Incidental Mutation 'R9545:Gm1110'
ID |
720061 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm1110
|
Ensembl Gene |
ENSMUSG00000079644 |
Gene Name |
predicted gene 1110 |
Synonyms |
LOC382064 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R9545 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
26790863-26834407 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26800977 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 406
(T406A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110916
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115261]
|
AlphaFold |
F6Y113 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000115261
AA Change: T406A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000110916 Gene: ENSMUSG00000079644 AA Change: T406A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_35
|
55 |
368 |
2e-93 |
PFAM |
Pfam:Glyco_hydro_42
|
70 |
229 |
1e-12 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,416,538 (GRCm39) |
L4100Q |
probably damaging |
Het |
Acss2 |
C |
A |
2: 155,403,716 (GRCm39) |
P652T |
probably damaging |
Het |
Agl |
A |
T |
3: 116,582,338 (GRCm39) |
I228N |
possibly damaging |
Het |
Ap5m1 |
C |
G |
14: 49,311,271 (GRCm39) |
Q114E |
possibly damaging |
Het |
Apob |
C |
T |
12: 8,033,890 (GRCm39) |
T201I |
possibly damaging |
Het |
As3mt |
G |
A |
19: 46,696,233 (GRCm39) |
V14I |
probably damaging |
Het |
Atp1a4 |
T |
C |
1: 172,078,464 (GRCm39) |
N258S |
probably benign |
Het |
Atxn1l |
C |
T |
8: 110,458,688 (GRCm39) |
V525M |
probably damaging |
Het |
B4galnt4 |
T |
C |
7: 140,644,804 (GRCm39) |
V208A |
probably benign |
Het |
Bet1 |
A |
T |
6: 4,077,973 (GRCm39) |
S89T |
probably damaging |
Het |
Cdhr1 |
T |
G |
14: 36,817,016 (GRCm39) |
N115T |
possibly damaging |
Het |
Cstf1 |
C |
T |
2: 172,212,885 (GRCm39) |
|
probably benign |
Het |
Dcdc2c |
G |
T |
12: 28,602,295 (GRCm39) |
T3K |
possibly damaging |
Het |
Deup1 |
C |
T |
9: 15,519,120 (GRCm39) |
E129K |
possibly damaging |
Het |
Dgkg |
T |
C |
16: 22,385,168 (GRCm39) |
E446G |
possibly damaging |
Het |
Dolk |
A |
G |
2: 30,176,016 (GRCm39) |
S10P |
probably benign |
Het |
Gm8439 |
C |
T |
4: 120,445,957 (GRCm39) |
|
probably benign |
Het |
Gna12 |
A |
G |
5: 140,746,575 (GRCm39) |
I290T |
probably damaging |
Het |
Gtf2h1 |
T |
C |
7: 46,458,112 (GRCm39) |
|
probably null |
Het |
Il4 |
C |
T |
11: 53,504,837 (GRCm39) |
R76H |
probably damaging |
Het |
Itgal |
T |
C |
7: 126,929,422 (GRCm39) |
F1113S |
probably damaging |
Het |
Kcnc3 |
T |
C |
7: 44,245,357 (GRCm39) |
L549P |
probably damaging |
Het |
Klhl26 |
T |
C |
8: 70,904,164 (GRCm39) |
D582G |
probably damaging |
Het |
Lhfpl5 |
C |
A |
17: 28,799,079 (GRCm39) |
A196D |
probably damaging |
Het |
Lipm |
T |
C |
19: 34,090,392 (GRCm39) |
M191T |
probably benign |
Het |
Lrp6 |
A |
G |
6: 134,483,329 (GRCm39) |
Y459H |
probably damaging |
Het |
Lzts1 |
C |
A |
8: 69,591,286 (GRCm39) |
K287N |
probably damaging |
Het |
Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
Mmp23 |
T |
A |
4: 155,735,980 (GRCm39) |
Q224L |
probably benign |
Het |
Ms4a13 |
C |
G |
19: 11,147,332 (GRCm39) |
S194T |
unknown |
Het |
Ms4a2 |
A |
G |
19: 11,596,237 (GRCm39) |
F164S |
probably benign |
Het |
Nudt15 |
A |
T |
14: 73,760,918 (GRCm39) |
C58S |
probably damaging |
Het |
Or2w25 |
A |
G |
11: 59,504,275 (GRCm39) |
T162A |
probably benign |
Het |
Or8h6 |
T |
C |
2: 86,703,615 (GRCm39) |
I151V |
probably benign |
Het |
Or9i1 |
A |
G |
19: 13,839,217 (GRCm39) |
H20R |
possibly damaging |
Het |
Panx3 |
A |
G |
9: 37,575,437 (GRCm39) |
F142L |
probably damaging |
Het |
Pik3r6 |
T |
C |
11: 68,422,365 (GRCm39) |
Y255H |
probably damaging |
Het |
Pnpt1 |
T |
C |
11: 29,106,840 (GRCm39) |
V637A |
probably benign |
Het |
Ppfibp2 |
T |
C |
7: 107,337,504 (GRCm39) |
L602P |
probably damaging |
Het |
Ppp2r3d |
T |
C |
9: 101,089,214 (GRCm39) |
N370D |
probably benign |
Het |
Ppp2r5d |
A |
T |
17: 46,995,687 (GRCm39) |
I454N |
probably damaging |
Het |
Pramel17 |
C |
A |
4: 101,693,097 (GRCm39) |
C301F |
probably damaging |
Het |
Radil |
A |
G |
5: 142,492,392 (GRCm39) |
V412A |
probably benign |
Het |
Reep3 |
TTGACAGATTTCATG |
TTG |
10: 66,850,703 (GRCm39) |
|
probably benign |
Het |
Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
Skic3 |
T |
A |
13: 76,259,832 (GRCm39) |
V44D |
probably damaging |
Het |
Spink5 |
G |
A |
18: 44,136,262 (GRCm39) |
V558I |
possibly damaging |
Het |
Stxbp5l |
T |
C |
16: 37,028,625 (GRCm39) |
|
probably null |
Het |
Svs5 |
T |
A |
2: 164,079,313 (GRCm39) |
Q198L |
possibly damaging |
Het |
Thap2 |
A |
T |
10: 115,208,834 (GRCm39) |
N95K |
probably benign |
Het |
Tie1 |
A |
G |
4: 118,336,112 (GRCm39) |
V718A |
probably benign |
Het |
Trpm3 |
G |
A |
19: 22,878,458 (GRCm39) |
E632K |
probably benign |
Het |
Ube4a |
A |
T |
9: 44,843,638 (GRCm39) |
|
probably null |
Het |
Utp20 |
A |
G |
10: 88,618,511 (GRCm39) |
I1163T |
probably benign |
Het |
Vav2 |
C |
T |
2: 27,173,351 (GRCm39) |
R491Q |
probably damaging |
Het |
Wapl |
T |
A |
14: 34,399,050 (GRCm39) |
F40I |
probably damaging |
Het |
Wdfy3 |
A |
C |
5: 102,100,957 (GRCm39) |
I220R |
|
Het |
Xrra1 |
T |
A |
7: 99,535,334 (GRCm39) |
V213D |
possibly damaging |
Het |
Zwilch |
A |
T |
9: 64,051,415 (GRCm39) |
V550E |
probably damaging |
Het |
|
Other mutations in Gm1110 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00591:Gm1110
|
APN |
9 |
26,792,170 (GRCm39) |
nonsense |
probably null |
|
IGL01089:Gm1110
|
APN |
9 |
26,793,156 (GRCm39) |
missense |
probably benign |
|
IGL01631:Gm1110
|
APN |
9 |
26,809,212 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02008:Gm1110
|
APN |
9 |
26,794,526 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02331:Gm1110
|
APN |
9 |
26,824,583 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02335:Gm1110
|
APN |
9 |
26,793,059 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02550:Gm1110
|
APN |
9 |
26,793,130 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02614:Gm1110
|
APN |
9 |
26,832,010 (GRCm39) |
missense |
probably benign |
0.11 |
IGL03409:Gm1110
|
APN |
9 |
26,807,916 (GRCm39) |
missense |
probably benign |
0.21 |
PIT4458001:Gm1110
|
UTSW |
9 |
26,792,124 (GRCm39) |
missense |
probably benign |
0.00 |
R0189:Gm1110
|
UTSW |
9 |
26,794,514 (GRCm39) |
missense |
probably null |
0.99 |
R0271:Gm1110
|
UTSW |
9 |
26,831,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R1034:Gm1110
|
UTSW |
9 |
26,832,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R1229:Gm1110
|
UTSW |
9 |
26,793,102 (GRCm39) |
missense |
probably benign |
|
R1355:Gm1110
|
UTSW |
9 |
26,795,057 (GRCm39) |
missense |
probably benign |
0.01 |
R1566:Gm1110
|
UTSW |
9 |
26,792,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R1574:Gm1110
|
UTSW |
9 |
26,792,422 (GRCm39) |
splice site |
probably benign |
|
R1916:Gm1110
|
UTSW |
9 |
26,800,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R2011:Gm1110
|
UTSW |
9 |
26,805,554 (GRCm39) |
missense |
probably benign |
0.01 |
R2214:Gm1110
|
UTSW |
9 |
26,813,786 (GRCm39) |
missense |
probably benign |
0.37 |
R2567:Gm1110
|
UTSW |
9 |
26,831,992 (GRCm39) |
missense |
probably benign |
|
R2967:Gm1110
|
UTSW |
9 |
26,792,339 (GRCm39) |
missense |
probably benign |
0.05 |
R4271:Gm1110
|
UTSW |
9 |
26,806,944 (GRCm39) |
critical splice donor site |
probably null |
|
R4683:Gm1110
|
UTSW |
9 |
26,831,890 (GRCm39) |
missense |
probably damaging |
0.99 |
R4945:Gm1110
|
UTSW |
9 |
26,831,891 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5015:Gm1110
|
UTSW |
9 |
26,793,162 (GRCm39) |
missense |
probably benign |
0.01 |
R5089:Gm1110
|
UTSW |
9 |
26,793,683 (GRCm39) |
missense |
probably damaging |
0.96 |
R5225:Gm1110
|
UTSW |
9 |
26,813,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R5239:Gm1110
|
UTSW |
9 |
26,804,866 (GRCm39) |
missense |
probably benign |
0.00 |
R5395:Gm1110
|
UTSW |
9 |
26,800,928 (GRCm39) |
missense |
probably benign |
|
R5783:Gm1110
|
UTSW |
9 |
26,793,632 (GRCm39) |
missense |
probably benign |
|
R6045:Gm1110
|
UTSW |
9 |
26,794,505 (GRCm39) |
critical splice donor site |
probably null |
|
R6245:Gm1110
|
UTSW |
9 |
26,832,043 (GRCm39) |
missense |
probably benign |
0.04 |
R6357:Gm1110
|
UTSW |
9 |
26,825,424 (GRCm39) |
splice site |
probably null |
|
R6863:Gm1110
|
UTSW |
9 |
26,792,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R7336:Gm1110
|
UTSW |
9 |
26,825,653 (GRCm39) |
missense |
probably damaging |
0.99 |
R7454:Gm1110
|
UTSW |
9 |
26,831,945 (GRCm39) |
missense |
probably benign |
|
R7555:Gm1110
|
UTSW |
9 |
26,804,924 (GRCm39) |
missense |
probably benign |
0.05 |
R7579:Gm1110
|
UTSW |
9 |
26,795,122 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7990:Gm1110
|
UTSW |
9 |
26,792,137 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8062:Gm1110
|
UTSW |
9 |
26,793,117 (GRCm39) |
missense |
probably damaging |
0.99 |
R8108:Gm1110
|
UTSW |
9 |
26,831,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R8323:Gm1110
|
UTSW |
9 |
26,813,719 (GRCm39) |
critical splice donor site |
probably null |
|
R8354:Gm1110
|
UTSW |
9 |
26,794,577 (GRCm39) |
missense |
probably benign |
0.00 |
R8354:Gm1110
|
UTSW |
9 |
26,794,576 (GRCm39) |
missense |
probably benign |
0.01 |
R8454:Gm1110
|
UTSW |
9 |
26,794,577 (GRCm39) |
missense |
probably benign |
0.00 |
R8454:Gm1110
|
UTSW |
9 |
26,794,576 (GRCm39) |
missense |
probably benign |
0.01 |
R8494:Gm1110
|
UTSW |
9 |
26,792,154 (GRCm39) |
missense |
probably benign |
0.04 |
R8978:Gm1110
|
UTSW |
9 |
26,807,095 (GRCm39) |
splice site |
probably benign |
|
R9321:Gm1110
|
UTSW |
9 |
26,831,891 (GRCm39) |
missense |
probably benign |
0.00 |
R9513:Gm1110
|
UTSW |
9 |
26,795,083 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9758:Gm1110
|
UTSW |
9 |
26,800,894 (GRCm39) |
nonsense |
probably null |
|
RF002:Gm1110
|
UTSW |
9 |
26,831,936 (GRCm39) |
missense |
probably damaging |
1.00 |
X0063:Gm1110
|
UTSW |
9 |
26,805,576 (GRCm39) |
missense |
probably benign |
0.01 |
Z1088:Gm1110
|
UTSW |
9 |
26,824,606 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- GGATGATGTCAACATACAAGTTCCAC -3'
(R):5'- ACGAGATTGGTTGGAAAGCC -3'
Sequencing Primer
(F):5'- CTCCACTGAAGATGACAGT -3'
(R):5'- GCTGTTGGGAATCATCTC -3'
|
Posted On |
2022-07-18 |