Incidental Mutation 'R0173:Gon4l'
ID |
23700 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gon4l
|
Ensembl Gene |
ENSMUSG00000054199 |
Gene Name |
gon-4 like |
Synonyms |
1500041I23Rik, 2610100B20Rik |
MMRRC Submission |
038445-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.903)
|
Stock # |
R0173 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
3 |
Chromosomal Location |
88742531-88817406 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88765710 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 377
(D377G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103122
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081695]
[ENSMUST00000090942]
[ENSMUST00000107498]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081695
AA Change: D377G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080397 Gene: ENSMUSG00000054199 AA Change: D377G
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
29 |
N/A |
INTRINSIC |
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
low complexity region
|
150 |
163 |
N/A |
INTRINSIC |
low complexity region
|
240 |
256 |
N/A |
INTRINSIC |
low complexity region
|
348 |
377 |
N/A |
INTRINSIC |
low complexity region
|
432 |
439 |
N/A |
INTRINSIC |
low complexity region
|
527 |
542 |
N/A |
INTRINSIC |
low complexity region
|
683 |
696 |
N/A |
INTRINSIC |
Blast:SANT
|
813 |
865 |
1e-23 |
BLAST |
low complexity region
|
961 |
975 |
N/A |
INTRINSIC |
low complexity region
|
1311 |
1329 |
N/A |
INTRINSIC |
low complexity region
|
1418 |
1434 |
N/A |
INTRINSIC |
low complexity region
|
1452 |
1497 |
N/A |
INTRINSIC |
low complexity region
|
1507 |
1541 |
N/A |
INTRINSIC |
Pfam:PAH
|
1652 |
1700 |
8.8e-9 |
PFAM |
low complexity region
|
1800 |
1811 |
N/A |
INTRINSIC |
coiled coil region
|
1919 |
1943 |
N/A |
INTRINSIC |
low complexity region
|
2085 |
2094 |
N/A |
INTRINSIC |
SANT
|
2153 |
2204 |
2.2e-1 |
SMART |
low complexity region
|
2207 |
2222 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082804
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090942
AA Change: D378G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000088461 Gene: ENSMUSG00000054199 AA Change: D378G
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
29 |
N/A |
INTRINSIC |
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
low complexity region
|
150 |
163 |
N/A |
INTRINSIC |
low complexity region
|
241 |
257 |
N/A |
INTRINSIC |
low complexity region
|
349 |
378 |
N/A |
INTRINSIC |
low complexity region
|
433 |
440 |
N/A |
INTRINSIC |
low complexity region
|
528 |
543 |
N/A |
INTRINSIC |
low complexity region
|
684 |
697 |
N/A |
INTRINSIC |
Blast:SANT
|
814 |
866 |
2e-23 |
BLAST |
low complexity region
|
962 |
976 |
N/A |
INTRINSIC |
low complexity region
|
1312 |
1330 |
N/A |
INTRINSIC |
low complexity region
|
1419 |
1435 |
N/A |
INTRINSIC |
low complexity region
|
1453 |
1498 |
N/A |
INTRINSIC |
low complexity region
|
1508 |
1542 |
N/A |
INTRINSIC |
Pfam:PAH
|
1654 |
1700 |
2.1e-8 |
PFAM |
low complexity region
|
1801 |
1812 |
N/A |
INTRINSIC |
coiled coil region
|
1920 |
1944 |
N/A |
INTRINSIC |
low complexity region
|
2086 |
2095 |
N/A |
INTRINSIC |
SANT
|
2154 |
2205 |
2.2e-1 |
SMART |
low complexity region
|
2208 |
2223 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107498
AA Change: D377G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103122 Gene: ENSMUSG00000054199 AA Change: D377G
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
29 |
N/A |
INTRINSIC |
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
low complexity region
|
150 |
163 |
N/A |
INTRINSIC |
low complexity region
|
240 |
256 |
N/A |
INTRINSIC |
low complexity region
|
348 |
377 |
N/A |
INTRINSIC |
low complexity region
|
432 |
439 |
N/A |
INTRINSIC |
low complexity region
|
527 |
542 |
N/A |
INTRINSIC |
low complexity region
|
683 |
696 |
N/A |
INTRINSIC |
Blast:SANT
|
813 |
865 |
1e-23 |
BLAST |
low complexity region
|
961 |
975 |
N/A |
INTRINSIC |
low complexity region
|
1311 |
1329 |
N/A |
INTRINSIC |
low complexity region
|
1418 |
1434 |
N/A |
INTRINSIC |
low complexity region
|
1452 |
1497 |
N/A |
INTRINSIC |
low complexity region
|
1507 |
1541 |
N/A |
INTRINSIC |
Pfam:PAH
|
1652 |
1700 |
8.8e-9 |
PFAM |
low complexity region
|
1800 |
1811 |
N/A |
INTRINSIC |
coiled coil region
|
1919 |
1943 |
N/A |
INTRINSIC |
low complexity region
|
2085 |
2094 |
N/A |
INTRINSIC |
SANT
|
2153 |
2204 |
2.2e-1 |
SMART |
low complexity region
|
2207 |
2222 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198251
|
Predicted Effect |
unknown
Transcript: ENSMUST00000212694
AA Change: D85G
|
Meta Mutation Damage Score |
0.1702 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 95.1%
|
Validation Efficiency |
96% (64/67) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit arrested B cell development at the early pro-B cell stage. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A330008L17Rik |
G |
A |
8: 100,148,286 (GRCm39) |
|
noncoding transcript |
Het |
Akt1s1 |
C |
T |
7: 44,502,284 (GRCm39) |
P95S |
possibly damaging |
Het |
Ambra1 |
T |
C |
2: 91,640,564 (GRCm39) |
|
probably benign |
Het |
Aunip |
T |
A |
4: 134,250,861 (GRCm39) |
W269R |
probably damaging |
Het |
Bmper |
A |
G |
9: 23,136,125 (GRCm39) |
M69V |
probably benign |
Het |
Cdh2 |
A |
T |
18: 16,783,314 (GRCm39) |
|
probably benign |
Het |
Cenpe |
T |
C |
3: 134,965,744 (GRCm39) |
M2074T |
probably benign |
Het |
Col14a1 |
C |
T |
15: 55,351,928 (GRCm39) |
P1592S |
probably damaging |
Het |
Csgalnact1 |
G |
A |
8: 68,913,681 (GRCm39) |
R175C |
probably damaging |
Het |
Dtx1 |
A |
G |
5: 120,820,818 (GRCm39) |
|
probably benign |
Het |
Elmod3 |
T |
C |
6: 72,554,571 (GRCm39) |
D154G |
probably damaging |
Het |
Eno1b |
T |
C |
18: 48,180,806 (GRCm39) |
I328T |
probably benign |
Het |
Gab1 |
T |
C |
8: 81,526,789 (GRCm39) |
D103G |
possibly damaging |
Het |
Gramd1c |
C |
T |
16: 43,818,196 (GRCm39) |
R328K |
possibly damaging |
Het |
Hdac3 |
A |
G |
18: 38,074,806 (GRCm39) |
S312P |
probably damaging |
Het |
Hmcn2 |
T |
C |
2: 31,328,343 (GRCm39) |
|
probably null |
Het |
Intu |
T |
C |
3: 40,629,776 (GRCm39) |
|
probably null |
Het |
Lnpk |
T |
C |
2: 74,381,409 (GRCm39) |
K118R |
probably damaging |
Het |
Lzts3 |
A |
C |
2: 130,476,688 (GRCm39) |
*587G |
probably null |
Het |
Mctp2 |
C |
T |
7: 71,896,855 (GRCm39) |
|
probably null |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Mmp23 |
G |
T |
4: 155,735,222 (GRCm39) |
R374S |
possibly damaging |
Het |
Morc3 |
G |
A |
16: 93,629,094 (GRCm39) |
|
probably null |
Het |
Mymk |
C |
T |
2: 26,952,262 (GRCm39) |
A161T |
probably damaging |
Het |
Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
Neb |
T |
C |
2: 52,133,859 (GRCm39) |
S3375G |
probably damaging |
Het |
Nedd1 |
T |
C |
10: 92,534,745 (GRCm39) |
D255G |
probably benign |
Het |
Nid2 |
T |
C |
14: 19,852,400 (GRCm39) |
|
probably benign |
Het |
Nr1d2 |
A |
G |
14: 18,215,502 (GRCm38) |
|
probably benign |
Het |
Nus1 |
A |
G |
10: 52,294,094 (GRCm39) |
H86R |
possibly damaging |
Het |
Or5b118 |
A |
T |
19: 13,449,065 (GRCm39) |
I244F |
probably benign |
Het |
Or7g17 |
A |
G |
9: 18,768,325 (GRCm39) |
I135V |
probably damaging |
Het |
Plcxd2 |
A |
T |
16: 45,785,542 (GRCm39) |
|
probably null |
Het |
Prdm9 |
T |
A |
17: 15,764,275 (GRCm39) |
D835V |
probably benign |
Het |
Prdm9 |
A |
G |
17: 15,764,297 (GRCm39) |
W828R |
probably benign |
Het |
Prkd2 |
T |
C |
7: 16,582,969 (GRCm39) |
S244P |
probably benign |
Het |
Psmd4 |
A |
T |
3: 94,940,234 (GRCm39) |
L159H |
probably damaging |
Het |
Qprt |
C |
T |
7: 126,707,543 (GRCm39) |
G215E |
probably damaging |
Het |
Rab3gap2 |
C |
A |
1: 184,982,104 (GRCm39) |
H385Q |
possibly damaging |
Het |
Rapgef5 |
A |
G |
12: 117,652,411 (GRCm39) |
D300G |
probably benign |
Het |
Rbl1 |
A |
T |
2: 157,001,605 (GRCm39) |
N894K |
probably benign |
Het |
Rgma |
C |
T |
7: 73,067,302 (GRCm39) |
R280W |
probably damaging |
Het |
Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
Rundc3a |
T |
A |
11: 102,289,071 (GRCm39) |
|
probably benign |
Het |
Scaf11 |
A |
T |
15: 96,318,075 (GRCm39) |
D496E |
probably benign |
Het |
Scn9a |
T |
C |
2: 66,363,437 (GRCm39) |
Y936C |
probably damaging |
Het |
Sdk1 |
A |
G |
5: 142,159,564 (GRCm39) |
|
probably benign |
Het |
Serpinb9 |
G |
A |
13: 33,194,705 (GRCm39) |
D154N |
probably benign |
Het |
Slc48a1 |
A |
T |
15: 97,688,555 (GRCm39) |
H131L |
possibly damaging |
Het |
Slco1a6 |
T |
C |
6: 142,048,848 (GRCm39) |
N311D |
probably benign |
Het |
Sorl1 |
A |
G |
9: 41,979,229 (GRCm39) |
V423A |
probably damaging |
Het |
Srrm2 |
C |
A |
17: 24,034,103 (GRCm39) |
|
probably benign |
Het |
Srsf12 |
A |
T |
4: 33,226,117 (GRCm39) |
S122C |
probably damaging |
Het |
Suclg2 |
G |
C |
6: 95,452,154 (GRCm39) |
|
probably benign |
Het |
Tbpl1 |
A |
T |
10: 22,583,523 (GRCm39) |
L149* |
probably null |
Het |
Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
Tmem63a |
T |
C |
1: 180,782,363 (GRCm39) |
|
probably benign |
Het |
Tut1 |
C |
T |
19: 8,942,847 (GRCm39) |
R645* |
probably null |
Het |
Ubqln4 |
T |
A |
3: 88,462,686 (GRCm39) |
D50E |
probably benign |
Het |
Ubr5 |
A |
G |
15: 38,004,919 (GRCm39) |
S1227P |
probably damaging |
Het |
Vipas39 |
A |
G |
12: 87,297,285 (GRCm39) |
|
probably benign |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Vps26b |
G |
A |
9: 26,924,101 (GRCm39) |
T214I |
probably benign |
Het |
Xpc |
A |
G |
6: 91,481,717 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Gon4l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00870:Gon4l
|
APN |
3 |
88,764,492 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02002:Gon4l
|
APN |
3 |
88,802,643 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL02065:Gon4l
|
APN |
3 |
88,764,517 (GRCm39) |
missense |
probably null |
1.00 |
IGL02283:Gon4l
|
APN |
3 |
88,802,671 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02669:Gon4l
|
APN |
3 |
88,802,806 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03222:Gon4l
|
APN |
3 |
88,802,950 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL03385:Gon4l
|
APN |
3 |
88,814,850 (GRCm39) |
missense |
probably benign |
0.10 |
PIT4581001:Gon4l
|
UTSW |
3 |
88,802,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R0020:Gon4l
|
UTSW |
3 |
88,766,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R0115:Gon4l
|
UTSW |
3 |
88,802,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R0270:Gon4l
|
UTSW |
3 |
88,765,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R0961:Gon4l
|
UTSW |
3 |
88,805,403 (GRCm39) |
splice site |
probably benign |
|
R1017:Gon4l
|
UTSW |
3 |
88,765,803 (GRCm39) |
missense |
probably benign |
0.15 |
R1163:Gon4l
|
UTSW |
3 |
88,799,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R1729:Gon4l
|
UTSW |
3 |
88,810,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R1764:Gon4l
|
UTSW |
3 |
88,799,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R1861:Gon4l
|
UTSW |
3 |
88,802,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R2141:Gon4l
|
UTSW |
3 |
88,794,902 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2347:Gon4l
|
UTSW |
3 |
88,770,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R2402:Gon4l
|
UTSW |
3 |
88,766,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R2842:Gon4l
|
UTSW |
3 |
88,802,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R4375:Gon4l
|
UTSW |
3 |
88,814,694 (GRCm39) |
missense |
probably benign |
0.00 |
R4376:Gon4l
|
UTSW |
3 |
88,814,694 (GRCm39) |
missense |
probably benign |
0.00 |
R4377:Gon4l
|
UTSW |
3 |
88,814,694 (GRCm39) |
missense |
probably benign |
0.00 |
R4569:Gon4l
|
UTSW |
3 |
88,817,397 (GRCm39) |
intron |
probably benign |
|
R4650:Gon4l
|
UTSW |
3 |
88,770,859 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4859:Gon4l
|
UTSW |
3 |
88,802,655 (GRCm39) |
missense |
probably benign |
0.00 |
R4901:Gon4l
|
UTSW |
3 |
88,815,458 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4998:Gon4l
|
UTSW |
3 |
88,807,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R5059:Gon4l
|
UTSW |
3 |
88,807,319 (GRCm39) |
missense |
probably benign |
0.00 |
R5217:Gon4l
|
UTSW |
3 |
88,794,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R5269:Gon4l
|
UTSW |
3 |
88,802,835 (GRCm39) |
missense |
probably benign |
|
R5279:Gon4l
|
UTSW |
3 |
88,794,944 (GRCm39) |
missense |
probably benign |
|
R5283:Gon4l
|
UTSW |
3 |
88,794,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R5386:Gon4l
|
UTSW |
3 |
88,765,803 (GRCm39) |
missense |
probably benign |
0.15 |
R5433:Gon4l
|
UTSW |
3 |
88,803,532 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5583:Gon4l
|
UTSW |
3 |
88,807,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R5695:Gon4l
|
UTSW |
3 |
88,803,523 (GRCm39) |
frame shift |
probably null |
|
R5921:Gon4l
|
UTSW |
3 |
88,817,254 (GRCm39) |
intron |
probably benign |
|
R6003:Gon4l
|
UTSW |
3 |
88,803,400 (GRCm39) |
missense |
probably damaging |
0.99 |
R6063:Gon4l
|
UTSW |
3 |
88,807,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R6217:Gon4l
|
UTSW |
3 |
88,799,968 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6273:Gon4l
|
UTSW |
3 |
88,763,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R6280:Gon4l
|
UTSW |
3 |
88,798,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R6790:Gon4l
|
UTSW |
3 |
88,766,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R6829:Gon4l
|
UTSW |
3 |
88,787,413 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6891:Gon4l
|
UTSW |
3 |
88,766,173 (GRCm39) |
splice site |
probably null |
|
R7128:Gon4l
|
UTSW |
3 |
88,802,999 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7315:Gon4l
|
UTSW |
3 |
88,802,486 (GRCm39) |
missense |
probably benign |
0.00 |
R7355:Gon4l
|
UTSW |
3 |
88,770,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R7426:Gon4l
|
UTSW |
3 |
88,814,829 (GRCm39) |
missense |
probably benign |
|
R7635:Gon4l
|
UTSW |
3 |
88,802,413 (GRCm39) |
missense |
probably benign |
0.03 |
R7643:Gon4l
|
UTSW |
3 |
88,810,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R7715:Gon4l
|
UTSW |
3 |
88,815,313 (GRCm39) |
missense |
probably benign |
|
R7773:Gon4l
|
UTSW |
3 |
88,803,102 (GRCm39) |
missense |
probably benign |
0.00 |
R8090:Gon4l
|
UTSW |
3 |
88,799,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R8224:Gon4l
|
UTSW |
3 |
88,802,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R8260:Gon4l
|
UTSW |
3 |
88,799,937 (GRCm39) |
missense |
probably damaging |
0.98 |
R8434:Gon4l
|
UTSW |
3 |
88,762,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R8732:Gon4l
|
UTSW |
3 |
88,807,291 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8812:Gon4l
|
UTSW |
3 |
88,802,314 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9132:Gon4l
|
UTSW |
3 |
88,815,484 (GRCm39) |
missense |
probably benign |
0.29 |
R9161:Gon4l
|
UTSW |
3 |
88,808,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R9187:Gon4l
|
UTSW |
3 |
88,786,618 (GRCm39) |
missense |
probably benign |
0.10 |
R9212:Gon4l
|
UTSW |
3 |
88,803,730 (GRCm39) |
missense |
probably benign |
0.01 |
R9338:Gon4l
|
UTSW |
3 |
88,809,019 (GRCm39) |
missense |
probably benign |
0.00 |
R9387:Gon4l
|
UTSW |
3 |
88,802,260 (GRCm39) |
missense |
probably benign |
0.00 |
R9416:Gon4l
|
UTSW |
3 |
88,803,538 (GRCm39) |
missense |
probably benign |
0.00 |
R9607:Gon4l
|
UTSW |
3 |
88,765,751 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Gon4l
|
UTSW |
3 |
88,766,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGATGAGGTGAAAGATTTGATTCCTGCC -3'
(R):5'- AGAACTCAGAAAACTTCTCTGCCATGAC -3'
Sequencing Primer
(F):5'- agtttggtggtagagatgagag -3'
(R):5'- CTGCCATGACTAGGTCTCAG -3'
|
Posted On |
2013-04-16 |