Incidental Mutation 'R7706:Gm7298'
| ID |
594277 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm7298
|
| Ensembl Gene |
ENSMUSG00000108022 |
| Gene Name |
predicted gene 7298 |
| Synonyms |
|
| MMRRC Submission |
045767-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.235)
|
| Stock # |
R7706 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
121711454-121761598 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121712570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 127
(S127R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145242
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000204124]
|
| AlphaFold |
A0A0N4SVU1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204124
AA Change: S127R
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000145242
Gene: ENSMUSG00000108022
AA Change: S127R
| 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 |
0.2483 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600014C23Rik |
G |
A |
17: 46,044,583 (GRCm39) |
T46I |
unknown |
Het |
| Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
| Atxn7l2 |
T |
C |
3: 108,114,719 (GRCm39) |
D109G |
probably damaging |
Het |
| B4galnt3 |
C |
A |
6: 120,195,913 (GRCm39) |
V305L |
probably benign |
Het |
| C9 |
T |
A |
15: 6,488,402 (GRCm39) |
N85K |
probably benign |
Het |
| Cacna1g |
T |
C |
11: 94,305,867 (GRCm39) |
I1941V |
probably benign |
Het |
| Capn15 |
A |
G |
17: 26,183,125 (GRCm39) |
V518A |
probably benign |
Het |
| Chst10 |
A |
T |
1: 38,905,106 (GRCm39) |
Y200N |
probably damaging |
Het |
| Ciao3 |
T |
C |
17: 26,001,226 (GRCm39) |
*493Q |
probably null |
Het |
| Cir1 |
A |
G |
2: 73,142,823 (GRCm39) |
S4P |
probably damaging |
Het |
| Cish |
G |
A |
9: 107,177,840 (GRCm39) |
R172Q |
probably benign |
Het |
| Cnot10 |
A |
T |
9: 114,422,506 (GRCm39) |
N693K |
probably damaging |
Het |
| Ddx6 |
A |
G |
9: 44,538,939 (GRCm39) |
D249G |
probably damaging |
Het |
| Dennd6b |
T |
C |
15: 89,069,447 (GRCm39) |
D528G |
probably benign |
Het |
| Dmtf1 |
T |
A |
5: 9,174,489 (GRCm39) |
T484S |
possibly damaging |
Het |
| Dnaaf5 |
T |
C |
5: 139,138,596 (GRCm39) |
V259A |
probably damaging |
Het |
| Dzip1l |
A |
T |
9: 99,519,589 (GRCm39) |
S39C |
probably damaging |
Het |
| Efcab8 |
T |
A |
2: 153,623,695 (GRCm39) |
M60K |
|
Het |
| Eml2 |
T |
A |
7: 18,920,035 (GRCm39) |
V113D |
possibly damaging |
Het |
| Fnip1 |
A |
T |
11: 54,406,325 (GRCm39) |
I1141F |
probably benign |
Het |
| Hcn2 |
G |
A |
10: 79,570,017 (GRCm39) |
R622Q |
possibly damaging |
Het |
| Ift172 |
C |
T |
5: 31,423,723 (GRCm39) |
W746* |
probably null |
Het |
| Irs1 |
A |
G |
1: 82,265,412 (GRCm39) |
Y935H |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Klhl20 |
T |
C |
1: 160,936,827 (GRCm39) |
I183V |
probably benign |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lalba |
T |
C |
15: 98,379,474 (GRCm39) |
D103G |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,747,210 (GRCm39) |
L822P |
probably damaging |
Het |
| Lrrc38 |
G |
A |
4: 143,076,845 (GRCm39) |
C36Y |
probably damaging |
Het |
| Ly6e |
T |
C |
15: 74,830,183 (GRCm39) |
S46P |
possibly damaging |
Het |
| Nav2 |
T |
C |
7: 49,244,067 (GRCm39) |
I2098T |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,381,010 (GRCm39) |
E594G |
probably benign |
Het |
| Or52k2 |
T |
A |
7: 102,253,853 (GRCm39) |
H97Q |
probably benign |
Het |
| Parn |
T |
C |
16: 13,425,117 (GRCm39) |
D432G |
probably damaging |
Het |
| Pcdh20 |
A |
G |
14: 88,704,793 (GRCm39) |
S836P |
probably damaging |
Het |
| Pcmtd2 |
C |
T |
2: 181,496,868 (GRCm39) |
R282C |
probably damaging |
Het |
| Ppp2r3c |
A |
G |
12: 55,328,490 (GRCm39) |
I425T |
probably benign |
Het |
| Samm50 |
T |
A |
15: 84,085,081 (GRCm39) |
|
probably null |
Het |
| Sars1 |
C |
T |
3: 108,338,780 (GRCm39) |
|
probably null |
Het |
| Senp8 |
A |
G |
9: 59,645,121 (GRCm39) |
Y12H |
possibly damaging |
Het |
| Slc13a4 |
T |
C |
6: 35,247,290 (GRCm39) |
I577V |
possibly damaging |
Het |
| Srr |
T |
G |
11: 74,803,961 (GRCm39) |
|
probably null |
Het |
| Steap2 |
T |
A |
5: 5,732,967 (GRCm39) |
N19I |
possibly damaging |
Het |
| Sucla2 |
A |
G |
14: 73,806,433 (GRCm39) |
Y168C |
probably damaging |
Het |
| Tha1 |
T |
C |
11: 117,760,281 (GRCm39) |
Q275R |
probably damaging |
Het |
| Trim56 |
T |
C |
5: 137,143,510 (GRCm39) |
N2S |
probably benign |
Het |
| Tubgcp6 |
T |
A |
15: 88,988,426 (GRCm39) |
H849L |
probably benign |
Het |
| Uevld |
A |
G |
7: 46,597,775 (GRCm39) |
I72T |
possibly damaging |
Het |
| Ybx1 |
A |
G |
4: 119,136,164 (GRCm39) |
*323Q |
probably null |
Het |
| Zfp354b |
C |
T |
11: 50,819,390 (GRCm39) |
|
probably null |
Het |
| Zfp36l2 |
A |
T |
17: 84,494,346 (GRCm39) |
L97Q |
probably benign |
Het |
| Zfp729a |
T |
A |
13: 67,771,612 (GRCm39) |
R78S |
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 |
|
R6801:Gm7298
|
UTSW |
6 |
121,752,768 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
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'- CTTTCCTGTGAGGTGAAAGGAAAG -3'
(R):5'- ACTCACCAACTCATTCAGGGG -3'
Sequencing Primer
(F):5'- CTGTGAGGTGAAAGGAAAGACTAATG -3'
(R):5'- CAACTCATTCAGGGGGCGTAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation