Incidental Mutation 'R7703:Gm19410'
ID |
594123 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm19410
|
Ensembl Gene |
ENSMUSG00000109372 |
Gene Name |
predicted gene, 19410 |
Synonyms |
|
MMRRC Submission |
045764-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.145)
|
Stock # |
R7703 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
36232944-36285201 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36266539 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 1064
(E1064G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147162
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207505]
|
AlphaFold |
A0A140LJC7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207505
AA Change: E1064G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810065E05Rik |
T |
C |
11: 58,316,593 (GRCm39) |
I191T |
probably damaging |
Het |
2310003L06Rik |
T |
C |
5: 88,120,671 (GRCm39) |
L476P |
possibly damaging |
Het |
Aasdh |
T |
C |
5: 77,035,924 (GRCm39) |
D387G |
probably damaging |
Het |
Ahsa2 |
T |
A |
11: 23,440,415 (GRCm39) |
T327S |
probably benign |
Het |
Ap3d1 |
A |
T |
10: 80,553,678 (GRCm39) |
V523E |
probably damaging |
Het |
Baz2b |
C |
A |
2: 59,747,769 (GRCm39) |
R1298L |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 28,765,503 (GRCm39) |
T802A |
possibly damaging |
Het |
Cdh23 |
G |
T |
10: 60,173,043 (GRCm39) |
T1714K |
probably damaging |
Het |
Chrna3 |
A |
T |
9: 54,923,408 (GRCm39) |
D133E |
probably benign |
Het |
Cnot1 |
C |
T |
8: 96,486,726 (GRCm39) |
|
probably null |
Het |
Col16a1 |
A |
T |
4: 129,990,295 (GRCm39) |
N1396Y |
unknown |
Het |
Cox11 |
A |
G |
11: 90,529,245 (GRCm39) |
N77S |
probably benign |
Het |
Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
Cytip |
A |
G |
2: 58,037,920 (GRCm39) |
V148A |
probably damaging |
Het |
Diaph1 |
T |
C |
18: 38,023,862 (GRCm39) |
I659V |
unknown |
Het |
Dmxl2 |
A |
T |
9: 54,368,370 (GRCm39) |
M26K |
probably benign |
Het |
Erp44 |
T |
A |
4: 48,196,904 (GRCm39) |
I340F |
probably benign |
Het |
Fam186a |
A |
G |
15: 99,852,678 (GRCm39) |
M180T |
unknown |
Het |
Frem2 |
C |
T |
3: 53,429,589 (GRCm39) |
V2793I |
probably benign |
Het |
Gria4 |
T |
C |
9: 4,503,588 (GRCm39) |
I343V |
probably benign |
Het |
Grsf1 |
T |
A |
5: 88,819,150 (GRCm39) |
N228Y |
probably damaging |
Het |
H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
Ighv1-18 |
A |
T |
12: 114,646,381 (GRCm39) |
N74K |
probably benign |
Het |
Kcnh6 |
A |
T |
11: 105,914,703 (GRCm39) |
T703S |
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,000,798 (GRCm39) |
D2256V |
|
Het |
Lrrc63 |
T |
C |
14: 75,360,447 (GRCm39) |
T352A |
possibly damaging |
Het |
Lztfl1 |
T |
C |
9: 123,531,194 (GRCm39) |
E258G |
probably damaging |
Het |
Mcph1 |
T |
C |
8: 18,721,122 (GRCm39) |
I650T |
possibly damaging |
Het |
Mep1a |
T |
C |
17: 43,788,997 (GRCm39) |
D606G |
possibly damaging |
Het |
Muc16 |
T |
C |
9: 18,516,578 (GRCm39) |
I313M |
|
Het |
Myh7b |
A |
G |
2: 155,462,356 (GRCm39) |
Y353C |
probably null |
Het |
Nfatc1 |
A |
G |
18: 80,725,504 (GRCm39) |
L420P |
probably damaging |
Het |
Olfml1 |
A |
G |
7: 107,170,392 (GRCm39) |
E93G |
probably damaging |
Het |
Or6b1 |
A |
T |
6: 42,814,938 (GRCm39) |
E41V |
probably damaging |
Het |
Or8c11 |
A |
G |
9: 38,289,357 (GRCm39) |
H54R |
probably benign |
Het |
Pax1 |
A |
T |
2: 147,208,034 (GRCm39) |
N214I |
probably damaging |
Het |
Pcdhb17 |
C |
A |
18: 37,619,801 (GRCm39) |
H530Q |
probably benign |
Het |
Pcdhgb7 |
A |
T |
18: 37,885,321 (GRCm39) |
M164L |
probably benign |
Het |
Pcolce |
T |
C |
5: 137,603,474 (GRCm39) |
N453S |
probably benign |
Het |
Prr36 |
T |
C |
8: 4,262,982 (GRCm39) |
T895A |
probably benign |
Het |
Ptprq |
C |
T |
10: 107,480,007 (GRCm39) |
V1088I |
probably benign |
Het |
Rab5a |
T |
A |
17: 53,807,485 (GRCm39) |
F174I |
probably damaging |
Het |
Rapgef4 |
A |
G |
2: 72,010,315 (GRCm39) |
D291G |
probably benign |
Het |
Rbm25 |
A |
T |
12: 83,721,864 (GRCm39) |
K683N |
possibly damaging |
Het |
Rbpj |
T |
C |
5: 53,803,240 (GRCm39) |
I156T |
probably damaging |
Het |
Rgsl1 |
A |
G |
1: 153,669,610 (GRCm39) |
S259P |
possibly damaging |
Het |
Ring1 |
T |
C |
17: 34,242,109 (GRCm39) |
D100G |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,690,110 (GRCm39) |
D1166E |
probably damaging |
Het |
Sacs |
A |
G |
14: 61,443,539 (GRCm39) |
K1862E |
possibly damaging |
Het |
Scamp5 |
A |
G |
9: 57,354,465 (GRCm39) |
I63T |
possibly damaging |
Het |
Septin14 |
C |
T |
5: 129,763,092 (GRCm39) |
A334T |
possibly damaging |
Het |
Sh3rf2 |
A |
T |
18: 42,289,201 (GRCm39) |
Q706L |
probably benign |
Het |
Skap2 |
A |
T |
6: 51,884,934 (GRCm39) |
H242Q |
probably benign |
Het |
Spmap2l |
T |
C |
5: 77,164,444 (GRCm39) |
I149T |
probably benign |
Het |
Tfpt |
A |
G |
7: 3,623,744 (GRCm39) |
|
probably null |
Het |
Thg1l |
T |
G |
11: 45,846,120 (GRCm39) |
D58A |
probably damaging |
Het |
Thyn1 |
A |
G |
9: 26,918,143 (GRCm39) |
E177G |
probably benign |
Het |
Tmem151b |
C |
T |
17: 45,856,724 (GRCm39) |
A239T |
probably damaging |
Het |
Ttc21a |
T |
C |
9: 119,788,095 (GRCm39) |
V840A |
probably benign |
Het |
Usp32 |
A |
T |
11: 84,968,153 (GRCm39) |
V170E |
probably damaging |
Het |
Vmn2r29 |
A |
G |
7: 7,234,864 (GRCm39) |
V674A |
probably benign |
Het |
Vwa8 |
A |
G |
14: 79,263,513 (GRCm39) |
N781S |
probably damaging |
Het |
Zbtb7c |
C |
A |
18: 76,270,433 (GRCm39) |
Q174K |
probably benign |
Het |
Zeb1 |
T |
C |
18: 5,766,917 (GRCm39) |
I476T |
probably benign |
Het |
Zfp91 |
A |
T |
19: 12,754,241 (GRCm39) |
D282E |
probably benign |
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 |
R7622:Gm19410
|
UTSW |
8 |
36,277,501 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7655:Gm19410
|
UTSW |
8 |
36,276,253 (GRCm39) |
missense |
probably benign |
|
R7656:Gm19410
|
UTSW |
8 |
36,276,253 (GRCm39) |
missense |
probably benign |
|
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'- TCAATGTGAGAATGGCCAATGC -3'
(R):5'- GTGACTGAGAACCACAGTTAGC -3'
Sequencing Primer
(F):5'- GTGAGAATGGCCAATGCATATCTTC -3'
(R):5'- GATGGAATCTTTACCATGCATGCACC -3'
|
Posted On |
2019-11-12 |