194 |
T |
G |
13: 22,429,170 (GRCm39) |
S262R |
probably benign |
Het |
| Vmn2r101 |
T |
C |
17: 19,831,897 (GRCm39) |
F631S |
possibly damaging |
Het |
| Vps13b |
T |
A |
15: 35,770,955 (GRCm39) |
S2133T |
probably damaging |
Het |
| Zfp13 |
C |
A |
17: 23,799,834 (GRCm39) |
V77F |
probably benign |
Het |
| Zscan10 |
T |
A |
17: 23,828,606 (GRCm39) |
C306S |
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 |
|
IGL02167:Sardh
|
APN |
2 |
27,081,987 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCAAGACCACATGGAGGC -3'
(R):5'- TGTCTCAGAGAAGGCCTTGGTG -3'
Sequencing Primer
(F):5'- CCACATGGAGGCTAAGGGTG -3'
(R):5'- AAGGCCTTGGTGCGGGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation