Incidental Mutation 'R5059:Gon4l'
| ID |
386500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gon4l
|
| Ensembl Gene |
ENSMUSG00000054199 |
| Gene Name |
gon-4 like |
| Synonyms |
1500041I23Rik, 2610100B20Rik |
| MMRRC Submission |
042649-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.903)
|
| Stock # |
R5059 (G1)
|
| Quality Score |
171 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
88742531-88817406 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88807319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1671
(M1671K)
|
| 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: M1671K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000080397
Gene: ENSMUSG00000054199
AA Change: M1671K
| 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 |
probably benign
Transcript: ENSMUST00000090942
AA Change: M1672K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000088461
Gene: ENSMUSG00000054199
AA Change: M1672K
| 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: M1671K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000103122
Gene: ENSMUSG00000054199
AA Change: M1671K
| 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: ENSMUST00000198113
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198251
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
98% (52/53) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26b |
T |
A |
8: 43,973,637 (GRCm39) |
N455I |
probably damaging |
Het |
| Alg12 |
A |
G |
15: 88,695,659 (GRCm39) |
F279S |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,776,360 (GRCm39) |
D296G |
probably damaging |
Het |
| Ank1 |
T |
A |
8: 23,586,204 (GRCm39) |
S437T |
probably damaging |
Het |
| Apol7a |
G |
A |
15: 77,274,012 (GRCm39) |
|
probably benign |
Het |
| Arhgef38 |
T |
A |
3: 132,843,175 (GRCm39) |
Y465F |
probably damaging |
Het |
| Atp8a2 |
T |
G |
14: 59,928,986 (GRCm39) |
T1023P |
probably benign |
Het |
| Cdh20 |
C |
A |
1: 109,993,430 (GRCm39) |
A295E |
probably damaging |
Het |
| Cela3b |
T |
C |
4: 137,152,181 (GRCm39) |
E92G |
probably benign |
Het |
| Cntnap5a |
T |
C |
1: 116,356,224 (GRCm39) |
S752P |
probably benign |
Het |
| Dlx2 |
T |
C |
2: 71,376,585 (GRCm39) |
H51R |
probably damaging |
Het |
| Dnm2 |
T |
C |
9: 21,415,874 (GRCm39) |
I736T |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,202,427 (GRCm39) |
T252A |
possibly damaging |
Het |
| Fbxo40 |
T |
C |
16: 36,790,658 (GRCm39) |
R151G |
possibly damaging |
Het |
| Gapdhs |
C |
T |
7: 30,431,410 (GRCm39) |
A357T |
probably benign |
Het |
| Gpi1 |
T |
C |
7: 33,907,113 (GRCm39) |
Y327C |
probably damaging |
Het |
| Gucy2g |
T |
C |
19: 55,214,503 (GRCm39) |
R542G |
probably benign |
Het |
| Hectd3 |
A |
G |
4: 116,854,361 (GRCm39) |
K308E |
possibly damaging |
Het |
| Hip1 |
A |
G |
5: 135,478,675 (GRCm39) |
F178S |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,232,401 (GRCm39) |
D1640G |
probably damaging |
Het |
| Il18r1 |
G |
A |
1: 40,520,227 (GRCm39) |
|
probably null |
Het |
| Kdm3b |
T |
C |
18: 34,910,250 (GRCm39) |
S23P |
possibly damaging |
Het |
| Lactb |
T |
C |
9: 66,882,426 (GRCm39) |
E83G |
probably benign |
Het |
| Larp4 |
A |
T |
15: 99,903,171 (GRCm39) |
D414V |
probably damaging |
Het |
| Map2k5 |
T |
C |
9: 63,164,296 (GRCm39) |
H336R |
probably benign |
Het |
| Mast4 |
T |
C |
13: 102,887,071 (GRCm39) |
E1006G |
probably damaging |
Het |
| Mbd5 |
T |
C |
2: 49,146,467 (GRCm39) |
S226P |
probably damaging |
Het |
| Micall1 |
A |
T |
15: 79,007,034 (GRCm39) |
|
probably benign |
Het |
| Mtpap |
T |
A |
18: 4,375,827 (GRCm39) |
|
probably benign |
Het |
| Or52ae7 |
A |
T |
7: 103,119,488 (GRCm39) |
K81* |
probably null |
Het |
| Or5p58 |
A |
G |
7: 107,694,522 (GRCm39) |
L85P |
probably damaging |
Het |
| Pnrc1 |
G |
A |
4: 33,246,072 (GRCm39) |
Q296* |
probably null |
Het |
| Poc1a |
G |
T |
9: 106,227,012 (GRCm39) |
|
probably benign |
Het |
| Pramel28 |
A |
G |
4: 143,691,565 (GRCm39) |
V386A |
probably damaging |
Het |
| Prkcsh |
T |
A |
9: 21,924,046 (GRCm39) |
L439Q |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,655,882 (GRCm39) |
L3970P |
probably damaging |
Het |
| Ptcd1 |
G |
A |
5: 145,089,034 (GRCm39) |
P542L |
probably benign |
Het |
| Rps6ka5 |
G |
A |
12: 100,520,634 (GRCm39) |
T631I |
probably damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,570,619 (GRCm39) |
N271S |
probably benign |
Het |
| Taf6 |
A |
G |
5: 138,177,709 (GRCm39) |
M541T |
probably benign |
Het |
| Tek |
T |
A |
4: 94,692,551 (GRCm39) |
C169S |
probably benign |
Het |
| Tgfbr3l |
T |
A |
8: 4,299,343 (GRCm39) |
|
probably null |
Het |
| Trpv3 |
A |
G |
11: 73,186,149 (GRCm39) |
N647D |
probably benign |
Het |
| Ube3c |
A |
G |
5: 29,836,293 (GRCm39) |
K638R |
probably null |
Het |
| Vmn1r191 |
G |
A |
13: 22,363,163 (GRCm39) |
A197V |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,445,044 (GRCm39) |
T894A |
possibly damaging |
Het |
| Vstm4 |
T |
G |
14: 32,585,687 (GRCm39) |
Y85D |
probably damaging |
Het |
| Wnt7a |
A |
G |
6: 91,371,482 (GRCm39) |
I160T |
probably benign |
Het |
| Zc3h7a |
TAGAGAG |
TAGAGAGAG |
16: 10,978,985 (GRCm39) |
|
probably null |
Het |
| Zfp988 |
A |
T |
4: 147,416,372 (GRCm39) |
K269* |
probably null |
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 |
|
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'- TGTGAAGGGAGCTCTCAGAG -3'
(R):5'- CGGGAAAACTGGAACTGTCTTG -3'
Sequencing Primer
(F):5'- TCTCAGAGCCGTGTGAGCAC -3'
(R):5'- GAAAACTGGAACTGTCTTGATTGGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation