Incidental Mutation 'R1832:Sardh'
| ID |
204837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sardh
|
| Ensembl Gene |
ENSMUSG00000009614 |
| Gene Name |
sarcosine dehydrogenase |
| Synonyms |
|
| MMRRC Submission |
039859-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R1832 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
27078405-27138344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27125581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 311
(V311A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102886]
|
| AlphaFold |
Q99LB7 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000091224
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102886
AA Change: V311A
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: V311A
| 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: ENSMUST00000170435
|
| Meta Mutation Damage Score |
0.3567 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.6%
- 20x: 90.7%
|
| Validation Efficiency |
100% (82/82) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
A |
3: 124,350,509 (GRCm39) |
D143V |
unknown |
Het |
| Abca8a |
A |
T |
11: 109,962,277 (GRCm39) |
N525K |
probably damaging |
Het |
| Abhd12 |
T |
A |
2: 150,690,338 (GRCm39) |
D119V |
probably damaging |
Het |
| Adamts20 |
A |
T |
15: 94,184,225 (GRCm39) |
M1526K |
probably benign |
Het |
| Ankdd1a |
A |
T |
9: 65,411,771 (GRCm39) |
|
probably null |
Het |
| Ankrd1 |
C |
T |
19: 36,092,378 (GRCm39) |
C283Y |
possibly damaging |
Het |
| Arfgef1 |
G |
C |
1: 10,275,115 (GRCm39) |
I312M |
probably benign |
Het |
| Bhlhe22 |
G |
A |
3: 18,109,139 (GRCm39) |
C63Y |
probably damaging |
Het |
| Bmp8a |
A |
T |
4: 123,218,885 (GRCm39) |
|
probably benign |
Het |
| Ccdc148 |
A |
T |
2: 58,891,911 (GRCm39) |
S235T |
probably damaging |
Het |
| Ccdc88b |
G |
A |
19: 6,830,900 (GRCm39) |
Q681* |
probably null |
Het |
| Cep104 |
T |
A |
4: 154,087,003 (GRCm39) |
V842E |
probably benign |
Het |
| Chac2 |
T |
C |
11: 30,927,568 (GRCm39) |
N117S |
probably benign |
Het |
| Cimap3 |
C |
T |
3: 105,921,912 (GRCm39) |
E4K |
possibly damaging |
Het |
| Cldn8 |
T |
A |
16: 88,359,746 (GRCm39) |
I60F |
probably benign |
Het |
| Col16a1 |
G |
A |
4: 129,970,850 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
A |
G |
8: 11,264,644 (GRCm39) |
|
probably benign |
Het |
| Cyp2a4 |
G |
T |
7: 26,011,635 (GRCm39) |
E285D |
probably damaging |
Het |
| Cyp4a31 |
G |
A |
4: 115,426,928 (GRCm39) |
G176D |
probably benign |
Het |
| Dmxl2 |
A |
C |
9: 54,368,233 (GRCm39) |
Y246D |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,580,493 (GRCm39) |
K118R |
probably damaging |
Het |
| Dync2i1 |
T |
A |
12: 116,171,363 (GRCm39) |
S958C |
probably damaging |
Het |
| Eif3h |
T |
C |
15: 51,728,832 (GRCm39) |
T8A |
possibly damaging |
Het |
| Fbh1 |
G |
T |
2: 11,772,211 (GRCm39) |
L157I |
probably benign |
Het |
| Fbxo40 |
C |
A |
16: 36,789,218 (GRCm39) |
G631* |
probably null |
Het |
| Gabrb1 |
T |
A |
5: 72,279,281 (GRCm39) |
|
probably null |
Het |
| Galc |
A |
G |
12: 98,200,499 (GRCm39) |
|
probably null |
Het |
| Garin2 |
G |
A |
12: 78,762,280 (GRCm39) |
|
probably benign |
Het |
| H2-Q7 |
C |
A |
17: 35,658,675 (GRCm39) |
S104R |
probably benign |
Het |
| Igkv13-54-1 |
A |
T |
6: 69,594,277 (GRCm39) |
M31L |
probably benign |
Het |
| Lamc2 |
C |
T |
1: 153,041,933 (GRCm39) |
R67Q |
possibly damaging |
Het |
| Lcn10 |
A |
G |
2: 25,575,151 (GRCm39) |
D173G |
probably damaging |
Het |
| Llgl2 |
G |
T |
11: 115,741,926 (GRCm39) |
R656L |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Lrrc66 |
G |
A |
5: 73,764,769 (GRCm39) |
S758L |
possibly damaging |
Het |
| Ly6d |
T |
C |
15: 74,634,615 (GRCm39) |
K46E |
probably damaging |
Het |
| Map3k5 |
A |
G |
10: 19,975,306 (GRCm39) |
N88D |
probably damaging |
Het |
| Mertk |
A |
T |
2: 128,604,132 (GRCm39) |
E422V |
probably benign |
Het |
| Mixl1 |
A |
G |
1: 180,522,296 (GRCm39) |
V195A |
probably benign |
Het |
| Nmnat3 |
T |
C |
9: 98,281,521 (GRCm39) |
V41A |
probably damaging |
Het |
| Or1r1 |
A |
T |
11: 73,875,319 (GRCm39) |
N38K |
probably damaging |
Het |
| Or2a7 |
A |
G |
6: 43,151,834 (GRCm39) |
R305G |
probably benign |
Het |
| Or7g34 |
A |
G |
9: 19,478,492 (GRCm39) |
Y63H |
possibly damaging |
Het |
| Pappa2 |
T |
A |
1: 158,684,886 (GRCm39) |
E751V |
probably damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,635,189 (GRCm39) |
S355G |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,390,134 (GRCm39) |
V821A |
probably damaging |
Het |
| Plxna4 |
A |
C |
6: 32,174,761 (GRCm39) |
D1109E |
probably benign |
Het |
| Ppard |
A |
G |
17: 28,516,084 (GRCm39) |
M103V |
probably benign |
Het |
| Pramel51 |
T |
C |
12: 88,145,218 (GRCm39) |
E44G |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,804,752 (GRCm39) |
T515A |
probably benign |
Het |
| Rin2 |
A |
G |
2: 145,703,091 (GRCm39) |
I596V |
possibly damaging |
Het |
| Rnls |
A |
G |
19: 33,145,895 (GRCm39) |
S75P |
possibly damaging |
Het |
| Rsph10b |
A |
T |
5: 143,903,997 (GRCm39) |
Y236F |
possibly damaging |
Het |
| Runx1t1 |
C |
T |
4: 13,835,628 (GRCm39) |
|
probably benign |
Het |
| Sbno2 |
G |
T |
10: 79,896,439 (GRCm39) |
Y889* |
probably null |
Het |
| Sclt1 |
A |
G |
3: 41,681,546 (GRCm39) |
V91A |
probably damaging |
Het |
| Sema4g |
T |
A |
19: 44,987,456 (GRCm39) |
V534E |
probably benign |
Het |
| Shoc1 |
T |
G |
4: 59,066,441 (GRCm39) |
I768L |
probably benign |
Het |
| Slc10a1 |
G |
A |
12: 81,000,446 (GRCm39) |
S351F |
probably benign |
Het |
| Slc19a3 |
A |
T |
1: 83,000,468 (GRCm39) |
V183E |
probably damaging |
Het |
| Slc25a12 |
A |
G |
2: 71,164,054 (GRCm39) |
Y74H |
possibly damaging |
Het |
| Slc6a19 |
T |
A |
13: 73,841,069 (GRCm39) |
I114L |
probably benign |
Het |
| Smpd2 |
A |
T |
10: 41,364,232 (GRCm39) |
C189S |
probably benign |
Het |
| Spon1 |
T |
A |
7: 113,616,018 (GRCm39) |
V295D |
probably benign |
Het |
| Tet3 |
A |
G |
6: 83,380,627 (GRCm39) |
S514P |
probably benign |
Het |
| Tnk1 |
T |
C |
11: 69,747,754 (GRCm39) |
I49M |
probably damaging |
Het |
| Trim80 |
A |
G |
11: 115,337,619 (GRCm39) |
T431A |
probably benign |
Het |
| Vgf |
A |
T |
5: 137,060,153 (GRCm39) |
Q105L |
possibly damaging |
Het |
| Vmn1r37 |
G |
T |
6: 66,708,780 (GRCm39) |
L135F |
probably benign |
Het |
| Vps37d |
C |
T |
5: 135,102,594 (GRCm39) |
A128T |
possibly damaging |
Het |
| Wwp1 |
T |
C |
4: 19,650,197 (GRCm39) |
D323G |
probably benign |
Het |
| Zfp456 |
T |
A |
13: 67,515,482 (GRCm39) |
I75L |
probably benign |
Het |
| Zfp990 |
A |
G |
4: 145,264,780 (GRCm39) |
I593V |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGCTTCTGGTATAGCTGAG -3'
(R):5'- TTCTGAAAGCAGTCCTGAACTC -3'
Sequencing Primer
(F):5'- TGAGTGCTAGCTCTCAGAAGC -3'
(R):5'- CTGCTCATCTCCAGTGTA -3'
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| Posted On |
2014-06-23 |
Incidental Mutation