Incidental Mutation 'R6801:Gm7298'
| ID |
533337 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm7298
|
| Ensembl Gene |
ENSMUSG00000108022 |
| Gene Name |
predicted gene 7298 |
| Synonyms |
|
| MMRRC Submission |
044914-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.235)
|
| Stock # |
R6801 (G1)
|
| Quality Score |
120.008 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
121711454-121761598 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121752768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 837
(T837A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145242
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000204124]
|
| AlphaFold |
A0A0N4SVU1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204124
AA Change: T837A
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000145242
Gene: ENSMUSG00000108022
AA Change: T837A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:A2M_N
|
128 |
221 |
4e-18 |
PFAM |
|
A2M_N_2
|
449 |
599 |
1e-45 |
SMART |
|
A2M
|
740 |
830 |
2.1e-39 |
SMART |
|
Pfam:Thiol-ester_cl
|
963 |
992 |
1.9e-15 |
PFAM |
|
Pfam:A2M_comp
|
1012 |
1268 |
1.6e-90 |
PFAM |
|
A2M_recep
|
1378 |
1465 |
4.3e-42 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.8%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
A |
8: 25,174,680 (GRCm39) |
Y695F |
possibly damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,759,892 (GRCm39) |
D545G |
probably damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,643,159 (GRCm39) |
E1457G |
possibly damaging |
Het |
| Atp2b4 |
T |
A |
1: 133,655,524 (GRCm39) |
I747F |
probably damaging |
Het |
| Bche |
T |
A |
3: 73,609,133 (GRCm39) |
I98L |
probably benign |
Het |
| C2cd6 |
TC |
T |
1: 59,133,742 (GRCm39) |
|
probably null |
Het |
| Ccdc90b |
A |
G |
7: 92,216,943 (GRCm39) |
T72A |
probably benign |
Het |
| Chrd |
A |
G |
16: 20,554,497 (GRCm39) |
E352G |
possibly damaging |
Het |
| Csmd2 |
A |
G |
4: 128,277,743 (GRCm39) |
E953G |
probably benign |
Het |
| Dchs2 |
T |
A |
3: 83,035,841 (GRCm39) |
M196K |
probably benign |
Het |
| Ddx10 |
G |
A |
9: 53,159,207 (GRCm39) |
Q33* |
probably null |
Het |
| Dennd4b |
T |
A |
3: 90,176,086 (GRCm39) |
V201E |
probably damaging |
Het |
| Fbn2 |
T |
A |
18: 58,246,420 (GRCm39) |
H494L |
probably benign |
Het |
| Fbxw13 |
G |
A |
9: 109,023,795 (GRCm39) |
A83V |
probably null |
Het |
| Fxr1 |
A |
G |
3: 34,108,452 (GRCm39) |
D321G |
possibly damaging |
Het |
| Galm |
A |
G |
17: 80,489,053 (GRCm39) |
H233R |
probably benign |
Het |
| Gmppa |
C |
G |
1: 75,418,391 (GRCm39) |
S258C |
possibly damaging |
Het |
| Hk1 |
T |
G |
10: 62,116,910 (GRCm39) |
E645A |
probably damaging |
Het |
| Igkv1-132 |
A |
G |
6: 67,737,324 (GRCm39) |
T97A |
probably damaging |
Het |
| Kcnc1 |
T |
C |
7: 46,084,716 (GRCm39) |
F547L |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lingo2 |
T |
A |
4: 35,709,566 (GRCm39) |
E138V |
probably damaging |
Het |
| Myb |
T |
C |
10: 21,020,865 (GRCm39) |
|
probably null |
Het |
| Mybl1 |
A |
G |
1: 9,753,353 (GRCm39) |
V243A |
probably benign |
Het |
| Mylk4 |
C |
T |
13: 32,912,393 (GRCm39) |
S189N |
probably benign |
Het |
| Or13c7 |
T |
A |
4: 43,855,206 (GRCm39) |
L299* |
probably null |
Het |
| Or2y16 |
A |
G |
11: 49,335,169 (GRCm39) |
M164V |
probably benign |
Het |
| Or4k77 |
A |
T |
2: 111,199,394 (GRCm39) |
Q139L |
probably benign |
Het |
| Or4x12-ps1 |
A |
T |
2: 89,915,953 (GRCm39) |
I284N |
probably damaging |
Het |
| Or5w1b |
A |
G |
2: 87,475,667 (GRCm39) |
Y267H |
probably benign |
Het |
| Or8g19 |
A |
T |
9: 39,055,506 (GRCm39) |
I37F |
probably benign |
Het |
| Oxld1 |
A |
T |
11: 120,347,650 (GRCm39) |
D182E |
probably damaging |
Het |
| Phf13 |
A |
T |
4: 152,076,017 (GRCm39) |
L295Q |
probably damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Prss33 |
A |
G |
17: 24,053,813 (GRCm39) |
L88P |
possibly damaging |
Het |
| Ralgds |
A |
G |
2: 28,438,448 (GRCm39) |
Y596C |
probably damaging |
Het |
| Rftn2 |
A |
G |
1: 55,233,418 (GRCm39) |
I379T |
possibly damaging |
Het |
| Rnf214 |
C |
T |
9: 45,807,403 (GRCm39) |
E267K |
probably damaging |
Het |
| Rpp14 |
T |
C |
14: 8,083,717 (GRCm38) |
|
probably benign |
Het |
| Rpusd2 |
A |
G |
2: 118,865,876 (GRCm39) |
Y191C |
probably damaging |
Het |
| Serpinb9c |
T |
A |
13: 33,341,807 (GRCm39) |
M1L |
probably benign |
Het |
| Shroom3 |
A |
G |
5: 93,088,795 (GRCm39) |
D434G |
probably damaging |
Het |
| Smc5 |
G |
A |
19: 23,192,010 (GRCm39) |
S888L |
probably benign |
Het |
| Suv39h2 |
C |
T |
2: 3,465,458 (GRCm39) |
R299K |
probably benign |
Het |
| Trappc4 |
A |
T |
9: 44,315,685 (GRCm39) |
I176N |
probably damaging |
Het |
| Trim12c |
A |
T |
7: 103,997,337 (GRCm39) |
V73E |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
|
| Other mutations in Gm7298 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0030:Gm7298
|
UTSW |
6 |
121,751,009 (GRCm39) |
missense |
probably benign |
|
|
R4978:Gm7298
|
UTSW |
6 |
121,710,076 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4980:Gm7298
|
UTSW |
6 |
121,736,198 (GRCm39) |
splice site |
probably null |
|
|
R6000:Gm7298
|
UTSW |
6 |
121,742,038 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6160:Gm7298
|
UTSW |
6 |
121,741,886 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6180:Gm7298
|
UTSW |
6 |
121,737,782 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6243:Gm7298
|
UTSW |
6 |
121,756,096 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6266:Gm7298
|
UTSW |
6 |
121,759,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6268:Gm7298
|
UTSW |
6 |
121,756,032 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6363:Gm7298
|
UTSW |
6 |
121,765,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Gm7298
|
UTSW |
6 |
121,756,402 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6527:Gm7298
|
UTSW |
6 |
121,746,669 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6538:Gm7298
|
UTSW |
6 |
121,753,132 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6884:Gm7298
|
UTSW |
6 |
121,737,480 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6935:Gm7298
|
UTSW |
6 |
121,744,653 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7051:Gm7298
|
UTSW |
6 |
121,751,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7144:Gm7298
|
UTSW |
6 |
121,738,546 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7178:Gm7298
|
UTSW |
6 |
121,762,855 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7398:Gm7298
|
UTSW |
6 |
121,758,912 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7706:Gm7298
|
UTSW |
6 |
121,712,570 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7793:Gm7298
|
UTSW |
6 |
121,737,563 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7829:Gm7298
|
UTSW |
6 |
121,742,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7877:Gm7298
|
UTSW |
6 |
121,759,741 (GRCm39) |
nonsense |
probably null |
|
|
R8010:Gm7298
|
UTSW |
6 |
121,712,542 (GRCm39) |
missense |
probably benign |
|
|
R8167:Gm7298
|
UTSW |
6 |
121,761,414 (GRCm39) |
nonsense |
probably null |
|
|
R8188:Gm7298
|
UTSW |
6 |
121,763,537 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8248:Gm7298
|
UTSW |
6 |
121,764,402 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8669:Gm7298
|
UTSW |
6 |
121,742,002 (GRCm39) |
missense |
probably benign |
|
|
R8806:Gm7298
|
UTSW |
6 |
121,761,641 (GRCm39) |
synonymous |
silent |
|
|
R8867:Gm7298
|
UTSW |
6 |
121,748,788 (GRCm39) |
missense |
probably benign |
|
|
R8907:Gm7298
|
UTSW |
6 |
121,741,817 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8930:Gm7298
|
UTSW |
6 |
121,742,030 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8932:Gm7298
|
UTSW |
6 |
121,742,030 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8947:Gm7298
|
UTSW |
6 |
121,757,553 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9016:Gm7298
|
UTSW |
6 |
121,758,800 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9040:Gm7298
|
UTSW |
6 |
121,764,438 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9069:Gm7298
|
UTSW |
6 |
121,761,393 (GRCm39) |
missense |
probably benign |
|
|
R9154:Gm7298
|
UTSW |
6 |
121,756,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9273:Gm7298
|
UTSW |
6 |
121,756,604 (GRCm39) |
intron |
probably benign |
|
|
R9371:Gm7298
|
UTSW |
6 |
121,744,541 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9372:Gm7298
|
UTSW |
6 |
121,748,746 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9490:Gm7298
|
UTSW |
6 |
121,751,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9649:Gm7298
|
UTSW |
6 |
121,764,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Gm7298
|
UTSW |
6 |
121,741,834 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Z1176:Gm7298
|
UTSW |
6 |
121,741,829 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAAGCCTTCTGTGTCAACTTAC -3'
(R):5'- TGACTGGGAGCTTCCTCTTG -3'
Sequencing Primer
(F):5'- AAGCCTTCTGTGTCAACTTACATGAC -3'
(R):5'- AGGATGAGGTGTACCTCT -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation