Incidental Mutation 'R7622:Gm19410'
| ID |
589200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm19410
|
| Ensembl Gene |
ENSMUSG00000109372 |
| Gene Name |
predicted gene, 19410 |
| Synonyms |
|
| MMRRC Submission |
045717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R7622 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
36232944-36285201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36277501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 1776
(T1776S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147162
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207505]
|
| AlphaFold |
A0A140LJC7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207505
AA Change: T1776S
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
G |
A |
5: 129,216,688 (GRCm39) |
D384N |
probably benign |
Het |
| Aqp8 |
T |
C |
7: 123,065,883 (GRCm39) |
F226S |
possibly damaging |
Het |
| Arl6ip6 |
A |
G |
2: 53,107,339 (GRCm39) |
Y207C |
probably damaging |
Het |
| Bltp1 |
C |
A |
3: 37,002,562 (GRCm39) |
C1502* |
probably null |
Het |
| Cbfa2t2 |
A |
G |
2: 154,342,365 (GRCm39) |
E27G |
possibly damaging |
Het |
| Cdc42bpb |
T |
G |
12: 111,261,206 (GRCm39) |
E201A |
unknown |
Het |
| Cfap54 |
A |
C |
10: 92,792,806 (GRCm39) |
V1769G |
unknown |
Het |
| Dmxl2 |
C |
T |
9: 54,379,502 (GRCm39) |
G7S |
probably damaging |
Het |
| Dnah6 |
G |
T |
6: 73,101,742 (GRCm39) |
F1927L |
possibly damaging |
Het |
| Dnajc6 |
A |
G |
4: 101,497,688 (GRCm39) |
E942G |
probably damaging |
Het |
| Fam170a |
A |
G |
18: 50,415,969 (GRCm39) |
R324G |
probably benign |
Het |
| Gapdhs |
G |
A |
7: 30,438,756 (GRCm39) |
T9I |
unknown |
Het |
| Gm10320 |
T |
A |
13: 98,626,232 (GRCm39) |
R51* |
probably null |
Het |
| Gm4846 |
A |
T |
1: 166,323,441 (GRCm39) |
M94K |
possibly damaging |
Het |
| Ighv2-5 |
G |
A |
12: 113,649,358 (GRCm39) |
Q32* |
probably null |
Het |
| Klc2 |
T |
C |
19: 5,161,660 (GRCm39) |
E310G |
probably damaging |
Het |
| Krt75 |
A |
G |
15: 101,478,707 (GRCm39) |
M309T |
probably damaging |
Het |
| Lrp11 |
G |
A |
10: 7,465,936 (GRCm39) |
G41R |
unknown |
Het |
| Lrrc52 |
G |
T |
1: 167,293,664 (GRCm39) |
P207Q |
probably benign |
Het |
| Lrrc52 |
G |
T |
1: 167,293,665 (GRCm39) |
P207T |
probably benign |
Het |
| Lrrk2 |
A |
T |
15: 91,696,526 (GRCm39) |
D2438V |
probably damaging |
Het |
| Mycbp |
C |
T |
4: 123,799,094 (GRCm39) |
T28M |
probably damaging |
Het |
| Myh14 |
A |
G |
7: 44,281,846 (GRCm39) |
V804A |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,426,238 (GRCm39) |
I332V |
unknown |
Het |
| Ncor1 |
G |
T |
11: 62,208,794 (GRCm39) |
Q1359K |
probably benign |
Het |
| Oog3 |
T |
C |
4: 143,884,889 (GRCm39) |
D349G |
probably benign |
Het |
| Or12e1 |
A |
T |
2: 87,022,594 (GRCm39) |
I188L |
probably benign |
Het |
| Or1j21 |
A |
G |
2: 36,683,943 (GRCm39) |
K232E |
probably benign |
Het |
| Or52b4i |
A |
G |
7: 102,191,830 (GRCm39) |
H229R |
probably benign |
Het |
| Or8k53 |
A |
G |
2: 86,178,006 (GRCm39) |
Y35H |
possibly damaging |
Het |
| Pate4 |
A |
G |
9: 35,519,595 (GRCm39) |
S32P |
possibly damaging |
Het |
| Pcdhb7 |
A |
C |
18: 37,475,514 (GRCm39) |
S217R |
probably benign |
Het |
| Pde1c |
G |
A |
6: 56,103,910 (GRCm39) |
R580C |
probably damaging |
Het |
| Pi4ka |
C |
A |
16: 17,111,841 (GRCm39) |
A1545S |
|
Het |
| Pign |
G |
T |
1: 105,575,842 (GRCm39) |
T266K |
possibly damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,260,090 (GRCm39) |
I1134T |
probably benign |
Het |
| Ppfia2 |
G |
A |
10: 106,666,520 (GRCm39) |
V409I |
possibly damaging |
Het |
| Prr7 |
A |
G |
13: 55,620,609 (GRCm39) |
T206A |
probably benign |
Het |
| Rnf13 |
A |
T |
3: 57,727,955 (GRCm39) |
R212* |
probably null |
Het |
| Rwdd2b |
T |
C |
16: 87,231,500 (GRCm39) |
N218S |
probably benign |
Het |
| Serpina3m |
A |
G |
12: 104,355,834 (GRCm39) |
D167G |
possibly damaging |
Het |
| Slit2 |
A |
T |
5: 48,142,547 (GRCm39) |
N56Y |
probably damaging |
Het |
| Sprr3 |
G |
T |
3: 92,364,592 (GRCm39) |
T84K |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,709,766 (GRCm39) |
H1626Q |
possibly damaging |
Het |
| Tex2 |
C |
A |
11: 106,437,721 (GRCm39) |
D650Y |
unknown |
Het |
| Tmprss6 |
A |
G |
15: 78,330,926 (GRCm39) |
S436P |
probably benign |
Het |
| Uba2 |
A |
C |
7: 33,864,860 (GRCm39) |
F63L |
probably damaging |
Het |
| Ubxn2b |
C |
T |
4: 6,214,692 (GRCm39) |
S242L |
probably damaging |
Het |
| Vmn1r86 |
T |
G |
7: 12,836,685 (GRCm39) |
I64L |
probably benign |
Het |
| Vmn2r67 |
A |
T |
7: 84,785,662 (GRCm39) |
V781E |
probably damaging |
Het |
| Vmn2r80 |
T |
A |
10: 79,030,097 (GRCm39) |
F641Y |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,800,231 (GRCm39) |
I1965K |
|
Het |
| Wdr25 |
G |
A |
12: 108,958,819 (GRCm39) |
G344S |
possibly damaging |
Het |
| Wdr90 |
G |
T |
17: 26,073,083 (GRCm39) |
F837L |
probably benign |
Het |
| Xpo4 |
A |
G |
14: 57,834,468 (GRCm39) |
V704A |
possibly damaging |
Het |
| Zc3h12d |
A |
G |
10: 7,743,033 (GRCm39) |
K268E |
probably damaging |
Het |
|
| Other mutations in Gm19410 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
BB009:Gm19410
|
UTSW |
8 |
36,262,753 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB019:Gm19410
|
UTSW |
8 |
36,262,753 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0046:Gm19410
|
UTSW |
8 |
36,269,799 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6026:Gm19410
|
UTSW |
8 |
36,279,580 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6039:Gm19410
|
UTSW |
8 |
36,276,518 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6039:Gm19410
|
UTSW |
8 |
36,276,518 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6185:Gm19410
|
UTSW |
8 |
36,274,664 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6239:Gm19410
|
UTSW |
8 |
36,245,918 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6303:Gm19410
|
UTSW |
8 |
36,274,714 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6377:Gm19410
|
UTSW |
8 |
36,270,736 (GRCm39) |
nonsense |
probably null |
|
|
R6545:Gm19410
|
UTSW |
8 |
36,257,652 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6700:Gm19410
|
UTSW |
8 |
36,274,664 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6720:Gm19410
|
UTSW |
8 |
36,274,730 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6795:Gm19410
|
UTSW |
8 |
36,262,676 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6808:Gm19410
|
UTSW |
8 |
36,239,733 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6810:Gm19410
|
UTSW |
8 |
36,239,733 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6811:Gm19410
|
UTSW |
8 |
36,239,733 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6966:Gm19410
|
UTSW |
8 |
36,285,127 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7264:Gm19410
|
UTSW |
8 |
36,252,920 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7267:Gm19410
|
UTSW |
8 |
36,281,997 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7355:Gm19410
|
UTSW |
8 |
36,274,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7423:Gm19410
|
UTSW |
8 |
36,271,761 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7494:Gm19410
|
UTSW |
8 |
36,262,684 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7516:Gm19410
|
UTSW |
8 |
36,263,433 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7517:Gm19410
|
UTSW |
8 |
36,240,772 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R7526:Gm19410
|
UTSW |
8 |
36,257,766 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7527:Gm19410
|
UTSW |
8 |
36,269,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7545:Gm19410
|
UTSW |
8 |
36,269,779 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7549:Gm19410
|
UTSW |
8 |
36,266,500 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7564:Gm19410
|
UTSW |
8 |
36,274,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7615:Gm19410
|
UTSW |
8 |
36,263,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7655:Gm19410
|
UTSW |
8 |
36,276,253 (GRCm39) |
missense |
probably benign |
|
|
R7656:Gm19410
|
UTSW |
8 |
36,276,253 (GRCm39) |
missense |
probably benign |
|
|
R7703:Gm19410
|
UTSW |
8 |
36,266,539 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7750:Gm19410
|
UTSW |
8 |
36,274,652 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7760:Gm19410
|
UTSW |
8 |
36,269,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7837:Gm19410
|
UTSW |
8 |
36,276,134 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7932:Gm19410
|
UTSW |
8 |
36,262,753 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7942:Gm19410
|
UTSW |
8 |
36,238,940 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7970:Gm19410
|
UTSW |
8 |
36,282,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8088:Gm19410
|
UTSW |
8 |
36,273,995 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8228:Gm19410
|
UTSW |
8 |
36,252,992 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8382:Gm19410
|
UTSW |
8 |
36,276,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8757:Gm19410
|
UTSW |
8 |
36,276,119 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8879:Gm19410
|
UTSW |
8 |
36,239,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9010:Gm19410
|
UTSW |
8 |
36,282,011 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9060:Gm19410
|
UTSW |
8 |
36,269,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9088:Gm19410
|
UTSW |
8 |
36,240,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9104:Gm19410
|
UTSW |
8 |
36,247,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9186:Gm19410
|
UTSW |
8 |
36,282,629 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9290:Gm19410
|
UTSW |
8 |
36,269,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9334:Gm19410
|
UTSW |
8 |
36,270,722 (GRCm39) |
nonsense |
probably null |
|
|
R9398:Gm19410
|
UTSW |
8 |
36,272,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9439:Gm19410
|
UTSW |
8 |
36,248,810 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9445:Gm19410
|
UTSW |
8 |
36,239,652 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9511:Gm19410
|
UTSW |
8 |
36,257,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9520:Gm19410
|
UTSW |
8 |
36,262,637 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9523:Gm19410
|
UTSW |
8 |
36,257,608 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9669:Gm19410
|
UTSW |
8 |
36,247,493 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R9711:Gm19410
|
UTSW |
8 |
36,279,493 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9728:Gm19410
|
UTSW |
8 |
36,247,594 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9759:Gm19410
|
UTSW |
8 |
36,252,938 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Z1176:Gm19410
|
UTSW |
8 |
36,259,765 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Z1177:Gm19410
|
UTSW |
8 |
36,276,119 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCTGAAGCTGGAACAAGACA -3'
(R):5'- ATTGCAGGACCTAAGCTTTATCA -3'
Sequencing Primer
(F):5'- AGACATAACAGTCTTCAGGATGTAG -3'
(R):5'- TTGAGGACCACTGATGCAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation