Incidental Mutation 'R7709:Sardh'
| ID |
594432 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sardh
|
| Ensembl Gene |
ENSMUSG00000009614 |
| Gene Name |
sarcosine dehydrogenase |
| Synonyms |
|
| MMRRC Submission |
045768-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R7709 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
27078405-27138344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27131529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 188
(T188S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102886]
[ENSMUST00000129975]
[ENSMUST00000139312]
[ENSMUST00000149733]
|
| AlphaFold |
Q99LB7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102886
AA Change: T188S
PolyPhen 2
Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: T188S
| 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 |
probably benign
Transcript: ENSMUST00000129975
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000139312
AA Change: T188S
PolyPhen 2
Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000119866
Gene: ENSMUSG00000009614
AA Change: T188S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAO
|
69 |
197 |
9.3e-29 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149733
AA Change: T188S
PolyPhen 2
Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000120478
Gene: ENSMUSG00000009614
AA Change: T188S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAO
|
69 |
203 |
9.7e-30 |
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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
G |
3: 124,201,334 (GRCm39) |
I443T |
probably damaging |
Het |
| 2310002L09Rik |
A |
G |
4: 73,861,091 (GRCm39) |
C170R |
possibly damaging |
Het |
| 4933415A04Rik |
GTGTGTGTGTATGTGTGTGT |
GTGTGTGTGT |
11: 43,478,237 (GRCm39) |
|
probably null |
Het |
| A2m |
A |
C |
6: 121,637,063 (GRCm39) |
T809P |
possibly damaging |
Het |
| Abca12 |
T |
C |
1: 71,374,887 (GRCm39) |
D340G |
probably benign |
Het |
| Abcg8 |
A |
T |
17: 84,999,919 (GRCm39) |
D191V |
probably damaging |
Het |
| Acan |
G |
T |
7: 78,739,356 (GRCm39) |
V255F |
probably damaging |
Het |
| Ace |
G |
A |
11: 105,879,663 (GRCm39) |
V1248I |
probably benign |
Het |
| Adgre1 |
A |
T |
17: 57,709,519 (GRCm39) |
Q87L |
unknown |
Het |
| Adgrl1 |
G |
A |
8: 84,665,617 (GRCm39) |
V1435M |
probably benign |
Het |
| Ano8 |
T |
C |
8: 71,934,933 (GRCm39) |
D423G |
probably damaging |
Het |
| Aox3 |
T |
C |
1: 58,219,810 (GRCm39) |
Y1137H |
probably damaging |
Het |
| Arl5a |
T |
C |
2: 52,295,068 (GRCm39) |
D114G |
probably benign |
Het |
| B3galt9 |
T |
G |
2: 34,728,437 (GRCm39) |
C79G |
probably damaging |
Het |
| Baiap2l2 |
G |
T |
15: 79,143,911 (GRCm39) |
N394K |
probably benign |
Het |
| Cap1 |
A |
T |
4: 122,756,467 (GRCm39) |
C355S |
probably damaging |
Het |
| Ccdc25 |
A |
T |
14: 66,077,933 (GRCm39) |
D22V |
probably damaging |
Het |
| Ceacam2 |
T |
C |
7: 25,238,076 (GRCm39) |
D116G |
probably damaging |
Het |
| Clec4b2 |
A |
G |
6: 123,149,974 (GRCm39) |
|
probably benign |
Het |
| CN725425 |
C |
A |
15: 91,124,930 (GRCm39) |
R157S |
probably benign |
Het |
| Coq8b |
T |
C |
7: 26,949,962 (GRCm39) |
I347T |
probably damaging |
Het |
| Ctbp2 |
C |
A |
7: 132,591,789 (GRCm39) |
V338L |
probably benign |
Het |
| Cyp2d22 |
A |
G |
15: 82,258,612 (GRCm39) |
V83A |
possibly damaging |
Het |
| Daam1 |
G |
A |
12: 72,024,423 (GRCm39) |
R797H |
probably benign |
Het |
| Dab1 |
C |
A |
4: 104,577,756 (GRCm39) |
S275* |
probably null |
Het |
| Dgkz |
T |
C |
2: 91,767,404 (GRCm39) |
E863G |
probably benign |
Het |
| Dhx34 |
G |
A |
7: 15,946,789 (GRCm39) |
A515V |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,530,049 (GRCm39) |
|
probably null |
Het |
| Dnmt3b |
C |
A |
2: 153,514,140 (GRCm39) |
N384K |
probably benign |
Het |
| Dock5 |
A |
G |
14: 68,033,454 (GRCm39) |
Y972H |
probably benign |
Het |
| Etv5 |
A |
T |
16: 22,231,597 (GRCm39) |
Y138* |
probably null |
Het |
| Fdps |
A |
G |
3: 89,008,397 (GRCm39) |
S4P |
probably damaging |
Het |
| Gart |
A |
G |
16: 91,419,853 (GRCm39) |
F885L |
possibly damaging |
Het |
| Gm32687 |
A |
T |
10: 81,715,328 (GRCm39) |
H240L |
probably damaging |
Het |
| Gm4553 |
C |
T |
7: 141,719,384 (GRCm39) |
G15R |
unknown |
Het |
| Gm572 |
C |
T |
4: 148,753,408 (GRCm39) |
T351M |
probably damaging |
Het |
| Gpr3 |
A |
T |
4: 132,937,748 (GRCm39) |
L308Q |
probably damaging |
Het |
| Gpsm2 |
A |
G |
3: 108,609,097 (GRCm39) |
V174A |
probably benign |
Het |
| Gucy1a1 |
T |
C |
3: 82,002,096 (GRCm39) |
H661R |
unknown |
Het |
| Heatr4 |
A |
T |
12: 84,004,499 (GRCm39) |
M774K |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,799,605 (GRCm39) |
I163T |
possibly damaging |
Het |
| Ift81 |
C |
T |
5: 122,747,394 (GRCm39) |
V91M |
probably damaging |
Het |
| Igsf10 |
G |
T |
3: 59,238,964 (GRCm39) |
Q406K |
probably damaging |
Het |
| Il10ra |
A |
G |
9: 45,171,697 (GRCm39) |
V257A |
probably benign |
Het |
| Ina |
A |
T |
19: 47,012,082 (GRCm39) |
K500I |
|
Het |
| Lce1i |
A |
T |
3: 92,685,066 (GRCm39) |
C37S |
unknown |
Het |
| Lrrc59 |
A |
T |
11: 94,525,811 (GRCm39) |
D133V |
probably damaging |
Het |
| Magi3 |
A |
G |
3: 103,941,354 (GRCm39) |
I867T |
probably damaging |
Het |
| Mmaa |
T |
A |
8: 79,995,830 (GRCm39) |
R298W |
probably damaging |
Het |
| Mon1a |
G |
T |
9: 107,777,327 (GRCm39) |
V77F |
probably benign |
Het |
| Mrc2 |
A |
G |
11: 105,237,285 (GRCm39) |
T1030A |
probably benign |
Het |
| Mrps27 |
T |
A |
13: 99,541,504 (GRCm39) |
S162T |
probably benign |
Het |
| Mtmr12 |
T |
A |
15: 12,245,097 (GRCm39) |
M204K |
probably damaging |
Het |
| Mtus1 |
A |
G |
8: 41,507,687 (GRCm39) |
I21T |
possibly damaging |
Het |
| Myh2 |
T |
C |
11: 67,085,690 (GRCm39) |
V1844A |
probably benign |
Het |
| Myh7 |
C |
G |
14: 55,226,258 (GRCm39) |
D461H |
probably damaging |
Het |
| Nbr1 |
T |
G |
11: 101,447,067 (GRCm39) |
F18V |
probably damaging |
Het |
| Npy2r |
T |
C |
3: 82,447,689 (GRCm39) |
N362S |
probably benign |
Het |
| Ocln |
T |
A |
13: 100,676,106 (GRCm39) |
Y129F |
probably damaging |
Het |
| Or2t1 |
T |
C |
14: 14,328,384 (GRCm38) |
I91T |
probably damaging |
Het |
| Or4c10 |
T |
C |
2: 89,760,225 (GRCm39) |
I24T |
probably benign |
Het |
| Or8c20 |
A |
G |
9: 38,260,573 (GRCm39) |
M59V |
probably benign |
Het |
| Pik3c2b |
T |
G |
1: 133,007,579 (GRCm39) |
|
probably null |
Het |
| Prss39 |
A |
G |
1: 34,541,709 (GRCm39) |
D262G |
probably damaging |
Het |
| Ptk7 |
T |
A |
17: 46,882,569 (GRCm39) |
D886V |
possibly damaging |
Het |
| Ptprg |
T |
A |
14: 12,226,452 (GRCm38) |
D1348E |
probably damaging |
Het |
| Rabgap1 |
T |
C |
2: 37,427,339 (GRCm39) |
I640T |
possibly damaging |
Het |
| Rogdi |
A |
G |
16: 4,827,098 (GRCm39) |
Y303H |
probably damaging |
Het |
| Rps6kb1 |
A |
T |
11: 86,404,148 (GRCm39) |
M283K |
probably damaging |
Het |
| Sebox |
A |
G |
11: 78,394,919 (GRCm39) |
E87G |
probably damaging |
Het |
| Smchd1 |
A |
T |
17: 71,665,193 (GRCm39) |
M1830K |
probably damaging |
Het |
| Spata31h1 |
A |
C |
10: 82,126,366 (GRCm39) |
S2215A |
possibly damaging |
Het |
| Spink8 |
G |
A |
9: 109,645,848 (GRCm39) |
V7I |
probably benign |
Het |
| Src |
G |
A |
2: 157,299,164 (GRCm39) |
V54M |
probably benign |
Het |
| Taar2 |
A |
G |
10: 23,816,621 (GRCm39) |
I54V |
probably benign |
Het |
| Tpo |
A |
T |
12: 30,181,859 (GRCm39) |
V12E |
possibly damaging |
Het |
| Txk |
T |
C |
5: 72,864,918 (GRCm39) |
D373G |
probably damaging |
Het |
| Ubr5 |
G |
A |
15: 37,980,076 (GRCm39) |
A2434V |
probably null |
Het |
| Vil1 |
C |
T |
1: 74,465,754 (GRCm39) |
T515M |
probably benign |
Het |
| Wdr47 |
G |
T |
3: 108,525,837 (GRCm39) |
C120F |
probably damaging |
Het |
| Ylpm1 |
C |
T |
12: 85,059,799 (GRCm39) |
P335L |
unknown |
Het |
| Zfp148 |
T |
A |
16: 33,288,545 (GRCm39) |
I220N |
probably damaging |
Het |
| Zfp992 |
A |
T |
4: 146,551,622 (GRCm39) |
K448* |
probably null |
Het |
| Zfp994 |
T |
C |
17: 22,419,406 (GRCm39) |
I514M |
probably benign |
Het |
| Zp2 |
A |
T |
7: 119,734,998 (GRCm39) |
I429N |
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 |
|
|
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 |
|
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'- GGCCAAGGATGAAATCTGTTCTC -3'
(R):5'- CTCTGGGCATAGAGACTTGCTC -3'
Sequencing Primer
(F):5'- CAAGGATGAAATCTGTTCTCTGGCC -3'
(R):5'- CATAGAGACTTGCTCAGGCTTCTAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation