Incidental Mutation 'R0961:Gon4l'
| ID |
81864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gon4l
|
| Ensembl Gene |
ENSMUSG00000054199 |
| Gene Name |
gon-4 like |
| Synonyms |
1500041I23Rik, 2610100B20Rik |
| MMRRC Submission |
039090-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.891)
|
| Stock # |
R0961 (G1)
|
| Quality Score |
115 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
88742531-88817406 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 88805403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000080397
Gene: ENSMUSG00000054199
| 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
|
| SMART Domains |
Protein: ENSMUSP00000088461
Gene: ENSMUSG00000054199
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103122
Gene: ENSMUSG00000054199
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 95.6%
- 20x: 89.7%
|
| Validation Efficiency |
100% (60/60) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
C |
2: 151,314,686 (GRCm39) |
S331A |
probably benign |
Het |
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| 4933412E24Rik |
T |
C |
15: 59,887,160 (GRCm39) |
I427V |
probably benign |
Het |
| Abca15 |
A |
T |
7: 119,960,208 (GRCm39) |
K664* |
probably null |
Het |
| Adcy8 |
A |
G |
15: 64,626,711 (GRCm39) |
V709A |
possibly damaging |
Het |
| Aox1 |
T |
A |
1: 58,349,230 (GRCm39) |
D665E |
probably benign |
Het |
| Arhgap22 |
C |
T |
14: 33,089,070 (GRCm39) |
T352M |
probably damaging |
Het |
| Atg9a |
G |
A |
1: 75,163,390 (GRCm39) |
L237F |
probably damaging |
Het |
| Ccdc178 |
T |
G |
18: 22,152,098 (GRCm39) |
K672T |
possibly damaging |
Het |
| Ccdc63 |
T |
G |
5: 122,249,009 (GRCm39) |
K440T |
possibly damaging |
Het |
| Cd55b |
A |
T |
1: 130,341,813 (GRCm39) |
W275R |
probably damaging |
Het |
| Col4a3 |
T |
C |
1: 82,686,297 (GRCm39) |
|
probably benign |
Het |
| Dmpk |
C |
G |
7: 18,821,195 (GRCm39) |
D204E |
probably damaging |
Het |
| Egfr |
T |
C |
11: 16,812,964 (GRCm39) |
V148A |
probably damaging |
Het |
| F11 |
A |
T |
8: 45,694,531 (GRCm39) |
V610E |
probably damaging |
Het |
| Fam83b |
A |
T |
9: 76,398,577 (GRCm39) |
I842N |
probably damaging |
Het |
| Fbxw9 |
T |
C |
8: 85,788,658 (GRCm39) |
Y165H |
probably benign |
Het |
| Fzd6 |
C |
T |
15: 38,889,073 (GRCm39) |
L64F |
probably damaging |
Het |
| Galntl6 |
A |
T |
8: 59,364,374 (GRCm39) |
H45Q |
probably benign |
Het |
| Gbp7 |
C |
A |
3: 142,247,318 (GRCm39) |
S276* |
probably null |
Het |
| Gnb5 |
A |
T |
9: 75,242,933 (GRCm39) |
I168F |
probably damaging |
Het |
| Gpat4 |
C |
T |
8: 23,670,927 (GRCm39) |
C95Y |
probably damaging |
Het |
| Gstm7 |
T |
A |
3: 107,834,302 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
A |
G |
6: 24,755,745 (GRCm39) |
|
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kank4 |
G |
A |
4: 98,644,756 (GRCm39) |
R999W |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,379,219 (GRCm39) |
V92A |
probably benign |
Het |
| Klhl9 |
T |
C |
4: 88,639,974 (GRCm39) |
D89G |
probably benign |
Het |
| Klre1 |
A |
G |
6: 129,559,378 (GRCm39) |
T103A |
probably benign |
Het |
| Lamc1 |
CGCTGGC |
CGC |
1: 153,097,392 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
G |
T |
1: 153,097,446 (GRCm39) |
L1533I |
probably benign |
Het |
| Lca5l |
T |
C |
16: 95,962,560 (GRCm39) |
H455R |
possibly damaging |
Het |
| Lmo7 |
C |
A |
14: 102,031,705 (GRCm39) |
T33K |
probably benign |
Het |
| Lrig1 |
A |
G |
6: 94,640,895 (GRCm39) |
|
probably benign |
Het |
| Mep1b |
T |
A |
18: 21,221,786 (GRCm39) |
Y245* |
probably null |
Het |
| Mettl24 |
A |
G |
10: 40,686,615 (GRCm39) |
T331A |
possibly damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,422,271 (GRCm39) |
D2467E |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,773,280 (GRCm39) |
S1871P |
probably benign |
Het |
| Ncbp1 |
T |
C |
4: 46,165,193 (GRCm39) |
L502P |
possibly damaging |
Het |
| Npr1 |
T |
C |
3: 90,366,028 (GRCm39) |
N588D |
possibly damaging |
Het |
| Or2g7 |
T |
A |
17: 38,378,814 (GRCm39) |
Y251N |
probably damaging |
Het |
| Or8k16 |
A |
T |
2: 85,519,790 (GRCm39) |
T6S |
probably benign |
Het |
| Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
| Phactr4 |
A |
G |
4: 132,105,731 (GRCm39) |
S112P |
probably benign |
Het |
| R3hdm1 |
C |
T |
1: 128,121,333 (GRCm39) |
T279I |
probably benign |
Het |
| Rere |
A |
G |
4: 150,699,829 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,709,122 (GRCm39) |
E4779V |
unknown |
Het |
| Sh2d4b |
A |
G |
14: 40,596,139 (GRCm39) |
V81A |
probably benign |
Het |
| Slc10a5 |
T |
C |
3: 10,399,484 (GRCm39) |
H392R |
probably benign |
Het |
| Slc26a4 |
T |
C |
12: 31,585,618 (GRCm39) |
T477A |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,865,618 (GRCm39) |
V922A |
possibly damaging |
Het |
| Sptan1 |
T |
A |
2: 29,870,075 (GRCm39) |
|
probably null |
Het |
| Stard9 |
A |
G |
2: 120,523,920 (GRCm39) |
D705G |
probably benign |
Het |
| Tdpoz3 |
T |
A |
3: 93,734,188 (GRCm39) |
S288T |
probably benign |
Het |
| Tsga10 |
A |
G |
1: 37,800,509 (GRCm39) |
|
probably null |
Het |
| Usp18 |
G |
A |
6: 121,238,452 (GRCm39) |
A200T |
probably benign |
Het |
| Zfp759 |
A |
T |
13: 67,287,927 (GRCm39) |
T493S |
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 |
|
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 |
|
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'- AAGCAAAGCTGTCCTCAGGACCTC -3'
(R):5'- AGCTTGGAGAGCTGCTGCACTTAC -3'
Sequencing Primer
(F):5'- tccactcctctctcctcttc -3'
(R):5'- TTGGCAGCATCTCCAACG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation