Incidental Mutation 'R6044:Gm973'
| ID |
483689 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm973
|
| Ensembl Gene |
ENSMUSG00000047361 |
| Gene Name |
predicted gene 973 |
| Synonyms |
LOC381260 |
| MMRRC Submission |
044212-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R6044 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
59555423-59675576 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59667393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 718
(L718P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114243]
|
| AlphaFold |
E9Q295 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114243
AA Change: L718P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109881
Gene: ENSMUSG00000047361
AA Change: L718P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
364 |
375 |
N/A |
INTRINSIC |
|
Pfam:DUF4670
|
583 |
1045 |
7.3e-160 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158651
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185753
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187454
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191051
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191158
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
G |
A |
14: 32,382,614 (GRCm39) |
S1117L |
possibly damaging |
Het |
| Adamts20 |
A |
T |
15: 94,180,364 (GRCm39) |
Y1764N |
probably damaging |
Het |
| Adamtsl1 |
A |
T |
4: 86,130,928 (GRCm39) |
D223V |
probably damaging |
Het |
| Agbl1 |
T |
C |
7: 75,967,868 (GRCm39) |
V31A |
possibly damaging |
Het |
| Alk |
T |
C |
17: 72,299,095 (GRCm39) |
H462R |
probably benign |
Het |
| Amt |
A |
T |
9: 108,174,450 (GRCm39) |
T72S |
probably damaging |
Het |
| Atp12a |
T |
A |
14: 56,613,612 (GRCm39) |
D461E |
probably damaging |
Het |
| Bcan |
C |
A |
3: 87,902,950 (GRCm39) |
C276F |
probably damaging |
Het |
| Crispld2 |
T |
C |
8: 120,737,410 (GRCm39) |
S54P |
possibly damaging |
Het |
| Cyp11a1 |
A |
T |
9: 57,933,987 (GRCm39) |
N478I |
probably damaging |
Het |
| Des |
A |
T |
1: 75,340,113 (GRCm39) |
|
probably null |
Het |
| Dnajc6 |
A |
T |
4: 101,473,774 (GRCm39) |
I427F |
probably benign |
Het |
| Eml4 |
T |
G |
17: 83,753,379 (GRCm39) |
L281R |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,839,878 (GRCm39) |
Y2122C |
probably damaging |
Het |
| Fndc11 |
T |
A |
2: 180,863,459 (GRCm39) |
L88Q |
probably damaging |
Het |
| Foxo1 |
A |
G |
3: 52,253,258 (GRCm39) |
M474V |
probably benign |
Het |
| Gap43 |
A |
T |
16: 42,112,550 (GRCm39) |
D70E |
probably benign |
Het |
| Gemin4 |
T |
C |
11: 76,103,760 (GRCm39) |
M334V |
probably benign |
Het |
| Gprin3 |
G |
T |
6: 59,330,657 (GRCm39) |
T550N |
possibly damaging |
Het |
| Hddc3 |
T |
A |
7: 79,993,332 (GRCm39) |
V53E |
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,298,449 (GRCm39) |
D12E |
probably null |
Het |
| Klri2 |
T |
A |
6: 129,717,247 (GRCm39) |
E45D |
probably damaging |
Het |
| Lct |
A |
G |
1: 128,235,717 (GRCm39) |
V430A |
possibly damaging |
Het |
| Mcm8 |
T |
C |
2: 132,673,600 (GRCm39) |
|
probably null |
Het |
| Mmp12 |
A |
G |
9: 7,350,050 (GRCm39) |
T184A |
possibly damaging |
Het |
| Morc3 |
T |
C |
16: 93,663,330 (GRCm39) |
V511A |
probably benign |
Het |
| Mta2 |
T |
C |
19: 8,925,695 (GRCm39) |
Y397H |
probably damaging |
Het |
| Naa50 |
G |
A |
16: 43,979,890 (GRCm39) |
E93K |
possibly damaging |
Het |
| Or14j2 |
G |
A |
17: 37,885,426 (GRCm39) |
T296M |
probably damaging |
Het |
| Or2t26 |
T |
C |
11: 49,039,522 (GRCm39) |
V146A |
probably benign |
Het |
| Or4a77 |
T |
A |
2: 89,487,516 (GRCm39) |
I90F |
probably damaging |
Het |
| Or4c126 |
T |
C |
2: 89,823,761 (GRCm39) |
I8T |
possibly damaging |
Het |
| Or4k40 |
T |
C |
2: 111,250,423 (GRCm39) |
N291S |
probably damaging |
Het |
| Padi4 |
A |
G |
4: 140,475,438 (GRCm39) |
S576P |
possibly damaging |
Het |
| Poglut2 |
A |
T |
1: 44,153,611 (GRCm39) |
L221* |
probably null |
Het |
| Prss47 |
A |
T |
13: 65,197,120 (GRCm39) |
Y111* |
probably null |
Het |
| Ptprm |
A |
G |
17: 67,000,857 (GRCm39) |
V1100A |
probably damaging |
Het |
| Rab11fip3 |
G |
A |
17: 26,286,843 (GRCm39) |
P437S |
possibly damaging |
Het |
| Rsph14 |
C |
T |
10: 74,867,102 (GRCm39) |
D15N |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slco1a1 |
A |
G |
6: 141,885,743 (GRCm39) |
V94A |
probably benign |
Het |
| Smpdl3a |
A |
G |
10: 57,687,358 (GRCm39) |
E362G |
possibly damaging |
Het |
| Sva |
A |
T |
6: 42,017,034 (GRCm39) |
Y47F |
probably benign |
Het |
| Tatdn3 |
A |
G |
1: 190,788,558 (GRCm39) |
|
probably null |
Het |
| Tlcd4 |
A |
T |
3: 121,001,018 (GRCm39) |
I205K |
probably damaging |
Het |
| Tlcd5 |
A |
G |
9: 43,024,903 (GRCm39) |
S18P |
probably benign |
Het |
| Tmem131 |
G |
A |
1: 36,920,422 (GRCm39) |
Q93* |
probably null |
Het |
| Trpm7 |
T |
C |
2: 126,656,665 (GRCm39) |
E1184G |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,693,202 (GRCm39) |
I1735V |
probably benign |
Het |
| Usp40 |
A |
T |
1: 87,917,872 (GRCm39) |
I325K |
probably benign |
Het |
| Vmn2r27 |
T |
G |
6: 124,208,731 (GRCm39) |
I5L |
probably benign |
Het |
| Wee1 |
C |
T |
7: 109,738,513 (GRCm39) |
T542I |
probably benign |
Het |
| Wrn |
G |
A |
8: 33,726,457 (GRCm39) |
P1129S |
probably damaging |
Het |
| Zfyve16 |
G |
A |
13: 92,659,174 (GRCm39) |
Q246* |
probably null |
Het |
|
| Other mutations in Gm973 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01359:Gm973
|
APN |
1 |
59,669,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01732:Gm973
|
APN |
1 |
59,669,396 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02124:Gm973
|
APN |
1 |
59,621,632 (GRCm39) |
nonsense |
probably null |
|
|
IGL02251:Gm973
|
APN |
1 |
59,621,582 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02818:Gm973
|
APN |
1 |
59,580,634 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03385:Gm973
|
APN |
1 |
59,621,629 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0105:Gm973
|
UTSW |
1 |
59,621,633 (GRCm39) |
missense |
probably null |
0.60 |
|
R0105:Gm973
|
UTSW |
1 |
59,621,633 (GRCm39) |
missense |
probably null |
0.60 |
|
R0280:Gm973
|
UTSW |
1 |
59,583,839 (GRCm39) |
frame shift |
probably null |
|
|
R0490:Gm973
|
UTSW |
1 |
59,597,393 (GRCm39) |
splice site |
probably benign |
|
|
R0491:Gm973
|
UTSW |
1 |
59,597,393 (GRCm39) |
splice site |
probably benign |
|
|
R0508:Gm973
|
UTSW |
1 |
59,621,649 (GRCm39) |
splice site |
probably benign |
|
|
R0636:Gm973
|
UTSW |
1 |
59,590,303 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0709:Gm973
|
UTSW |
1 |
59,597,393 (GRCm39) |
splice site |
probably benign |
|
|
R0900:Gm973
|
UTSW |
1 |
59,605,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1758:Gm973
|
UTSW |
1 |
59,673,169 (GRCm39) |
missense |
unknown |
|
|
R1816:Gm973
|
UTSW |
1 |
59,621,558 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1975:Gm973
|
UTSW |
1 |
59,601,930 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2166:Gm973
|
UTSW |
1 |
59,565,898 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3052:Gm973
|
UTSW |
1 |
59,672,299 (GRCm39) |
splice site |
probably benign |
|
|
R3899:Gm973
|
UTSW |
1 |
59,664,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4181:Gm973
|
UTSW |
1 |
59,590,399 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4302:Gm973
|
UTSW |
1 |
59,590,399 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4623:Gm973
|
UTSW |
1 |
59,595,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4642:Gm973
|
UTSW |
1 |
59,597,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Gm973
|
UTSW |
1 |
59,591,713 (GRCm39) |
nonsense |
probably null |
|
|
R4920:Gm973
|
UTSW |
1 |
59,666,725 (GRCm39) |
missense |
probably benign |
|
|
R4951:Gm973
|
UTSW |
1 |
59,580,633 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5214:Gm973
|
UTSW |
1 |
59,565,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5225:Gm973
|
UTSW |
1 |
59,601,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5472:Gm973
|
UTSW |
1 |
59,667,446 (GRCm39) |
splice site |
probably null |
|
|
R5554:Gm973
|
UTSW |
1 |
59,566,131 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5709:Gm973
|
UTSW |
1 |
59,591,714 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5886:Gm973
|
UTSW |
1 |
59,597,409 (GRCm39) |
intron |
probably benign |
|
|
R6046:Gm973
|
UTSW |
1 |
59,671,509 (GRCm39) |
missense |
unknown |
|
|
R6818:Gm973
|
UTSW |
1 |
59,669,328 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6920:Gm973
|
UTSW |
1 |
59,591,620 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6999:Gm973
|
UTSW |
1 |
59,673,251 (GRCm39) |
missense |
unknown |
|
|
R7214:Gm973
|
UTSW |
1 |
59,601,888 (GRCm39) |
nonsense |
probably null |
|
|
R7418:Gm973
|
UTSW |
1 |
59,565,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7780:Gm973
|
UTSW |
1 |
59,597,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8834:Gm973
|
UTSW |
1 |
59,563,820 (GRCm39) |
missense |
|
|
|
R9083:Gm973
|
UTSW |
1 |
59,675,317 (GRCm39) |
missense |
|
|
|
R9206:Gm973
|
UTSW |
1 |
59,591,585 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9297:Gm973
|
UTSW |
1 |
59,583,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9519:Gm973
|
UTSW |
1 |
59,580,611 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9701:Gm973
|
UTSW |
1 |
59,566,032 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Z1176:Gm973
|
UTSW |
1 |
59,563,761 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Gm973
|
UTSW |
1 |
59,580,489 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGCTTCAAGCTCTGCAGAC -3'
(R):5'- ACCTCCTTGCCTGTCAGGATAC -3'
Sequencing Primer
(F):5'- GCTCTGCAGACCATGACTTAAC -3'
(R):5'- TGGGGATGAGATCCAAGTC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation