Incidental Mutation 'R5870:Sardh'
ID |
455097 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sardh
|
Ensembl Gene |
ENSMUSG00000009614 |
Gene Name |
sarcosine dehydrogenase |
Synonyms |
|
MMRRC Submission |
044078-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.109)
|
Stock # |
R5870 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
27078405-27138344 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 27110653 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 null
Transcript: ENSMUST00000102886
|
SMART Domains |
Protein: ENSMUSP00000099950 Gene: ENSMUSG00000009614
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: ENSMUST00000144448
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170435
|
Meta Mutation Damage Score |
0.9479 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.1%
|
Validation Efficiency |
93% (84/90) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy9 |
A |
G |
16: 4,236,232 (GRCm39) |
V156A |
probably damaging |
Het |
Ak6 |
C |
A |
13: 100,791,932 (GRCm39) |
P125Q |
probably damaging |
Het |
Aqp4 |
A |
C |
18: 15,532,946 (GRCm39) |
V49G |
probably damaging |
Het |
Arfgef1 |
A |
G |
1: 10,251,163 (GRCm39) |
I874T |
probably damaging |
Het |
Arid1a |
T |
C |
4: 133,408,387 (GRCm39) |
D2040G |
unknown |
Het |
Atp1a3 |
T |
G |
7: 24,697,003 (GRCm39) |
D220A |
probably benign |
Het |
C2cd4c |
A |
T |
10: 79,448,043 (GRCm39) |
I368N |
possibly damaging |
Het |
Ccnt1 |
G |
A |
15: 98,441,394 (GRCm39) |
Q625* |
probably null |
Het |
Cd177 |
T |
A |
7: 24,455,757 (GRCm39) |
H255L |
probably benign |
Het |
Cdipt |
G |
A |
7: 126,578,094 (GRCm39) |
V114M |
probably benign |
Het |
Coro1b |
T |
A |
19: 4,199,384 (GRCm39) |
H14Q |
probably damaging |
Het |
Ctdp1 |
T |
A |
18: 80,451,901 (GRCm39) |
D158V |
unknown |
Het |
Cts7 |
A |
T |
13: 61,503,545 (GRCm39) |
S140T |
probably damaging |
Het |
Dlgap3 |
T |
A |
4: 127,089,502 (GRCm39) |
L366* |
probably null |
Het |
Dnah9 |
C |
T |
11: 65,976,036 (GRCm39) |
A1338T |
probably benign |
Het |
Dock7 |
T |
C |
4: 98,952,199 (GRCm39) |
I424V |
probably benign |
Het |
Dock8 |
G |
T |
19: 25,109,490 (GRCm39) |
A891S |
probably benign |
Het |
Dync2i1 |
A |
G |
12: 116,219,865 (GRCm39) |
S26P |
possibly damaging |
Het |
Elmod3 |
A |
G |
6: 72,571,721 (GRCm39) |
|
probably null |
Het |
Eps15 |
G |
A |
4: 109,218,507 (GRCm39) |
E107K |
probably damaging |
Het |
Esco1 |
A |
T |
18: 10,593,744 (GRCm39) |
|
probably null |
Het |
Fuz |
A |
G |
7: 44,549,742 (GRCm39) |
T407A |
probably damaging |
Het |
Galr1 |
A |
T |
18: 82,424,197 (GRCm39) |
F27I |
probably benign |
Het |
Glt1d1 |
A |
G |
5: 127,754,344 (GRCm39) |
Y182C |
probably damaging |
Het |
Gm37240 |
A |
T |
3: 84,597,828 (GRCm39) |
|
probably benign |
Het |
Gm37610 |
A |
G |
6: 41,061,848 (GRCm39) |
|
noncoding transcript |
Het |
Gm6658 |
G |
T |
8: 91,635,020 (GRCm39) |
|
probably benign |
Het |
Gm9376 |
A |
G |
14: 118,504,789 (GRCm39) |
T74A |
possibly damaging |
Het |
Hadha |
G |
A |
5: 30,349,284 (GRCm39) |
S109F |
possibly damaging |
Het |
Herc3 |
A |
T |
6: 58,893,435 (GRCm39) |
Q899L |
probably benign |
Het |
Ift172 |
C |
T |
5: 31,434,284 (GRCm39) |
E485K |
probably benign |
Het |
Lrrc8e |
A |
G |
8: 4,285,725 (GRCm39) |
K650R |
possibly damaging |
Het |
Ly6d |
A |
T |
15: 74,635,381 (GRCm39) |
V10D |
possibly damaging |
Het |
Med27 |
A |
G |
2: 29,279,823 (GRCm39) |
|
probably null |
Het |
Med29 |
A |
T |
7: 28,091,922 (GRCm39) |
V56E |
probably damaging |
Het |
Mobp |
A |
G |
9: 119,996,919 (GRCm39) |
K17E |
probably damaging |
Het |
Mrpl37 |
G |
A |
4: 106,923,919 (GRCm39) |
T25I |
probably benign |
Het |
Myh1 |
A |
G |
11: 67,092,805 (GRCm39) |
D33G |
possibly damaging |
Het |
Nrg3 |
T |
A |
14: 39,194,586 (GRCm39) |
I58F |
possibly damaging |
Het |
Or52e2 |
A |
G |
7: 102,804,948 (GRCm39) |
I2T |
probably benign |
Het |
Or7e176 |
A |
G |
9: 20,171,874 (GRCm39) |
D246G |
probably benign |
Het |
Padi1 |
T |
A |
4: 140,553,892 (GRCm39) |
D359V |
probably benign |
Het |
Pcdh7 |
T |
C |
5: 57,877,753 (GRCm39) |
V436A |
possibly damaging |
Het |
Pgm3 |
C |
A |
9: 86,452,414 (GRCm39) |
K15N |
probably damaging |
Het |
Phip |
A |
T |
9: 82,790,730 (GRCm39) |
|
probably benign |
Het |
Pot1a |
G |
A |
6: 25,778,950 (GRCm39) |
T48I |
possibly damaging |
Het |
Ppic |
T |
C |
18: 53,542,333 (GRCm39) |
K125R |
probably benign |
Het |
Ppm1j |
T |
C |
3: 104,692,811 (GRCm39) |
V440A |
possibly damaging |
Het |
Prg4 |
T |
A |
1: 150,331,300 (GRCm39) |
K458* |
probably null |
Het |
Rd3 |
A |
T |
1: 191,717,261 (GRCm39) |
M244L |
probably benign |
Het |
Rflnb |
A |
G |
11: 75,912,864 (GRCm39) |
Y175H |
probably benign |
Het |
Rnf157 |
T |
A |
11: 116,237,900 (GRCm39) |
S574C |
probably benign |
Het |
Senp3 |
C |
T |
11: 69,569,048 (GRCm39) |
|
probably null |
Het |
Siglec1 |
G |
A |
2: 130,914,767 (GRCm39) |
R1450C |
probably damaging |
Het |
Sim2 |
A |
G |
16: 93,924,193 (GRCm39) |
H446R |
probably damaging |
Het |
Spon1 |
T |
C |
7: 113,631,021 (GRCm39) |
I444T |
probably damaging |
Het |
Srebf1 |
T |
A |
11: 60,094,410 (GRCm39) |
Q568H |
possibly damaging |
Het |
Stxbp4 |
A |
T |
11: 90,428,782 (GRCm39) |
I441N |
possibly damaging |
Het |
Sugt1 |
G |
A |
14: 79,846,451 (GRCm39) |
V163I |
probably benign |
Het |
Surf1 |
G |
T |
2: 26,806,271 (GRCm39) |
|
probably benign |
Het |
Synj2 |
A |
G |
17: 6,088,128 (GRCm39) |
E1348G |
probably benign |
Het |
Tc2n |
A |
T |
12: 101,619,111 (GRCm39) |
V349D |
probably damaging |
Het |
Ten1 |
A |
G |
11: 116,105,751 (GRCm39) |
R112G |
possibly damaging |
Het |
Tm9sf4 |
A |
G |
2: 153,036,201 (GRCm39) |
D321G |
probably damaging |
Het |
Ttll12 |
A |
T |
15: 83,461,237 (GRCm39) |
M594K |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,703,058 (GRCm39) |
|
probably benign |
Het |
Usp28 |
C |
T |
9: 48,937,285 (GRCm39) |
Q185* |
probably null |
Het |
Vmn2r112 |
A |
G |
17: 22,838,004 (GRCm39) |
I822V |
probably benign |
Het |
Zc3hc1 |
A |
T |
6: 30,382,682 (GRCm39) |
L88* |
probably null |
Het |
Zfr |
T |
A |
15: 12,160,701 (GRCm39) |
V758D |
probably damaging |
Het |
Zfyve27 |
T |
G |
19: 42,160,110 (GRCm39) |
L42R |
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 |
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 |
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'- ATCTCCAAGTACTTGTGGCCC -3'
(R):5'- GCAGATGTGTCAGGAAAGGTCC -3'
Sequencing Primer
(F):5'- TCCCTTCTGTGAGCAAAAGG -3'
(R):5'- TGTCCTCAGGGGCAGAATC -3'
|
Posted On |
2017-02-10 |