Incidental Mutation 'R7193:Sqor'
| ID |
559704 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sqor
|
| Ensembl Gene |
ENSMUSG00000005803 |
| Gene Name |
sulfide quinone oxidoreductase |
| Synonyms |
0610039J17Rik, Sqrdl, 4930557M22Rik, flavo-binding protein |
| MMRRC Submission |
045334-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7193 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
122607249-122651473 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 122645929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 318
(V318M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005953]
[ENSMUST00000110506]
[ENSMUST00000126403]
[ENSMUST00000176343]
|
| AlphaFold |
Q9R112 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005953
AA Change: V318M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005953
Gene: ENSMUSG00000005803
AA Change: V318M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyr_redox_2
|
44 |
189 |
1.7e-11 |
PFAM |
|
SCOP:d1fcda1
|
240 |
364 |
2e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110506
AA Change: V318M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106133
Gene: ENSMUSG00000005803
AA Change: V318M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyr_redox_2
|
45 |
342 |
7e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126403
|
| SMART Domains |
Protein: ENSMUSP00000117575
Gene: ENSMUSG00000005803
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyr_redox_2
|
45 |
192 |
8.3e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176343
AA Change: V100M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135786
Gene: ENSMUSG00000005803
AA Change: V100M
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fl2a1
|
25 |
132 |
6e-8 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,265,963 (GRCm39) |
|
probably null |
Het |
| Abca16 |
T |
C |
7: 120,026,409 (GRCm39) |
S124P |
probably damaging |
Het |
| Acan |
A |
T |
7: 78,736,090 (GRCm39) |
S179C |
probably damaging |
Het |
| Atg2b |
A |
C |
12: 105,630,967 (GRCm39) |
H319Q |
probably damaging |
Het |
| Bptf |
G |
A |
11: 106,945,635 (GRCm39) |
Q2535* |
probably null |
Het |
| Brpf3 |
T |
C |
17: 29,055,665 (GRCm39) |
*1205R |
probably null |
Het |
| Cabyr |
C |
A |
18: 12,884,815 (GRCm39) |
P434Q |
probably damaging |
Het |
| Cacna1g |
C |
A |
11: 94,300,057 (GRCm39) |
D2268Y |
possibly damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cct4 |
A |
G |
11: 22,947,111 (GRCm39) |
T201A |
probably benign |
Het |
| Cdyl2 |
A |
C |
8: 117,350,733 (GRCm39) |
S133A |
probably benign |
Het |
| Cep76 |
A |
G |
18: 67,774,204 (GRCm39) |
L14P |
possibly damaging |
Het |
| Cert1 |
T |
A |
13: 96,767,341 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
A |
T |
16: 59,379,956 (GRCm39) |
S433T |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,849,423 (GRCm39) |
K574R |
probably damaging |
Het |
| Cyp2u1 |
T |
C |
3: 131,084,792 (GRCm39) |
I527V |
probably benign |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,213 (GRCm39) |
I225F |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,046,966 (GRCm39) |
N2142S |
probably damaging |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Flnc |
A |
G |
6: 29,450,870 (GRCm39) |
Y1506C |
probably damaging |
Het |
| Foxred2 |
T |
A |
15: 77,836,230 (GRCm39) |
S376C |
probably damaging |
Het |
| Gbe1 |
T |
C |
16: 70,292,258 (GRCm39) |
L530P |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,525,331 (GRCm39) |
R3398G |
probably null |
Het |
| Igf1r |
T |
C |
7: 67,836,905 (GRCm39) |
L587P |
probably damaging |
Het |
| Ints15 |
A |
G |
5: 143,293,598 (GRCm39) |
V293A |
probably benign |
Het |
| Kcna3 |
T |
C |
3: 106,943,853 (GRCm39) |
Y39H |
probably benign |
Het |
| Krtap5-2 |
GCCACAGCCTCCCTTGCAACCCCCACAGGAGCCACAGCCCCCACAGGAACTACAGCCTCCCTTGCA |
GCTACAGCCTCCCTTGCA |
7: 141,728,980 (GRCm39) |
|
probably benign |
Het |
| Mbl1 |
T |
C |
14: 40,880,669 (GRCm39) |
F186L |
probably damaging |
Het |
| Ncam2 |
A |
T |
16: 81,386,683 (GRCm39) |
K687N |
probably damaging |
Het |
| Nedd4l |
T |
C |
18: 65,130,441 (GRCm39) |
V24A |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,526,612 (GRCm39) |
E661G |
probably damaging |
Het |
| Nudt14 |
G |
T |
12: 112,902,940 (GRCm39) |
D28E |
probably benign |
Het |
| Or13n4 |
T |
C |
7: 106,423,798 (GRCm39) |
|
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,459,248 (GRCm39) |
C213S |
probably benign |
Het |
| Or2n1 |
T |
A |
17: 38,485,987 (GRCm39) |
I4N |
probably benign |
Het |
| Or4k47 |
A |
T |
2: 111,451,600 (GRCm39) |
V273E |
probably damaging |
Het |
| Pdk4 |
A |
T |
6: 5,487,089 (GRCm39) |
M319K |
probably benign |
Het |
| Pfkp |
T |
C |
13: 6,643,252 (GRCm39) |
N522S |
probably benign |
Het |
| Pias2 |
T |
C |
18: 77,207,817 (GRCm39) |
V234A |
possibly damaging |
Het |
| Pik3c2b |
C |
A |
1: 133,007,512 (GRCm39) |
H625Q |
probably benign |
Het |
| Pnpla7 |
T |
C |
2: 24,941,627 (GRCm39) |
S1117P |
probably damaging |
Het |
| Prdm2 |
A |
T |
4: 142,907,464 (GRCm39) |
V36D |
probably damaging |
Het |
| Prep |
C |
T |
10: 44,968,795 (GRCm39) |
R98C |
probably benign |
Het |
| Rae1 |
T |
C |
2: 172,850,110 (GRCm39) |
|
probably null |
Het |
| Rgs3 |
T |
A |
4: 62,533,573 (GRCm39) |
V138E |
probably damaging |
Het |
| Rnf185 |
T |
C |
11: 3,375,329 (GRCm39) |
T142A |
possibly damaging |
Het |
| Rsph6a |
C |
A |
7: 18,799,572 (GRCm39) |
P401Q |
probably damaging |
Het |
| Runx3 |
A |
T |
4: 134,848,456 (GRCm39) |
T14S |
probably benign |
Het |
| Scaf11 |
A |
G |
15: 96,317,042 (GRCm39) |
S841P |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,012,178 (GRCm39) |
L328Q |
probably damaging |
Het |
| Stox2 |
T |
C |
8: 47,639,489 (GRCm39) |
T902A |
probably benign |
Het |
| Susd3 |
T |
C |
13: 49,384,679 (GRCm39) |
H248R |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,183,406 (GRCm39) |
Y4133C |
probably damaging |
Het |
| Tbc1d20 |
C |
T |
2: 152,153,337 (GRCm39) |
T289M |
probably benign |
Het |
| Unc80 |
T |
A |
1: 66,588,943 (GRCm39) |
F1036Y |
possibly damaging |
Het |
| Zbtb7c |
T |
C |
18: 76,271,009 (GRCm39) |
C366R |
probably damaging |
Het |
| Zeb1 |
A |
T |
18: 5,772,756 (GRCm39) |
D1015V |
probably damaging |
Het |
| Zfp606 |
T |
G |
7: 12,227,966 (GRCm39) |
S696A |
probably benign |
Het |
|
| Other mutations in Sqor |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Sqor
|
APN |
2 |
122,629,463 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01544:Sqor
|
APN |
2 |
122,634,266 (GRCm39) |
splice site |
probably benign |
|
|
IGL02499:Sqor
|
APN |
2 |
122,650,007 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02583:Sqor
|
APN |
2 |
122,641,690 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02732:Sqor
|
APN |
2 |
122,641,682 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL03137:Sqor
|
APN |
2 |
122,649,991 (GRCm39) |
missense |
probably benign |
|
|
H8786:Sqor
|
UTSW |
2 |
122,634,288 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0126:Sqor
|
UTSW |
2 |
122,639,947 (GRCm39) |
unclassified |
probably benign |
|
|
R0410:Sqor
|
UTSW |
2 |
122,629,442 (GRCm39) |
missense |
probably benign |
|
|
R0502:Sqor
|
UTSW |
2 |
122,639,970 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0709:Sqor
|
UTSW |
2 |
122,641,775 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1486:Sqor
|
UTSW |
2 |
122,649,565 (GRCm39) |
splice site |
probably null |
|
|
R2001:Sqor
|
UTSW |
2 |
122,640,018 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2020:Sqor
|
UTSW |
2 |
122,646,027 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2039:Sqor
|
UTSW |
2 |
122,634,324 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2404:Sqor
|
UTSW |
2 |
122,649,943 (GRCm39) |
missense |
probably benign |
|
|
R4213:Sqor
|
UTSW |
2 |
122,629,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4909:Sqor
|
UTSW |
2 |
122,627,101 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5630:Sqor
|
UTSW |
2 |
122,651,277 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5659:Sqor
|
UTSW |
2 |
122,629,523 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5728:Sqor
|
UTSW |
2 |
122,651,320 (GRCm39) |
makesense |
probably null |
|
|
R5772:Sqor
|
UTSW |
2 |
122,651,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6527:Sqor
|
UTSW |
2 |
122,651,206 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6657:Sqor
|
UTSW |
2 |
122,649,514 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6843:Sqor
|
UTSW |
2 |
122,651,215 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6843:Sqor
|
UTSW |
2 |
122,626,900 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7320:Sqor
|
UTSW |
2 |
122,641,730 (GRCm39) |
missense |
probably benign |
|
|
R7417:Sqor
|
UTSW |
2 |
122,629,450 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7846:Sqor
|
UTSW |
2 |
122,627,008 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8913:Sqor
|
UTSW |
2 |
122,641,806 (GRCm39) |
missense |
probably benign |
|
|
R8939:Sqor
|
UTSW |
2 |
122,649,549 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9007:Sqor
|
UTSW |
2 |
122,649,876 (GRCm39) |
nonsense |
probably null |
|
|
R9030:Sqor
|
UTSW |
2 |
122,629,514 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9447:Sqor
|
UTSW |
2 |
122,649,520 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9790:Sqor
|
UTSW |
2 |
122,626,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9791:Sqor
|
UTSW |
2 |
122,626,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCCTTGCGGCCATTATG -3'
(R):5'- TGCCTTGAGGAAGCCAAAG -3'
Sequencing Primer
(F):5'- CCTTGCGGCCATTATGAAATAC -3'
(R):5'- TTTAGGTCACAAAAGGTTTTACCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation