Incidental Mutation 'R1946:Gm9573'
| ID |
216718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm9573
|
| Ensembl Gene |
ENSMUSG00000090588 |
| Gene Name |
predicted gene 9573 |
| Synonyms |
Muc21, epiglycanin |
| MMRRC Submission |
039964-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R1946 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35617923-35626637 bp(-) (GRCm38) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 35622524 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164502]
[ENSMUST00000174521]
|
| AlphaFold |
F7C950 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000164502
AA Change: S257T
|
| SMART Domains |
Protein: ENSMUSP00000130987
Gene: ENSMUSG00000090588
AA Change: S257T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
149 |
578 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
653 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
1179 |
N/A |
INTRINSIC |
|
low complexity region
|
1183 |
1373 |
N/A |
INTRINSIC |
|
low complexity region
|
1383 |
1436 |
N/A |
INTRINSIC |
|
low complexity region
|
1438 |
1479 |
N/A |
INTRINSIC |
|
Pfam:Epiglycanin_C
|
1518 |
1605 |
3.8e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173759
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174521
|
| SMART Domains |
Protein: ENSMUSP00000134221
Gene: ENSMUSG00000090509
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SFTA2
|
80 |
117 |
9.2e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174534
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 76,891,704 (GRCm38) |
S253P |
probably damaging |
Het |
| Adamts5 |
C |
A |
16: 85,899,243 (GRCm38) |
C342F |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,374,249 (GRCm38) |
C5923Y |
probably damaging |
Het |
| Aen |
G |
C |
7: 78,902,672 (GRCm38) |
E32Q |
probably damaging |
Het |
| Apba2 |
T |
C |
7: 64,744,630 (GRCm38) |
|
probably null |
Het |
| Arhgap44 |
A |
G |
11: 65,012,096 (GRCm38) |
M509T |
probably damaging |
Het |
| Arpc1b |
A |
G |
5: 145,122,633 (GRCm38) |
T56A |
probably null |
Het |
| Atoh1 |
T |
C |
6: 64,729,459 (GRCm38) |
V46A |
probably benign |
Het |
| Bmpr2 |
T |
C |
1: 59,868,397 (GRCm38) |
V883A |
possibly damaging |
Het |
| Bpifa1 |
A |
T |
2: 154,145,634 (GRCm38) |
I135F |
probably damaging |
Het |
| Bsn |
A |
G |
9: 108,114,651 (GRCm38) |
F1301L |
probably damaging |
Het |
| Capn13 |
T |
C |
17: 73,350,525 (GRCm38) |
E240G |
possibly damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,228,995 (GRCm38) |
E1434G |
probably damaging |
Het |
| Coq8b |
G |
A |
7: 27,239,874 (GRCm38) |
V150I |
possibly damaging |
Het |
| Cpn1 |
G |
A |
19: 43,956,518 (GRCm38) |
T450M |
probably benign |
Het |
| Dlg4 |
A |
G |
11: 70,039,575 (GRCm38) |
Y432C |
probably damaging |
Het |
| Dnah8 |
C |
A |
17: 30,712,385 (GRCm38) |
T1458K |
probably benign |
Het |
| Dock5 |
A |
T |
14: 67,786,316 (GRCm38) |
M1132K |
probably damaging |
Het |
| Dsg2 |
A |
G |
18: 20,580,548 (GRCm38) |
D192G |
probably damaging |
Het |
| F930017D23Rik |
G |
A |
10: 43,593,444 (GRCm38) |
|
noncoding transcript |
Het |
| Fndc11 |
A |
T |
2: 181,221,834 (GRCm38) |
D144V |
probably benign |
Het |
| Fut2 |
A |
G |
7: 45,651,324 (GRCm38) |
F8S |
probably damaging |
Het |
| Gad2 |
A |
T |
2: 22,685,428 (GRCm38) |
T515S |
probably benign |
Het |
| Ganab |
T |
A |
19: 8,910,808 (GRCm38) |
D439E |
probably damaging |
Het |
| Gm10228 |
C |
A |
16: 89,041,353 (GRCm38) |
G21V |
unknown |
Het |
| Gm13119 |
T |
A |
4: 144,361,865 (GRCm38) |
V77E |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,512,123 (GRCm38) |
W576R |
probably damaging |
Het |
| Gsdmc4 |
C |
A |
15: 63,902,780 (GRCm38) |
D51Y |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,405,635 (GRCm38) |
S2619P |
probably damaging |
Het |
| Kcnq2 |
T |
A |
2: 181,088,451 (GRCm38) |
D446V |
probably benign |
Het |
| Kera |
A |
G |
10: 97,609,147 (GRCm38) |
K123E |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,315,154 (GRCm38) |
V1986E |
probably benign |
Het |
| Lrp11 |
T |
C |
10: 7,623,776 (GRCm38) |
Y244H |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,665,147 (GRCm38) |
D320V |
unknown |
Het |
| Lrrcc1 |
A |
G |
3: 14,550,393 (GRCm38) |
R394G |
probably benign |
Het |
| Lrrk2 |
G |
A |
15: 91,736,661 (GRCm38) |
|
probably null |
Het |
| Map4k5 |
A |
T |
12: 69,845,755 (GRCm38) |
D133E |
probably damaging |
Het |
| Megf11 |
A |
T |
9: 64,679,276 (GRCm38) |
D461V |
probably damaging |
Het |
| Msrb3 |
A |
G |
10: 120,852,008 (GRCm38) |
V54A |
probably damaging |
Het |
| Ncoa3 |
T |
A |
2: 166,059,177 (GRCm38) |
N896K |
possibly damaging |
Het |
| Ncor2 |
G |
A |
5: 125,034,412 (GRCm38) |
T1314I |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,978,514 (GRCm38) |
Q1316R |
possibly damaging |
Het |
| Nfe2l3 |
A |
C |
6: 51,457,315 (GRCm38) |
Q285P |
probably damaging |
Het |
| Nkd1 |
C |
T |
8: 88,592,117 (GRCm38) |
H357Y |
probably damaging |
Het |
| Nmt2 |
T |
A |
2: 3,322,635 (GRCm38) |
I355N |
probably benign |
Het |
| Olfr1333 |
T |
C |
4: 118,830,026 (GRCm38) |
N139S |
probably benign |
Het |
| Olfr1354 |
T |
A |
10: 78,916,924 (GRCm38) |
I28N |
probably damaging |
Het |
| Olfr1469 |
T |
C |
19: 13,410,779 (GRCm38) |
V70A |
possibly damaging |
Het |
| Olfr147 |
T |
A |
9: 38,402,886 (GRCm38) |
M1K |
probably null |
Het |
| Olfr290 |
T |
C |
7: 84,916,279 (GRCm38) |
S167P |
probably benign |
Het |
| Olfr353 |
A |
T |
2: 36,890,446 (GRCm38) |
M134K |
possibly damaging |
Het |
| Otx1 |
G |
T |
11: 21,998,482 (GRCm38) |
T46K |
probably damaging |
Het |
| Panx1 |
A |
G |
9: 15,007,526 (GRCm38) |
C346R |
probably benign |
Het |
| Pcdhb16 |
T |
A |
18: 37,478,899 (GRCm38) |
L304* |
probably null |
Het |
| Plet1 |
A |
G |
9: 50,504,352 (GRCm38) |
|
probably null |
Het |
| Plod2 |
A |
G |
9: 92,607,135 (GRCm38) |
S707G |
probably damaging |
Het |
| Plscr4 |
G |
A |
9: 92,483,836 (GRCm38) |
V120I |
probably damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,892,270 (GRCm38) |
V245A |
probably damaging |
Het |
| Ppp2r2d |
A |
G |
7: 138,868,467 (GRCm38) |
D19G |
probably damaging |
Het |
| Rimbp3 |
G |
A |
16: 17,210,427 (GRCm38) |
V572I |
probably benign |
Het |
| Ror2 |
T |
C |
13: 53,131,849 (GRCm38) |
I110V |
probably damaging |
Het |
| Sec24d |
A |
T |
3: 123,353,394 (GRCm38) |
H667L |
probably benign |
Het |
| Sema3d |
A |
G |
5: 12,573,843 (GRCm38) |
Q573R |
probably damaging |
Het |
| Snx19 |
T |
A |
9: 30,432,324 (GRCm38) |
N593K |
probably damaging |
Het |
| Sulf1 |
T |
C |
1: 12,796,907 (GRCm38) |
V105A |
probably benign |
Het |
| Syngr3 |
T |
C |
17: 24,687,706 (GRCm38) |
N45S |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,735,808 (GRCm38) |
H524L |
probably damaging |
Het |
| Tex30 |
C |
T |
1: 44,091,404 (GRCm38) |
G68D |
probably damaging |
Het |
| Tmem43 |
A |
T |
6: 91,486,909 (GRCm38) |
I389F |
probably benign |
Het |
| Trpm1 |
A |
T |
7: 64,223,808 (GRCm38) |
N488Y |
probably damaging |
Het |
| Usf2 |
T |
C |
7: 30,956,238 (GRCm38) |
T1A |
probably null |
Het |
| Vill |
A |
T |
9: 119,058,492 (GRCm38) |
H108L |
probably benign |
Het |
| Vmn1r16 |
T |
C |
6: 57,322,900 (GRCm38) |
I246V |
probably benign |
Het |
| Vmn1r188 |
T |
G |
13: 22,088,645 (GRCm38) |
S256R |
possibly damaging |
Het |
| Zfp12 |
G |
A |
5: 143,245,378 (GRCm38) |
E487K |
probably damaging |
Het |
| Zfp24 |
AC |
A |
18: 24,014,419 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Gm9573 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
BB009:Gm9573
|
UTSW |
17 |
35,622,633 (GRCm38) |
intron |
probably benign |
|
|
FR4304:Gm9573
|
UTSW |
17 |
35,622,121 (GRCm38) |
intron |
probably benign |
|
|
R0334:Gm9573
|
UTSW |
17 |
35,622,722 (GRCm38) |
intron |
probably benign |
|
|
R0946:Gm9573
|
UTSW |
17 |
35,618,213 (GRCm38) |
missense |
probably benign |
0.32 |
|
R1117:Gm9573
|
UTSW |
17 |
35,620,028 (GRCm38) |
intron |
probably benign |
|
|
R1345:Gm9573
|
UTSW |
17 |
35,621,597 (GRCm38) |
intron |
probably benign |
|
|
R1697:Gm9573
|
UTSW |
17 |
35,620,648 (GRCm38) |
intron |
probably benign |
|
|
R1750:Gm9573
|
UTSW |
17 |
35,621,048 (GRCm38) |
intron |
probably benign |
|
|
R1756:Gm9573
|
UTSW |
17 |
35,619,239 (GRCm38) |
intron |
probably benign |
|
|
R1978:Gm9573
|
UTSW |
17 |
35,622,965 (GRCm38) |
intron |
probably benign |
|
|
R1991:Gm9573
|
UTSW |
17 |
35,618,708 (GRCm38) |
missense |
probably benign |
0.32 |
|
R1992:Gm9573
|
UTSW |
17 |
35,618,708 (GRCm38) |
missense |
probably benign |
0.32 |
|
R2063:Gm9573
|
UTSW |
17 |
35,621,405 (GRCm38) |
intron |
probably benign |
|
|
R2356:Gm9573
|
UTSW |
17 |
35,621,671 (GRCm38) |
intron |
probably benign |
|
|
R2866:Gm9573
|
UTSW |
17 |
35,619,707 (GRCm38) |
intron |
probably benign |
|
|
R3826:Gm9573
|
UTSW |
17 |
35,621,612 (GRCm38) |
intron |
probably benign |
|
|
R4020:Gm9573
|
UTSW |
17 |
35,620,061 (GRCm38) |
intron |
probably benign |
|
|
R4474:Gm9573
|
UTSW |
17 |
35,620,604 (GRCm38) |
intron |
probably benign |
|
|
R4677:Gm9573
|
UTSW |
17 |
35,619,707 (GRCm38) |
intron |
probably benign |
|
|
R4786:Gm9573
|
UTSW |
17 |
35,619,329 (GRCm38) |
intron |
probably benign |
|
|
R5071:Gm9573
|
UTSW |
17 |
35,620,552 (GRCm38) |
intron |
probably benign |
|
|
R5173:Gm9573
|
UTSW |
17 |
35,620,741 (GRCm38) |
intron |
probably benign |
|
|
R5283:Gm9573
|
UTSW |
17 |
35,621,332 (GRCm38) |
intron |
probably benign |
|
|
R5446:Gm9573
|
UTSW |
17 |
35,622,503 (GRCm38) |
intron |
probably benign |
|
|
R5542:Gm9573
|
UTSW |
17 |
35,622,503 (GRCm38) |
intron |
probably benign |
|
|
R5716:Gm9573
|
UTSW |
17 |
35,620,783 (GRCm38) |
intron |
probably benign |
|
|
R5913:Gm9573
|
UTSW |
17 |
35,623,231 (GRCm38) |
intron |
probably benign |
|
|
R6011:Gm9573
|
UTSW |
17 |
35,622,182 (GRCm38) |
intron |
probably benign |
|
|
R6198:Gm9573
|
UTSW |
17 |
35,620,916 (GRCm38) |
intron |
probably benign |
|
|
R6394:Gm9573
|
UTSW |
17 |
35,620,166 (GRCm38) |
intron |
probably benign |
|
|
R6786:Gm9573
|
UTSW |
17 |
35,623,165 (GRCm38) |
intron |
probably benign |
|
|
R6940:Gm9573
|
UTSW |
17 |
35,623,226 (GRCm38) |
intron |
probably benign |
|
|
R7082:Gm9573
|
UTSW |
17 |
35,621,201 (GRCm38) |
missense |
unknown |
|
|
R7103:Gm9573
|
UTSW |
17 |
35,621,540 (GRCm38) |
missense |
unknown |
|
|
R7110:Gm9573
|
UTSW |
17 |
35,622,618 (GRCm38) |
intron |
probably benign |
|
|
R7139:Gm9573
|
UTSW |
17 |
35,622,633 (GRCm38) |
intron |
probably benign |
|
|
R7165:Gm9573
|
UTSW |
17 |
35,621,978 (GRCm38) |
missense |
unknown |
|
|
R7200:Gm9573
|
UTSW |
17 |
35,622,633 (GRCm38) |
intron |
probably benign |
|
|
R7204:Gm9573
|
UTSW |
17 |
35,621,213 (GRCm38) |
intron |
probably benign |
|
|
R7289:Gm9573
|
UTSW |
17 |
35,618,869 (GRCm38) |
missense |
unknown |
|
|
R7290:Gm9573
|
UTSW |
17 |
35,618,869 (GRCm38) |
missense |
unknown |
|
|
R7295:Gm9573
|
UTSW |
17 |
35,618,869 (GRCm38) |
missense |
unknown |
|
|
R7319:Gm9573
|
UTSW |
17 |
35,622,043 (GRCm38) |
intron |
probably benign |
|
|
R7462:Gm9573
|
UTSW |
17 |
35,620,676 (GRCm38) |
missense |
unknown |
|
|
R7529:Gm9573
|
UTSW |
17 |
35,619,231 (GRCm38) |
missense |
unknown |
|
|
R7718:Gm9573
|
UTSW |
17 |
35,622,836 (GRCm38) |
missense |
unknown |
|
|
R7762:Gm9573
|
UTSW |
17 |
35,622,085 (GRCm38) |
missense |
unknown |
|
|
R7788:Gm9573
|
UTSW |
17 |
35,618,906 (GRCm38) |
missense |
unknown |
|
|
R7798:Gm9573
|
UTSW |
17 |
35,621,254 (GRCm38) |
missense |
unknown |
|
|
R7831:Gm9573
|
UTSW |
17 |
35,618,759 (GRCm38) |
missense |
unknown |
|
|
R7896:Gm9573
|
UTSW |
17 |
35,620,025 (GRCm38) |
missense |
unknown |
|
|
R7899:Gm9573
|
UTSW |
17 |
35,620,601 (GRCm38) |
intron |
probably benign |
|
|
R7932:Gm9573
|
UTSW |
17 |
35,622,633 (GRCm38) |
intron |
probably benign |
|
|
R8025:Gm9573
|
UTSW |
17 |
35,620,987 (GRCm38) |
intron |
probably benign |
|
|
R8077:Gm9573
|
UTSW |
17 |
35,619,736 (GRCm38) |
intron |
probably benign |
|
|
R8090:Gm9573
|
UTSW |
17 |
35,621,725 (GRCm38) |
missense |
unknown |
|
|
R8169:Gm9573
|
UTSW |
17 |
35,621,180 (GRCm38) |
missense |
unknown |
|
|
R8184:Gm9573
|
UTSW |
17 |
35,622,830 (GRCm38) |
missense |
unknown |
|
|
R8209:Gm9573
|
UTSW |
17 |
35,619,707 (GRCm38) |
intron |
probably benign |
|
|
R8226:Gm9573
|
UTSW |
17 |
35,619,707 (GRCm38) |
intron |
probably benign |
|
|
R8464:Gm9573
|
UTSW |
17 |
35,622,206 (GRCm38) |
intron |
probably benign |
|
|
R8670:Gm9573
|
UTSW |
17 |
35,621,648 (GRCm38) |
missense |
unknown |
|
|
R8783:Gm9573
|
UTSW |
17 |
35,619,983 (GRCm38) |
missense |
unknown |
|
|
R8856:Gm9573
|
UTSW |
17 |
35,620,973 (GRCm38) |
missense |
unknown |
|
|
R9155:Gm9573
|
UTSW |
17 |
35,621,239 (GRCm38) |
missense |
unknown |
|
|
R9214:Gm9573
|
UTSW |
17 |
35,620,946 (GRCm38) |
missense |
unknown |
|
|
R9353:Gm9573
|
UTSW |
17 |
35,619,653 (GRCm38) |
missense |
unknown |
|
|
R9618:Gm9573
|
UTSW |
17 |
35,622,043 (GRCm38) |
intron |
probably benign |
|
|
R9621:Gm9573
|
UTSW |
17 |
35,621,828 (GRCm38) |
missense |
unknown |
|
|
R9679:Gm9573
|
UTSW |
17 |
35,619,599 (GRCm38) |
missense |
unknown |
|
|
RF025:Gm9573
|
UTSW |
17 |
35,622,879 (GRCm38) |
intron |
probably benign |
|
|
Z1176:Gm9573
|
UTSW |
17 |
35,621,245 (GRCm38) |
missense |
unknown |
|
|
Z1177:Gm9573
|
UTSW |
17 |
35,621,059 (GRCm38) |
missense |
unknown |
|
|
Z1177:Gm9573
|
UTSW |
17 |
35,620,925 (GRCm38) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCAGTGCTGGATTCAGTG -3'
(R):5'- CTGCCTCAGGATCTACACCTAC -3'
Sequencing Primer
(F):5'- CTGGATTCAGTGGTGGGCAG -3'
(R):5'- TCAGGATCTACACCTACCCCGAC -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation