Incidental Mutation 'R5594:Sardh'
| ID |
437676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sardh
|
| Ensembl Gene |
ENSMUSG00000009614 |
| Gene Name |
sarcosine dehydrogenase |
| Synonyms |
|
| MMRRC Submission |
043146-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R5594 (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 27110735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 577
(F577S)
|
| 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 damaging
Transcript: ENSMUST00000102886
AA Change: F577S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: F577S
| 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 |
0.9730 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
| Validation Efficiency |
100% (80/80) |
| 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 |
|---|
| 4930556J24Rik |
C |
T |
11: 3,888,027 (GRCm39) |
V120I |
unknown |
Het |
| 4931414P19Rik |
A |
G |
14: 54,822,441 (GRCm39) |
Y399H |
probably damaging |
Het |
| Abca9 |
G |
T |
11: 110,035,688 (GRCm39) |
P644Q |
probably damaging |
Het |
| Acly |
T |
C |
11: 100,412,946 (GRCm39) |
|
probably null |
Het |
| Adamts14 |
A |
T |
10: 61,062,880 (GRCm39) |
|
probably null |
Het |
| Ankdd1a |
T |
C |
9: 65,409,523 (GRCm39) |
N471S |
probably damaging |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,076,000 (GRCm39) |
T1345A |
probably benign |
Het |
| Arhgef40 |
T |
A |
14: 52,233,614 (GRCm39) |
L820H |
probably damaging |
Het |
| Atp2b4 |
A |
G |
1: 133,658,248 (GRCm39) |
V554A |
probably damaging |
Het |
| Birc7 |
G |
A |
2: 180,575,129 (GRCm39) |
|
probably null |
Het |
| Ccdc80 |
C |
T |
16: 44,936,626 (GRCm39) |
R684C |
probably benign |
Het |
| Cdc25b |
C |
A |
2: 131,033,538 (GRCm39) |
P159Q |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,841,252 (GRCm39) |
D647E |
probably benign |
Het |
| Chek2 |
G |
T |
5: 111,003,700 (GRCm39) |
|
probably null |
Het |
| Chil6 |
C |
T |
3: 106,301,745 (GRCm39) |
|
probably null |
Het |
| Cr2 |
A |
G |
1: 194,839,498 (GRCm39) |
I643T |
probably damaging |
Het |
| Cwf19l2 |
C |
A |
9: 3,418,773 (GRCm39) |
Q187K |
probably benign |
Het |
| Cyth4 |
A |
G |
15: 78,491,275 (GRCm39) |
|
probably null |
Het |
| Depdc5 |
A |
G |
5: 33,058,834 (GRCm39) |
T268A |
possibly damaging |
Het |
| Dnah17 |
G |
T |
11: 117,934,055 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,570,844 (GRCm39) |
Y2210C |
possibly damaging |
Het |
| Elmod3 |
G |
A |
6: 72,571,799 (GRCm39) |
|
probably benign |
Het |
| Eogt |
T |
A |
6: 97,092,996 (GRCm39) |
T394S |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,968,317 (GRCm39) |
V182A |
possibly damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,166,223 (GRCm39) |
I315T |
probably benign |
Het |
| Fibcd1 |
T |
C |
2: 31,728,629 (GRCm39) |
N76S |
probably damaging |
Het |
| Gcc2 |
G |
T |
10: 58,123,064 (GRCm39) |
R1190M |
probably damaging |
Het |
| Gfm2 |
T |
C |
13: 97,301,546 (GRCm39) |
S450P |
probably damaging |
Het |
| Glg1 |
G |
A |
8: 111,914,513 (GRCm39) |
R424C |
probably damaging |
Het |
| Gm11543 |
T |
A |
11: 94,719,380 (GRCm39) |
|
noncoding transcript |
Het |
| Hhip |
G |
T |
8: 80,723,492 (GRCm39) |
D387E |
probably damaging |
Het |
| Hif1a |
T |
A |
12: 73,984,566 (GRCm39) |
Y46* |
probably null |
Het |
| Hivep3 |
G |
T |
4: 119,980,245 (GRCm39) |
|
probably null |
Het |
| Kif13a |
T |
A |
13: 46,906,338 (GRCm39) |
E535V |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,734,554 (GRCm39) |
Y15H |
probably damaging |
Het |
| Lyst |
T |
G |
13: 13,917,918 (GRCm39) |
I3326S |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,933,982 (GRCm39) |
V3560E |
probably benign |
Het |
| Megf11 |
T |
C |
9: 64,593,755 (GRCm39) |
F613L |
probably damaging |
Het |
| Misp |
G |
A |
10: 79,662,977 (GRCm39) |
V465M |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Ms4a6c |
T |
A |
19: 11,455,537 (GRCm39) |
D115E |
probably benign |
Het |
| Msh6 |
A |
G |
17: 88,293,497 (GRCm39) |
T751A |
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 78,101,647 (GRCm39) |
T429S |
probably benign |
Het |
| Oplah |
A |
C |
15: 76,180,837 (GRCm39) |
*1289G |
probably null |
Het |
| Or14j7 |
T |
A |
17: 38,234,502 (GRCm39) |
M15K |
probably benign |
Het |
| Or7e166 |
T |
C |
9: 19,624,302 (GRCm39) |
Y60H |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhga6 |
A |
T |
18: 37,841,581 (GRCm39) |
T434S |
probably benign |
Het |
| Pign |
A |
G |
1: 105,574,594 (GRCm39) |
|
probably benign |
Het |
| Poteg |
A |
T |
8: 27,937,996 (GRCm39) |
I51F |
probably benign |
Het |
| Prrc2c |
C |
A |
1: 162,526,600 (GRCm39) |
V204F |
unknown |
Het |
| Rhbdd3 |
T |
C |
11: 5,055,710 (GRCm39) |
S325P |
probably damaging |
Het |
| Rit1 |
T |
A |
3: 88,636,444 (GRCm39) |
L116Q |
probably damaging |
Het |
| Rpl22 |
T |
A |
4: 152,410,259 (GRCm39) |
|
probably benign |
Het |
| Rttn |
A |
G |
18: 89,108,560 (GRCm39) |
E1588G |
possibly damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,933,258 (GRCm39) |
D105E |
probably benign |
Het |
| Slc22a23 |
T |
A |
13: 34,489,240 (GRCm39) |
D215V |
probably damaging |
Het |
| Slc4a8 |
C |
A |
15: 100,693,768 (GRCm39) |
P438T |
probably damaging |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Stk19 |
C |
T |
17: 35,039,538 (GRCm39) |
|
probably benign |
Het |
| Stx5a |
T |
C |
19: 8,725,829 (GRCm39) |
I143T |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,067,339 (GRCm39) |
H2232R |
possibly damaging |
Het |
| Trmt9b |
A |
G |
8: 36,979,452 (GRCm39) |
T352A |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,066,579 (GRCm39) |
I358T |
probably benign |
Het |
| Tuba8 |
A |
G |
6: 121,202,863 (GRCm39) |
D392G |
possibly damaging |
Het |
| Vmn1r1 |
G |
A |
1: 181,984,972 (GRCm39) |
P231L |
probably damaging |
Het |
| Zfp330 |
A |
G |
8: 83,493,941 (GRCm39) |
W107R |
probably damaging |
Het |
| Zfp715 |
T |
A |
7: 42,949,116 (GRCm39) |
Q281H |
possibly damaging |
Het |
| Zfp9 |
T |
C |
6: 118,442,000 (GRCm39) |
T221A |
probably damaging |
Het |
| Zgpat |
T |
C |
2: 181,007,420 (GRCm39) |
|
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 |
|
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'- TCTCCAAGTACTTGTGGCCC -3'
(R):5'- AGCTGGGATGACTGAGACTG -3'
Sequencing Primer
(F):5'- TCCCTTCTGTGAGCAAAAGG -3'
(R):5'- TGACTGAGACTGGGAGGGC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation