Incidental Mutation 'R7692:Sardh'
| ID |
593433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sardh
|
| Ensembl Gene |
ENSMUSG00000009614 |
| Gene Name |
sarcosine dehydrogenase |
| Synonyms |
|
| MMRRC Submission |
045756-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R7692 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
27078405-27138344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27087651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 740
(V740A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102886]
|
| AlphaFold |
Q99LB7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102886
AA Change: V740A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: V740A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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 |
|---|
| Adam26b |
G |
A |
8: 43,973,832 (GRCm39) |
T390I |
probably benign |
Het |
| Adgb |
A |
G |
10: 10,287,456 (GRCm39) |
|
probably null |
Het |
| Ado |
G |
T |
10: 67,384,265 (GRCm39) |
Y113* |
probably null |
Het |
| Angptl1 |
A |
G |
1: 156,672,885 (GRCm39) |
E237G |
probably damaging |
Het |
| Arid2 |
T |
A |
15: 96,254,578 (GRCm39) |
Y141* |
probably null |
Het |
| Clvs1 |
T |
C |
4: 9,350,739 (GRCm39) |
I183T |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,014,295 (GRCm39) |
K1817E |
probably benign |
Het |
| Eif3e |
C |
A |
15: 43,126,642 (GRCm39) |
R271L |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,703,085 (GRCm39) |
V1611A |
probably damaging |
Het |
| Enpp3 |
G |
T |
10: 24,660,739 (GRCm39) |
Y634* |
probably null |
Het |
| Evi5l |
C |
T |
8: 4,250,886 (GRCm39) |
R394W |
probably damaging |
Het |
| Fcgr3 |
A |
C |
1: 170,881,661 (GRCm39) |
F156V |
probably damaging |
Het |
| Fmo1 |
T |
A |
1: 162,661,402 (GRCm39) |
T294S |
probably benign |
Het |
| Gabrb3 |
A |
G |
7: 57,466,203 (GRCm39) |
Q339R |
probably damaging |
Het |
| Gen1 |
T |
A |
12: 11,292,167 (GRCm39) |
T606S |
probably benign |
Het |
| Gfod1 |
T |
C |
13: 43,354,528 (GRCm39) |
Q149R |
probably benign |
Het |
| Golm1 |
A |
G |
13: 59,788,071 (GRCm39) |
V276A |
probably benign |
Het |
| Hc |
C |
A |
2: 34,914,161 (GRCm39) |
V849F |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,459,627 (GRCm39) |
I832T |
possibly damaging |
Het |
| Hspa14 |
T |
C |
2: 3,497,643 (GRCm39) |
D283G |
probably damaging |
Het |
| Lztfl1 |
C |
T |
9: 123,541,536 (GRCm39) |
W94* |
probably null |
Het |
| Lzts3 |
T |
C |
2: 130,477,306 (GRCm39) |
S381G |
probably benign |
Het |
| Mgat2 |
A |
G |
12: 69,231,444 (GRCm39) |
Y6C |
probably damaging |
Het |
| Mrpl30 |
T |
C |
1: 37,934,439 (GRCm39) |
I27T |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,406,966 (GRCm39) |
T1045S |
unknown |
Het |
| Nlrp4a |
G |
A |
7: 26,148,690 (GRCm39) |
R99Q |
probably benign |
Het |
| Or10g1 |
T |
C |
14: 52,647,945 (GRCm39) |
Y128C |
probably damaging |
Het |
| Or5b98 |
A |
G |
19: 12,931,006 (GRCm39) |
T18A |
possibly damaging |
Het |
| Phlpp1 |
T |
C |
1: 106,209,132 (GRCm39) |
L495P |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,109,776 (GRCm39) |
D178G |
possibly damaging |
Het |
| Prl5a1 |
C |
G |
13: 28,333,997 (GRCm39) |
L167V |
probably damaging |
Het |
| Sbno1 |
T |
G |
5: 124,543,709 (GRCm39) |
T277P |
probably benign |
Het |
| Slc2a1 |
T |
C |
4: 118,993,462 (GRCm39) |
V433A |
probably damaging |
Het |
| Slc4a10 |
T |
C |
2: 62,134,308 (GRCm39) |
V1008A |
possibly damaging |
Het |
| Smarcal1 |
T |
G |
1: 72,625,179 (GRCm39) |
S109A |
probably benign |
Het |
| Speg |
A |
G |
1: 75,377,834 (GRCm39) |
D864G |
probably benign |
Het |
| Steap4 |
T |
C |
5: 8,026,976 (GRCm39) |
I313T |
probably benign |
Het |
| Tab2 |
A |
T |
10: 7,786,869 (GRCm39) |
D614E |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,544,610 (GRCm39) |
K2246E |
probably damaging |
Het |
| Timm23 |
A |
G |
14: 31,902,520 (GRCm39) |
S208P |
probably damaging |
Het |
| Tmem229a |
C |
A |
6: 24,955,211 (GRCm39) |
C181F |
probably benign |
Het |
| Ugdh |
T |
C |
5: 65,574,958 (GRCm39) |
Y356C |
probably damaging |
Het |
| Ugt2a1 |
A |
G |
5: 87,634,586 (GRCm39) |
L7P |
probably damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,619,905 (GRCm39) |
D272G |
possibly damaging |
Het |
| Vmn1r206 |
T |
A |
13: 22,804,827 (GRCm39) |
I127F |
probably damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,505,490 (GRCm39) |
Y68C |
possibly damaging |
Het |
| Zfand6 |
G |
A |
7: 84,283,141 (GRCm39) |
P72L |
not run |
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 |
|
|
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 |
|
|
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'- TTGAGAAATTGCACAAGGCTGG -3'
(R):5'- AGCTCAGCTTCTGTGAACACTC -3'
Sequencing Primer
(F):5'- TCTAAACACCAGTGACAGGAGTG -3'
(R):5'- TTCTGTGAACACTCCTCAGAAAGTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation