Incidental Mutation 'R9416:Gon4l'
ID |
712040 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gon4l
|
Ensembl Gene |
ENSMUSG00000054199 |
Gene Name |
gon-4 like |
Synonyms |
1500041I23Rik, 2610100B20Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.903)
|
Stock # |
R9416 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
88742531-88817406 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 88803538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 1383
(V1383D)
|
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 benign
Transcript: ENSMUST00000081695
AA Change: V1383D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000080397 Gene: ENSMUSG00000054199 AA Change: V1383D
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 |
possibly damaging
Transcript: ENSMUST00000090942
AA Change: V1384D
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000088461 Gene: ENSMUSG00000054199 AA Change: V1384D
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 benign
Transcript: ENSMUST00000107498
AA Change: V1383D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000103122 Gene: ENSMUSG00000054199 AA Change: V1383D
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
C |
T |
4: 86,342,477 (GRCm39) |
T1672I |
probably damaging |
Het |
Ahnak |
T |
G |
19: 8,990,266 (GRCm39) |
M3850R |
unknown |
Het |
Cacna1s |
T |
A |
1: 136,022,689 (GRCm39) |
L874Q |
possibly damaging |
Het |
Cacna2d4 |
A |
T |
6: 119,274,479 (GRCm39) |
D622V |
probably benign |
Het |
Ccdc150 |
T |
C |
1: 54,317,990 (GRCm39) |
S310P |
probably damaging |
Het |
Cecr2 |
A |
T |
6: 120,735,538 (GRCm39) |
N148Y |
|
Het |
Celsr2 |
T |
C |
3: 108,322,084 (GRCm39) |
T243A |
probably damaging |
Het |
Coro1b |
C |
T |
19: 4,201,473 (GRCm39) |
T279I |
probably damaging |
Het |
Cyp51 |
A |
G |
5: 4,150,198 (GRCm39) |
I175T |
probably damaging |
Het |
Dnajc21 |
T |
C |
15: 10,462,048 (GRCm39) |
I118V |
possibly damaging |
Het |
Dtna |
T |
C |
18: 23,780,112 (GRCm39) |
|
probably null |
Het |
Etl4 |
A |
G |
2: 20,748,784 (GRCm39) |
K374R |
probably benign |
Het |
Fance |
G |
A |
17: 28,537,327 (GRCm39) |
C53Y |
probably damaging |
Het |
Gm14496 |
G |
T |
2: 181,640,647 (GRCm39) |
C538F |
probably damaging |
Het |
Gpr6 |
C |
A |
10: 40,946,944 (GRCm39) |
D213Y |
possibly damaging |
Het |
Has2 |
A |
G |
15: 56,531,684 (GRCm39) |
Y344H |
probably damaging |
Het |
Kcnh2 |
A |
T |
5: 24,537,964 (GRCm39) |
M133K |
probably benign |
Het |
Kdm5a |
A |
G |
6: 120,365,056 (GRCm39) |
H152R |
probably damaging |
Het |
Klhl33 |
C |
T |
14: 51,130,225 (GRCm39) |
R163H |
probably damaging |
Het |
Lax1 |
T |
A |
1: 133,611,752 (GRCm39) |
Q61L |
probably benign |
Het |
Lct |
T |
C |
1: 128,228,329 (GRCm39) |
T1055A |
possibly damaging |
Het |
Lrrc8c |
A |
G |
5: 105,756,163 (GRCm39) |
Y646C |
possibly damaging |
Het |
Mtarc1 |
T |
C |
1: 184,527,633 (GRCm39) |
T274A |
probably benign |
Het |
Myo1b |
A |
G |
1: 51,902,577 (GRCm39) |
V51A |
probably damaging |
Het |
Naip2 |
T |
A |
13: 100,298,243 (GRCm39) |
S598C |
probably damaging |
Het |
Neb |
A |
G |
2: 52,137,215 (GRCm39) |
S250P |
|
Het |
Nim1k |
A |
T |
13: 120,189,362 (GRCm39) |
C16S |
probably benign |
Het |
Oosp1 |
T |
C |
19: 11,664,769 (GRCm39) |
T96A |
probably damaging |
Het |
Or1e1c |
T |
C |
11: 73,265,790 (GRCm39) |
S75P |
probably damaging |
Het |
Or2q1 |
G |
T |
6: 42,795,197 (GRCm39) |
R264L |
probably benign |
Het |
Or8k17 |
T |
A |
2: 86,066,744 (GRCm39) |
Q138L |
probably damaging |
Het |
Pik3c2b |
C |
T |
1: 133,005,187 (GRCm39) |
R563C |
probably damaging |
Het |
Ppp1r18 |
CGAGGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGAGGA |
17: 36,184,743 (GRCm39) |
|
probably benign |
Het |
Prps1l1 |
T |
A |
12: 35,035,089 (GRCm39) |
M68K |
|
Het |
Prr11 |
A |
T |
11: 86,992,254 (GRCm39) |
L207* |
probably null |
Het |
Psme3 |
T |
C |
11: 101,211,559 (GRCm39) |
Y202H |
probably damaging |
Het |
Ptma |
A |
G |
1: 86,455,694 (GRCm39) |
S57G |
unknown |
Het |
Rab24 |
A |
G |
13: 55,468,049 (GRCm39) |
V33A |
unknown |
Het |
Reep6 |
A |
G |
10: 80,166,091 (GRCm39) |
T83A |
probably benign |
Het |
Semp2l2b |
C |
T |
10: 21,943,752 (GRCm39) |
R76Q |
probably benign |
Het |
Shroom4 |
GCAACAACAACAACAACAACAACAACA |
GCAACAACAACAACAACAACAACA |
X: 6,536,131 (GRCm39) |
|
probably benign |
Het |
Siglec1 |
T |
C |
2: 130,925,390 (GRCm39) |
K357R |
probably benign |
Het |
Slc2a4 |
T |
A |
11: 69,836,728 (GRCm39) |
H167L |
probably benign |
Het |
Slc8a3 |
T |
A |
12: 81,361,838 (GRCm39) |
H327L |
probably benign |
Het |
Slf1 |
G |
A |
13: 77,194,656 (GRCm39) |
L890F |
|
Het |
Smchd1 |
A |
C |
17: 71,701,791 (GRCm39) |
I1067R |
probably benign |
Het |
Stk33 |
T |
A |
7: 108,940,689 (GRCm39) |
N7I |
probably benign |
Het |
Tex47 |
T |
C |
5: 7,355,194 (GRCm39) |
M125T |
possibly damaging |
Het |
Thada |
A |
T |
17: 84,766,292 (GRCm39) |
L38* |
probably null |
Het |
Thbs1 |
A |
G |
2: 117,947,983 (GRCm39) |
D381G |
probably benign |
Het |
Uggt1 |
A |
T |
1: 36,203,603 (GRCm39) |
V1009D |
|
Het |
Usp17la |
A |
T |
7: 104,508,531 (GRCm39) |
|
probably benign |
Het |
Zfp438 |
A |
T |
18: 5,214,054 (GRCm39) |
N301K |
probably benign |
Het |
Zfp606 |
T |
A |
7: 12,227,907 (GRCm39) |
I676N |
possibly damaging |
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 |
R0173:Gon4l
|
UTSW |
3 |
88,765,710 (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 |
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'- ACTCTCTGAGCTCTTCATCGAAG -3'
(R):5'- TCTTGGGTGAGGTCATCAAAG -3'
Sequencing Primer
(F):5'- TTCCCAAGCAGGACATTG -3'
(R):5'- GGTGAGGTCATCAAAGTCCTC -3'
|
Posted On |
2022-05-16 |