Incidental Mutation 'R5788:Gm4787'
| ID |
448171 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4787
|
| Ensembl Gene |
ENSMUSG00000072974 |
| Gene Name |
predicted gene 4787 |
| Synonyms |
|
| MMRRC Submission |
043382-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R5788 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
81376991-81379464 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 81377830 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 518
(T518S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062182]
[ENSMUST00000110340]
[ENSMUST00000164386]
[ENSMUST00000166723]
|
| AlphaFold |
B2RUD9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062182
AA Change: T518S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: T518S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
46 |
163 |
1.5e-19 |
PFAM |
|
Pfam:Reprolysin
|
213 |
406 |
4.6e-18 |
PFAM |
|
DISIN
|
425 |
500 |
2e-33 |
SMART |
|
ACR
|
501 |
644 |
2.83e-53 |
SMART |
|
transmembrane domain
|
714 |
736 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000087222
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110340
|
| SMART Domains |
Protein: ENSMUSP00000105969
Gene: ENSMUSG00000091803
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX16
|
16 |
74 |
6.6e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164386
|
| SMART Domains |
Protein: ENSMUSP00000132941
Gene: ENSMUSG00000021139
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
21 |
100 |
6.16e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166723
|
| SMART Domains |
Protein: ENSMUSP00000130935
Gene: ENSMUSG00000091803
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX16
|
16 |
73 |
6.9e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
98% (62/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
A |
G |
7: 131,443,599 (GRCm38) |
Y420C |
probably benign |
Het |
| Acot11 |
C |
T |
4: 106,760,130 (GRCm38) |
G240R |
probably damaging |
Het |
| Amfr |
T |
A |
8: 94,000,314 (GRCm38) |
R90S |
probably damaging |
Het |
| Ankrd60 |
TGGCCACGCGG |
TGG |
2: 173,578,089 (GRCm38) |
|
probably null |
Het |
| Ano5 |
G |
A |
7: 51,566,318 (GRCm38) |
D348N |
possibly damaging |
Het |
| Atp8a2 |
T |
A |
14: 60,020,793 (GRCm38) |
D440V |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,286,352 (GRCm38) |
D2022G |
probably damaging |
Het |
| Bicd1 |
T |
C |
6: 149,484,000 (GRCm38) |
F77S |
probably benign |
Het |
| Ccdc66 |
C |
T |
14: 27,498,491 (GRCm38) |
R255H |
probably benign |
Het |
| Ckm |
A |
G |
7: 19,419,447 (GRCm38) |
D152G |
probably benign |
Het |
| Cpsf7 |
T |
G |
19: 10,540,718 (GRCm38) |
S431A |
possibly damaging |
Het |
| Csmd1 |
T |
C |
8: 16,201,966 (GRCm38) |
T959A |
probably damaging |
Het |
| Dkk4 |
T |
C |
8: 22,625,331 (GRCm38) |
C66R |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,324,030 (GRCm38) |
W2058R |
probably damaging |
Het |
| Evi5l |
A |
T |
8: 4,206,800 (GRCm38) |
|
probably benign |
Het |
| Fancg |
A |
T |
4: 43,007,130 (GRCm38) |
|
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,200,989 (GRCm38) |
H108L |
probably benign |
Het |
| Fzd2 |
A |
T |
11: 102,605,467 (GRCm38) |
T246S |
probably benign |
Het |
| Gm10428 |
T |
G |
11: 62,753,281 (GRCm38) |
|
probably benign |
Het |
| Gm1988 |
T |
A |
7: 39,172,203 (GRCm38) |
|
noncoding transcript |
Het |
| Gm7133 |
A |
T |
1: 97,243,476 (GRCm38) |
|
noncoding transcript |
Het |
| Grin2b |
T |
C |
6: 135,740,964 (GRCm38) |
N710S |
probably benign |
Het |
| Hcn2 |
T |
C |
10: 79,717,111 (GRCm38) |
V148A |
possibly damaging |
Het |
| Hephl1 |
A |
G |
9: 15,084,283 (GRCm38) |
L483S |
possibly damaging |
Het |
| Hinfp |
C |
T |
9: 44,297,808 (GRCm38) |
E338K |
possibly damaging |
Het |
| Hsd17b4 |
G |
A |
18: 50,173,709 (GRCm38) |
D494N |
probably damaging |
Het |
| Ipo4 |
C |
T |
14: 55,628,820 (GRCm38) |
V801M |
probably benign |
Het |
| Kcns2 |
A |
C |
15: 34,838,854 (GRCm38) |
Y121S |
probably benign |
Het |
| Kif1c |
T |
A |
11: 70,708,828 (GRCm38) |
L462H |
probably damaging |
Het |
| Lrrk2 |
T |
G |
15: 91,764,648 (GRCm38) |
V1615G |
possibly damaging |
Het |
| Naca |
G |
A |
10: 128,040,142 (GRCm38) |
|
probably benign |
Het |
| Naip6 |
G |
T |
13: 100,300,216 (GRCm38) |
Q600K |
probably benign |
Het |
| Ndufs2 |
A |
G |
1: 171,239,385 (GRCm38) |
Y135H |
probably damaging |
Het |
| Nwd2 |
T |
C |
5: 63,807,771 (GRCm38) |
V1566A |
probably benign |
Het |
| Olfr1102 |
A |
G |
2: 87,002,301 (GRCm38) |
T111A |
probably benign |
Het |
| Olfr503 |
T |
C |
7: 108,545,344 (GRCm38) |
I271T |
probably damaging |
Het |
| Olfr607 |
C |
T |
7: 103,460,879 (GRCm38) |
V110I |
possibly damaging |
Het |
| Olfr790 |
A |
G |
10: 129,500,910 (GRCm38) |
M1V |
probably null |
Het |
| Olfr790 |
A |
T |
10: 129,500,894 (GRCm38) |
L3F |
probably benign |
Het |
| Pcid2 |
C |
T |
8: 13,100,320 (GRCm38) |
|
probably null |
Het |
| Pld4 |
A |
C |
12: 112,764,117 (GRCm38) |
I145L |
probably benign |
Het |
| Pogk |
A |
T |
1: 166,409,011 (GRCm38) |
|
probably benign |
Het |
| Rhbg |
C |
T |
3: 88,245,567 (GRCm38) |
V280I |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,468,999 (GRCm38) |
L57F |
probably damaging |
Het |
| Rxfp3 |
A |
G |
15: 11,036,164 (GRCm38) |
F374S |
possibly damaging |
Het |
| Son |
A |
G |
16: 91,660,052 (GRCm38) |
|
probably benign |
Het |
| Specc1l |
G |
T |
10: 75,276,921 (GRCm38) |
R994L |
probably damaging |
Het |
| Tas2r135 |
T |
A |
6: 42,405,597 (GRCm38) |
D23E |
probably damaging |
Het |
| Teddm2 |
A |
T |
1: 153,851,064 (GRCm38) |
H21Q |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,839,958 (GRCm38) |
T780A |
possibly damaging |
Het |
| Thbs1 |
T |
A |
2: 118,122,508 (GRCm38) |
D866E |
probably damaging |
Het |
| Tmed4 |
A |
G |
11: 6,271,743 (GRCm38) |
W198R |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,919,231 (GRCm38) |
C3825S |
probably benign |
Het |
| Uchl1 |
T |
A |
5: 66,676,411 (GRCm38) |
|
probably benign |
Het |
| Wsb2 |
A |
G |
5: 117,377,418 (GRCm38) |
T363A |
possibly damaging |
Het |
| Zfp266 |
A |
G |
9: 20,506,036 (GRCm38) |
Y19H |
probably damaging |
Het |
| Zkscan17 |
A |
G |
11: 59,487,260 (GRCm38) |
C366R |
probably damaging |
Het |
|
| Other mutations in Gm4787 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01719:Gm4787
|
APN |
12 |
81,377,174 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL01916:Gm4787
|
APN |
12 |
81,377,444 (GRCm38) |
missense |
probably benign |
0.36 |
|
IGL02193:Gm4787
|
APN |
12 |
81,378,528 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02623:Gm4787
|
APN |
12 |
81,378,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02681:Gm4787
|
APN |
12 |
81,378,769 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL03257:Gm4787
|
APN |
12 |
81,378,052 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03410:Gm4787
|
APN |
12 |
81,379,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
F5770:Gm4787
|
UTSW |
12 |
81,377,567 (GRCm38) |
nonsense |
probably null |
|
|
PIT4362001:Gm4787
|
UTSW |
12 |
81,377,175 (GRCm38) |
missense |
probably benign |
|
|
R0070:Gm4787
|
UTSW |
12 |
81,379,066 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0128:Gm4787
|
UTSW |
12 |
81,377,747 (GRCm38) |
nonsense |
probably null |
|
|
R0220:Gm4787
|
UTSW |
12 |
81,378,648 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0304:Gm4787
|
UTSW |
12 |
81,378,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0513:Gm4787
|
UTSW |
12 |
81,378,312 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1761:Gm4787
|
UTSW |
12 |
81,377,176 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1809:Gm4787
|
UTSW |
12 |
81,378,529 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1853:Gm4787
|
UTSW |
12 |
81,378,334 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1854:Gm4787
|
UTSW |
12 |
81,378,334 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2030:Gm4787
|
UTSW |
12 |
81,378,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2063:Gm4787
|
UTSW |
12 |
81,378,920 (GRCm38) |
missense |
probably benign |
0.39 |
|
R2112:Gm4787
|
UTSW |
12 |
81,377,833 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2140:Gm4787
|
UTSW |
12 |
81,378,562 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2151:Gm4787
|
UTSW |
12 |
81,377,219 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2152:Gm4787
|
UTSW |
12 |
81,377,219 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2342:Gm4787
|
UTSW |
12 |
81,378,758 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R2504:Gm4787
|
UTSW |
12 |
81,379,137 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4038:Gm4787
|
UTSW |
12 |
81,378,358 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4604:Gm4787
|
UTSW |
12 |
81,379,213 (GRCm38) |
missense |
probably benign |
0.17 |
|
R4748:Gm4787
|
UTSW |
12 |
81,378,056 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4750:Gm4787
|
UTSW |
12 |
81,378,367 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4928:Gm4787
|
UTSW |
12 |
81,378,838 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4960:Gm4787
|
UTSW |
12 |
81,379,316 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4974:Gm4787
|
UTSW |
12 |
81,377,629 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5028:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5029:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5031:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5098:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5099:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5100:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5101:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5135:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5152:Gm4787
|
UTSW |
12 |
81,378,677 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5180:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5220:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5257:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5258:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5297:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5324:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5325:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5355:Gm4787
|
UTSW |
12 |
81,377,465 (GRCm38) |
nonsense |
probably null |
|
|
R5364:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5396:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5397:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5398:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5514:Gm4787
|
UTSW |
12 |
81,378,328 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5634:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5666:Gm4787
|
UTSW |
12 |
81,378,031 (GRCm38) |
missense |
probably benign |
0.23 |
|
R5670:Gm4787
|
UTSW |
12 |
81,378,031 (GRCm38) |
missense |
probably benign |
0.23 |
|
R5787:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6354:Gm4787
|
UTSW |
12 |
81,377,981 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6932:Gm4787
|
UTSW |
12 |
81,379,200 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7120:Gm4787
|
UTSW |
12 |
81,378,486 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7237:Gm4787
|
UTSW |
12 |
81,377,668 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7937:Gm4787
|
UTSW |
12 |
81,377,905 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8022:Gm4787
|
UTSW |
12 |
81,377,720 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8140:Gm4787
|
UTSW |
12 |
81,378,151 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8314:Gm4787
|
UTSW |
12 |
81,379,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8480:Gm4787
|
UTSW |
12 |
81,377,506 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8498:Gm4787
|
UTSW |
12 |
81,379,066 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8515:Gm4787
|
UTSW |
12 |
81,377,269 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9103:Gm4787
|
UTSW |
12 |
81,378,715 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9457:Gm4787
|
UTSW |
12 |
81,379,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9557:Gm4787
|
UTSW |
12 |
81,379,300 (GRCm38) |
nonsense |
probably null |
|
|
R9608:Gm4787
|
UTSW |
12 |
81,378,312 (GRCm38) |
missense |
probably benign |
0.03 |
|
V7580:Gm4787
|
UTSW |
12 |
81,377,567 (GRCm38) |
nonsense |
probably null |
|
|
V7581:Gm4787
|
UTSW |
12 |
81,377,567 (GRCm38) |
nonsense |
probably null |
|
|
V7582:Gm4787
|
UTSW |
12 |
81,377,567 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCTTGACACCATCACAGTG -3'
(R):5'- TCAGGGCAGCTCTTGTAATAAAGG -3'
Sequencing Primer
(F):5'- CCATCACAGTGGAGCATTCC -3'
(R):5'- CAGCTCTTGTAATAAAGGAGGTTGC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation