Incidental Mutation 'R6217:Gon4l'
ID |
503764 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gon4l
|
Ensembl Gene |
ENSMUSG00000054199 |
Gene Name |
gon-4 like |
Synonyms |
1500041I23Rik, 2610100B20Rik |
MMRRC Submission |
044350-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.903)
|
Stock # |
R6217 (G1)
|
Quality Score |
133.008 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
88742531-88817406 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88799968 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 871
(V871A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103122
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081695]
[ENSMUST00000090942]
[ENSMUST00000107498]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081695
AA Change: V871A
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000080397 Gene: ENSMUSG00000054199 AA Change: V871A
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: V872A
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000088461 Gene: ENSMUSG00000054199 AA Change: V872A
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 |
possibly damaging
Transcript: ENSMUST00000107498
AA Change: V871A
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103122 Gene: ENSMUSG00000054199 AA Change: V871A
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212694
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
97% (59/61) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abraxas2 |
G |
A |
7: 132,476,694 (GRCm39) |
A145T |
probably damaging |
Het |
Adamts20 |
T |
C |
15: 94,236,596 (GRCm39) |
D808G |
probably benign |
Het |
Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
Arsk |
T |
A |
13: 76,239,935 (GRCm39) |
Q46L |
unknown |
Het |
Asnsd1 |
A |
G |
1: 53,387,187 (GRCm39) |
F147L |
probably benign |
Het |
Atp5f1a |
T |
A |
18: 77,869,056 (GRCm39) |
S427T |
probably benign |
Het |
Atp6v1b2 |
A |
C |
8: 69,562,530 (GRCm39) |
|
probably null |
Het |
AU021092 |
T |
A |
16: 5,030,050 (GRCm39) |
T322S |
possibly damaging |
Het |
Bcl7c |
A |
T |
7: 127,307,698 (GRCm39) |
M1K |
probably null |
Het |
Cacna1i |
T |
C |
15: 80,273,333 (GRCm39) |
V1673A |
probably damaging |
Het |
Ccdc146 |
A |
T |
5: 21,522,900 (GRCm39) |
|
probably null |
Het |
Cdc7 |
A |
G |
5: 107,120,660 (GRCm39) |
D122G |
probably damaging |
Het |
Cfap46 |
CCTTCTTCT |
CCTTCT |
7: 139,218,816 (GRCm39) |
|
probably benign |
Het |
Chd3 |
T |
A |
11: 69,236,361 (GRCm39) |
Q1950L |
probably damaging |
Het |
Cutc |
T |
C |
19: 43,748,436 (GRCm39) |
L111S |
probably damaging |
Het |
Cyp2j6 |
A |
G |
4: 96,406,398 (GRCm39) |
F458L |
probably damaging |
Het |
Ddhd1 |
T |
C |
14: 45,856,971 (GRCm39) |
|
probably null |
Het |
Dstyk |
T |
C |
1: 132,387,677 (GRCm39) |
S804P |
probably damaging |
Het |
Ech1 |
A |
G |
7: 28,531,261 (GRCm39) |
D283G |
possibly damaging |
Het |
Exosc10 |
A |
G |
4: 148,666,768 (GRCm39) |
|
probably null |
Het |
Fancg |
A |
C |
4: 43,010,084 (GRCm39) |
V5G |
probably benign |
Het |
Fbxo11 |
A |
G |
17: 88,316,332 (GRCm39) |
V394A |
probably benign |
Het |
Fcmr |
C |
T |
1: 130,806,060 (GRCm39) |
R339W |
probably damaging |
Het |
Fhip2b |
T |
C |
14: 70,829,198 (GRCm39) |
|
probably null |
Het |
Fsip2 |
T |
A |
2: 82,818,762 (GRCm39) |
L4832M |
possibly damaging |
Het |
Gab1 |
A |
G |
8: 81,518,237 (GRCm39) |
V125A |
possibly damaging |
Het |
Gabrr1 |
A |
T |
4: 33,149,026 (GRCm39) |
|
probably null |
Het |
Hspg2 |
A |
G |
4: 137,267,559 (GRCm39) |
T2056A |
probably damaging |
Het |
Lrrc3 |
T |
A |
10: 77,736,843 (GRCm39) |
T198S |
probably benign |
Het |
Lsamp |
A |
T |
16: 41,954,675 (GRCm39) |
E174V |
possibly damaging |
Het |
Ltbr |
C |
T |
6: 125,284,417 (GRCm39) |
V342M |
probably damaging |
Het |
Muc16 |
A |
T |
9: 18,566,742 (GRCm39) |
S1926T |
unknown |
Het |
Ntn1 |
C |
A |
11: 68,104,158 (GRCm39) |
V497F |
possibly damaging |
Het |
Or2ag18 |
A |
T |
7: 106,405,279 (GRCm39) |
L130Q |
probably damaging |
Het |
Or5k17 |
T |
C |
16: 58,746,877 (GRCm39) |
D19G |
probably benign |
Het |
Or8g22 |
A |
T |
9: 38,958,039 (GRCm39) |
*270R |
probably null |
Het |
Osmr |
T |
C |
15: 6,853,047 (GRCm39) |
Y615C |
probably damaging |
Het |
Pcdhgb2 |
T |
C |
18: 37,823,054 (GRCm39) |
V15A |
possibly damaging |
Het |
Pkd2l2 |
A |
G |
18: 34,547,733 (GRCm39) |
N162S |
probably benign |
Het |
Ppp1r12a |
G |
A |
10: 108,076,045 (GRCm39) |
|
probably null |
Het |
Prss59 |
G |
A |
6: 40,903,019 (GRCm39) |
P118S |
possibly damaging |
Het |
Prtg |
C |
T |
9: 72,812,076 (GRCm39) |
P899S |
probably damaging |
Het |
Ptprn |
A |
T |
1: 75,224,810 (GRCm39) |
S912R |
probably damaging |
Het |
Rex2 |
A |
G |
4: 147,141,931 (GRCm39) |
T140A |
possibly damaging |
Het |
Ryr2 |
T |
G |
13: 11,848,964 (GRCm39) |
D339A |
probably damaging |
Het |
Sf3b1 |
C |
T |
1: 55,046,677 (GRCm39) |
R289H |
probably damaging |
Het |
Slc17a9 |
A |
G |
2: 180,379,455 (GRCm39) |
D309G |
probably benign |
Het |
Slc4a10 |
A |
G |
2: 62,134,295 (GRCm39) |
R1004G |
probably benign |
Het |
Sprr2f |
A |
T |
3: 92,273,366 (GRCm39) |
Q55L |
unknown |
Het |
Syne1 |
C |
T |
10: 5,243,761 (GRCm39) |
G2801D |
probably benign |
Het |
Tenm3 |
A |
T |
8: 48,746,700 (GRCm39) |
V1026D |
probably damaging |
Het |
Ticam1 |
A |
T |
17: 56,577,730 (GRCm39) |
I455N |
probably damaging |
Het |
Tmem161b |
A |
G |
13: 84,399,363 (GRCm39) |
I6M |
possibly damaging |
Het |
Ubn1 |
A |
G |
16: 4,895,096 (GRCm39) |
E714G |
probably damaging |
Het |
Ush2a |
T |
G |
1: 188,475,651 (GRCm39) |
|
probably null |
Het |
Usp19 |
G |
A |
9: 108,377,343 (GRCm39) |
V874M |
probably damaging |
Het |
Vmn2r106 |
T |
C |
17: 20,488,501 (GRCm39) |
T633A |
probably benign |
Het |
Vmn2r75 |
A |
T |
7: 85,815,375 (GRCm39) |
|
probably benign |
Het |
Zfyve27 |
T |
C |
19: 42,178,016 (GRCm39) |
V386A |
probably damaging |
Het |
Zscan20 |
A |
T |
4: 128,498,327 (GRCm39) |
W24R |
probably 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 |
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'- AACTCTCTAAGGGTGTGGGAGG -3'
(R):5'- AGTTCCAACCCTGCTGAGTAAC -3'
Sequencing Primer
(F):5'- GTTGAAGAGCTCCTTGCAGAACC -3'
(R):5'- TGCTGAGTAACACCACAGTAAG -3'
|
Posted On |
2018-02-27 |