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: 0.109)
|
| Stock # |
PIT4305001 (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 C
at 27118326 bp (GRCm39)
|
| 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: 171,086,610 (GRCm39) |
N801D |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,826,721 (GRCm39) |
K661R |
probably benign |
Het |
| Akap1 |
A |
T |
11: 88,735,204 (GRCm39) |
M486K |
probably benign |
Het |
| Arhgap40 |
T |
A |
2: 158,373,825 (GRCm39) |
I202N |
probably benign |
Het |
| C1qtnf2 |
T |
A |
11: 43,382,022 (GRCm39) |
L248Q |
probably damaging |
Het |
| Casp1 |
A |
T |
9: 5,306,135 (GRCm39) |
H340L |
probably benign |
Het |
| Cd5 |
A |
G |
19: 10,703,750 (GRCm39) |
V104A |
possibly damaging |
Het |
| Celsr1 |
T |
A |
15: 85,785,138 (GRCm39) |
E3032V |
possibly damaging |
Het |
| Cts7 |
A |
G |
13: 61,504,386 (GRCm39) |
I59T |
probably damaging |
Het |
| Cutc |
G |
T |
19: 43,756,708 (GRCm39) |
A267S |
probably damaging |
Het |
| Dmwd |
A |
G |
7: 18,814,643 (GRCm39) |
Q431R |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,042,738 (GRCm39) |
N3280S |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,412,508 (GRCm39) |
N4039I |
probably damaging |
Het |
| Dnaja4 |
T |
C |
9: 54,617,918 (GRCm39) |
I260T |
probably benign |
Het |
| Drd5 |
T |
C |
5: 38,477,927 (GRCm39) |
F307L |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,179,300 (GRCm39) |
S256N |
probably damaging |
Het |
| Dstyk |
G |
T |
1: 132,383,634 (GRCm39) |
E617* |
probably null |
Het |
| Dusp15 |
G |
A |
2: 152,787,396 (GRCm39) |
H72Y |
probably benign |
Het |
| Dysf |
C |
T |
6: 84,077,216 (GRCm39) |
R660* |
probably null |
Het |
| Fbxl13 |
T |
A |
5: 21,727,146 (GRCm39) |
I584L |
probably benign |
Het |
| Gsap |
T |
C |
5: 21,391,407 (GRCm39) |
L16P |
probably damaging |
Het |
| Hgsnat |
C |
T |
8: 26,435,227 (GRCm39) |
A636T |
possibly damaging |
Het |
| Hivep1 |
A |
G |
13: 42,335,147 (GRCm39) |
T161A |
|
Het |
| Hspg2 |
T |
C |
4: 137,277,684 (GRCm39) |
S2928P |
possibly damaging |
Het |
| Ifi214 |
G |
A |
1: 173,355,485 (GRCm39) |
P108S |
probably benign |
Het |
| Il17ra |
A |
T |
6: 120,458,367 (GRCm39) |
Y506F |
probably damaging |
Het |
| Il9r |
T |
A |
11: 32,144,734 (GRCm39) |
Q53L |
probably benign |
Het |
| Irf2bp2 |
C |
T |
8: 127,319,398 (GRCm39) |
G260R |
probably damaging |
Het |
| Jdp2 |
T |
A |
12: 85,685,626 (GRCm39) |
I129N |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,305,249 (GRCm39) |
|
probably null |
Het |
| Klrd1 |
A |
G |
6: 129,573,670 (GRCm39) |
T120A |
unknown |
Het |
| Lfng |
A |
G |
5: 140,598,283 (GRCm39) |
N202D |
probably damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,802,095 (GRCm39) |
E757G |
probably damaging |
Het |
| Ltn1 |
G |
A |
16: 87,217,211 (GRCm39) |
P342L |
probably damaging |
Het |
| Lum |
A |
C |
10: 97,404,738 (GRCm39) |
Y211S |
probably damaging |
Het |
| Ncapd2 |
G |
A |
6: 125,160,990 (GRCm39) |
R292* |
probably null |
Het |
| Nlrc4 |
T |
C |
17: 74,753,304 (GRCm39) |
T360A |
probably damaging |
Het |
| Or4c1 |
T |
C |
2: 89,133,727 (GRCm39) |
I70V |
probably benign |
Het |
| Or7g32 |
T |
C |
9: 19,389,357 (GRCm39) |
Y63C |
probably damaging |
Het |
| Pakap |
C |
A |
4: 57,638,029 (GRCm39) |
T22K |
possibly damaging |
Het |
| Pde3a |
A |
G |
6: 141,438,036 (GRCm39) |
D1035G |
probably benign |
Het |
| Phf20l1 |
A |
T |
15: 66,484,901 (GRCm39) |
K322I |
possibly damaging |
Het |
| Pik3r3 |
A |
C |
4: 116,149,323 (GRCm39) |
N349T |
probably benign |
Het |
| Poc1a |
A |
G |
9: 106,227,028 (GRCm39) |
Q420R |
|
Het |
| Prl7d1 |
A |
T |
13: 27,898,320 (GRCm39) |
M63K |
possibly damaging |
Het |
| Rap1gds1 |
C |
A |
3: 138,662,061 (GRCm39) |
M398I |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,570,203 (GRCm39) |
V1192D |
probably damaging |
Het |
| Rif1 |
T |
C |
2: 52,001,970 (GRCm39) |
V166A |
|
Het |
| Robo4 |
T |
C |
9: 37,322,687 (GRCm39) |
Y847H |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,628,345 (GRCm39) |
T553A |
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,001,976 (GRCm39) |
Y247H |
probably damaging |
Het |
| Speer4e2 |
T |
C |
5: 15,028,804 (GRCm39) |
D29G |
probably benign |
Het |
| Ston2 |
G |
T |
12: 91,615,276 (GRCm39) |
D377E |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,283,023 (GRCm39) |
S1557P |
probably damaging |
Het |
| Syt6 |
C |
T |
3: 103,482,769 (GRCm39) |
R26W |
possibly damaging |
Het |
| Tep1 |
C |
T |
14: 51,066,684 (GRCm39) |
G2305R |
possibly damaging |
Het |
| Ticrr |
A |
G |
7: 79,328,771 (GRCm39) |
T637A |
possibly damaging |
Het |
| Tnn |
A |
T |
1: 159,913,647 (GRCm39) |
F1546Y |
possibly damaging |
Het |
| Tpr |
A |
G |
1: 150,315,888 (GRCm39) |
D2055G |
possibly damaging |
Het |
| Trim39 |
A |
G |
17: 36,579,862 (GRCm39) |
V31A |
possibly damaging |
Het |
| Trpc7 |
G |
T |
13: 57,035,321 (GRCm39) |
T204K |
probably benign |
Het |
| Urgcp |
T |
C |
11: 5,667,996 (GRCm39) |
Y157C |
probably damaging |
Het |
| Vmn1r81 |
A |
T |
7: 11,994,590 (GRCm39) |
I6K |
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 |
|
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 |
|
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'- AAGCCCCTGTGGAAACTAGTC -3'
(R):5'- GTGACTGAGTAAAGAGGCTAACCC -3'
Sequencing Primer
(F):5'- GTGGAAACTAGTCTCTTCCACC -3'
(R):5'- TAACCCTGGCCCAGATTTGGTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation