Incidental Mutation 'PIT4305001:Sardh'
| ID |
554533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sardh
|
| Ensembl Gene |
ENSMUSG00000009614 |
| Gene Name |
sarcosine dehydrogenase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
PIT4305001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
27188393-27248337 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27228314 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 468
(N468S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102886]
|
| AlphaFold |
Q99LB7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102886
AA Change: N468S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: N468S
| 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: 93.4%
- 3x: 91.3%
- 10x: 86.8%
- 20x: 76.6%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts4 |
A |
G |
1: 171,259,041 (GRCm38) |
N801D |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,678,602 (GRCm38) |
K661R |
probably benign |
Het |
| Akap1 |
A |
T |
11: 88,844,378 (GRCm38) |
M486K |
probably benign |
Het |
| Arhgap40 |
T |
A |
2: 158,531,905 (GRCm38) |
I202N |
probably benign |
Het |
| C1qtnf2 |
T |
A |
11: 43,491,195 (GRCm38) |
L248Q |
probably damaging |
Het |
| Casp1 |
A |
T |
9: 5,306,135 (GRCm38) |
H340L |
probably benign |
Het |
| Cd5 |
A |
G |
19: 10,726,386 (GRCm38) |
V104A |
possibly damaging |
Het |
| Celsr1 |
T |
A |
15: 85,900,937 (GRCm38) |
E3032V |
possibly damaging |
Het |
| Cts7 |
A |
G |
13: 61,356,572 (GRCm38) |
I59T |
probably damaging |
Het |
| Cutc |
G |
T |
19: 43,768,269 (GRCm38) |
A267S |
probably damaging |
Het |
| Dmwd |
A |
G |
7: 19,080,718 (GRCm38) |
Q431R |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,065,755 (GRCm38) |
N3280S |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,373,348 (GRCm38) |
N4039I |
probably damaging |
Het |
| Dnaja4 |
T |
C |
9: 54,710,634 (GRCm38) |
I260T |
probably benign |
Het |
| Drd5 |
T |
C |
5: 38,320,584 (GRCm38) |
F307L |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,046,243 (GRCm38) |
S256N |
probably damaging |
Het |
| Dstyk |
G |
T |
1: 132,455,896 (GRCm38) |
E617* |
probably null |
Het |
| Dusp15 |
G |
A |
2: 152,945,476 (GRCm38) |
H72Y |
probably benign |
Het |
| Dysf |
C |
T |
6: 84,100,234 (GRCm38) |
R660* |
probably null |
Het |
| Fbxl13 |
T |
A |
5: 21,522,148 (GRCm38) |
I584L |
probably benign |
Het |
| Gm10354 |
T |
C |
5: 14,978,790 (GRCm38) |
D29G |
probably benign |
Het |
| Gsap |
T |
C |
5: 21,186,409 (GRCm38) |
L16P |
probably damaging |
Het |
| Hgsnat |
C |
T |
8: 25,945,199 (GRCm38) |
A636T |
possibly damaging |
Het |
| Hivep1 |
A |
G |
13: 42,181,671 (GRCm38) |
T161A |
|
Het |
| Hspg2 |
T |
C |
4: 137,550,373 (GRCm38) |
S2928P |
possibly damaging |
Het |
| Ifi214 |
G |
A |
1: 173,527,919 (GRCm38) |
P108S |
probably benign |
Het |
| Il17ra |
A |
T |
6: 120,481,406 (GRCm38) |
Y506F |
probably damaging |
Het |
| Il9r |
T |
A |
11: 32,194,734 (GRCm38) |
Q53L |
probably benign |
Het |
| Irf2bp2 |
C |
T |
8: 126,592,659 (GRCm38) |
G260R |
probably damaging |
Het |
| Jdp2 |
T |
A |
12: 85,638,852 (GRCm38) |
I129N |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,220,792 (GRCm38) |
|
probably null |
Het |
| Klrd1 |
A |
G |
6: 129,596,707 (GRCm38) |
T120A |
unknown |
Het |
| Lfng |
A |
G |
5: 140,612,528 (GRCm38) |
N202D |
probably damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,752,067 (GRCm38) |
E757G |
probably damaging |
Het |
| Ltn1 |
G |
A |
16: 87,420,323 (GRCm38) |
P342L |
probably damaging |
Het |
| Lum |
A |
C |
10: 97,568,876 (GRCm38) |
Y211S |
probably damaging |
Het |
| Ncapd2 |
G |
A |
6: 125,184,027 (GRCm38) |
R292* |
probably null |
Het |
| Nlrc4 |
T |
C |
17: 74,446,309 (GRCm38) |
T360A |
probably damaging |
Het |
| Olfr1231 |
T |
C |
2: 89,303,383 (GRCm38) |
I70V |
probably benign |
Het |
| Olfr850 |
T |
C |
9: 19,478,061 (GRCm38) |
Y63C |
probably damaging |
Het |
| Palm2 |
C |
A |
4: 57,638,029 (GRCm38) |
T22K |
possibly damaging |
Het |
| Pde3a |
A |
G |
6: 141,492,310 (GRCm38) |
D1035G |
probably benign |
Het |
| Phf20l1 |
A |
T |
15: 66,613,052 (GRCm38) |
K322I |
possibly damaging |
Het |
| Pik3r3 |
A |
C |
4: 116,292,126 (GRCm38) |
N349T |
probably benign |
Het |
| Poc1a |
A |
G |
9: 106,349,829 (GRCm38) |
Q420R |
|
Het |
| Prl7d1 |
A |
T |
13: 27,714,337 (GRCm38) |
M63K |
possibly damaging |
Het |
| Rap1gds1 |
C |
A |
3: 138,956,300 (GRCm38) |
M398I |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,679,377 (GRCm38) |
V1192D |
probably damaging |
Het |
| Rif1 |
T |
C |
2: 52,111,958 (GRCm38) |
V166A |
|
Het |
| Robo4 |
T |
C |
9: 37,411,391 (GRCm38) |
Y847H |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,628,199 (GRCm38) |
T553A |
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,035,717 (GRCm38) |
Y247H |
probably damaging |
Het |
| Ston2 |
G |
T |
12: 91,648,502 (GRCm38) |
D377E |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,333,023 (GRCm38) |
S1557P |
probably damaging |
Het |
| Syt6 |
C |
T |
3: 103,575,453 (GRCm38) |
R26W |
possibly damaging |
Het |
| Tep1 |
C |
T |
14: 50,829,227 (GRCm38) |
G2305R |
possibly damaging |
Het |
| Ticrr |
A |
G |
7: 79,679,023 (GRCm38) |
T637A |
possibly damaging |
Het |
| Tnn |
A |
T |
1: 160,086,077 (GRCm38) |
F1546Y |
possibly damaging |
Het |
| Tpr |
A |
G |
1: 150,440,137 (GRCm38) |
D2055G |
possibly damaging |
Het |
| Trim39 |
A |
G |
17: 36,268,970 (GRCm38) |
V31A |
possibly damaging |
Het |
| Trpc7 |
G |
T |
13: 56,887,508 (GRCm38) |
T204K |
probably benign |
Het |
| Urgcp |
T |
C |
11: 5,717,996 (GRCm38) |
Y157C |
probably damaging |
Het |
| Vmn1r81 |
A |
T |
7: 12,260,663 (GRCm38) |
I6K |
probably benign |
Het |
|
| Other mutations in Sardh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01110:Sardh
|
APN |
2 |
27,215,113 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL01686:Sardh
|
APN |
2 |
27,189,613 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01868:Sardh
|
APN |
2 |
27,227,147 (GRCm38) |
missense |
probably benign |
0.35 |
|
IGL02167:Sardh
|
APN |
2 |
27,191,975 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02272:Sardh
|
APN |
2 |
27,224,991 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02870:Sardh
|
APN |
2 |
27,235,491 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL03117:Sardh
|
APN |
2 |
27,239,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4791001:Sardh
|
UTSW |
2 |
27,197,648 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0265:Sardh
|
UTSW |
2 |
27,227,066 (GRCm38) |
splice site |
probably benign |
|
|
R0781:Sardh
|
UTSW |
2 |
27,191,919 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1110:Sardh
|
UTSW |
2 |
27,191,919 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1242:Sardh
|
UTSW |
2 |
27,235,563 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1404:Sardh
|
UTSW |
2 |
27,239,461 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1404:Sardh
|
UTSW |
2 |
27,239,461 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1514:Sardh
|
UTSW |
2 |
27,197,690 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1565:Sardh
|
UTSW |
2 |
27,242,719 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1832:Sardh
|
UTSW |
2 |
27,235,569 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1836:Sardh
|
UTSW |
2 |
27,215,182 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R1997:Sardh
|
UTSW |
2 |
27,244,397 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2006:Sardh
|
UTSW |
2 |
27,228,339 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2046:Sardh
|
UTSW |
2 |
27,215,082 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2242:Sardh
|
UTSW |
2 |
27,235,515 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R2897:Sardh
|
UTSW |
2 |
27,189,547 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4332:Sardh
|
UTSW |
2 |
27,215,114 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4807:Sardh
|
UTSW |
2 |
27,189,527 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4841:Sardh
|
UTSW |
2 |
27,191,955 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4842:Sardh
|
UTSW |
2 |
27,191,955 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4856:Sardh
|
UTSW |
2 |
27,244,477 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4936:Sardh
|
UTSW |
2 |
27,228,241 (GRCm38) |
splice site |
probably null |
|
|
R5089:Sardh
|
UTSW |
2 |
27,239,613 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5110:Sardh
|
UTSW |
2 |
27,189,547 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5257:Sardh
|
UTSW |
2 |
27,244,259 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5406:Sardh
|
UTSW |
2 |
27,211,084 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R5450:Sardh
|
UTSW |
2 |
27,239,698 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R5594:Sardh
|
UTSW |
2 |
27,220,723 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5870:Sardh
|
UTSW |
2 |
27,220,641 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6014:Sardh
|
UTSW |
2 |
27,197,528 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6021:Sardh
|
UTSW |
2 |
27,189,643 (GRCm38) |
missense |
probably benign |
0.44 |
|
R6470:Sardh
|
UTSW |
2 |
27,244,372 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6577:Sardh
|
UTSW |
2 |
27,218,855 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6750:Sardh
|
UTSW |
2 |
27,228,257 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7035:Sardh
|
UTSW |
2 |
27,230,842 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7162:Sardh
|
UTSW |
2 |
27,197,690 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7256:Sardh
|
UTSW |
2 |
27,218,812 (GRCm38) |
missense |
probably benign |
|
|
R7692:Sardh
|
UTSW |
2 |
27,197,639 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7709:Sardh
|
UTSW |
2 |
27,241,517 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R7884:Sardh
|
UTSW |
2 |
27,239,371 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8028:Sardh
|
UTSW |
2 |
27,230,455 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8095:Sardh
|
UTSW |
2 |
27,242,718 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8120:Sardh
|
UTSW |
2 |
27,218,851 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R8302:Sardh
|
UTSW |
2 |
27,215,110 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8323:Sardh
|
UTSW |
2 |
27,235,564 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8535:Sardh
|
UTSW |
2 |
27,239,645 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8704:Sardh
|
UTSW |
2 |
27,230,465 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R8781:Sardh
|
UTSW |
2 |
27,196,703 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8858:Sardh
|
UTSW |
2 |
27,228,290 (GRCm38) |
missense |
probably null |
1.00 |
|
R9265:Sardh
|
UTSW |
2 |
27,215,053 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9337:Sardh
|
UTSW |
2 |
27,196,666 (GRCm38) |
missense |
probably benign |
0.11 |
|
R9342:Sardh
|
UTSW |
2 |
27,230,857 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9539:Sardh
|
UTSW |
2 |
27,244,286 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9600:Sardh
|
UTSW |
2 |
27,230,501 (GRCm38) |
missense |
probably benign |
|
|
R9714:Sardh
|
UTSW |
2 |
27,189,629 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
X0011:Sardh
|
UTSW |
2 |
27,242,746 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Sardh
|
UTSW |
2 |
27,218,890 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
Z1176:Sardh
|
UTSW |
2 |
27,218,834 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
Z1176:Sardh
|
UTSW |
2 |
27,196,673 (GRCm38) |
missense |
probably benign |
0.08 |
|
Z1177:Sardh
|
UTSW |
2 |
27,235,513 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCCCTGTGGAAACTAGTC -3'
(R):5'- GTGACTGAGTAAAGAGGCTAACCC -3'
Sequencing Primer
(F):5'- GTGGAAACTAGTCTCTTCCACC -3'
(R):5'- TAACCCTGGCCCAGATTTGGTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation