Mutagenetix > Incidental Mutation

Incidental Mutation 'R9387:Gon4l'

710372

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) question?

Stock #

R9387 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88742531-88817406 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88802260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 957 (E957G)

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: E957G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000080397
Gene: ENSMUSG00000054199
AA Change: E957G

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: E958G

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000088461
Gene: ENSMUSG00000054199
AA Change: E958G

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: E957G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103122
Gene: ENSMUSG00000054199
AA Change: E957G

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: ENSMUST00000212694

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (44/44)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,553,255 (GRCm39)	D152G	probably benign	Het
Abcb1b	G	A	5: 8,875,614 (GRCm39)	V596I	probably benign	Het
Acss3	A	G	10: 106,959,255 (GRCm39)	S64P	probably damaging	Het
Aggf1	T	C	13: 95,507,461 (GRCm39)	Y108C	probably damaging	Het
Arpc5l	T	C	2: 38,903,195 (GRCm39)	V73A	probably benign	Het
Atp5f1d	A	G	10: 79,981,134 (GRCm39)	D126G	probably damaging	Het
Carmil3	T	A	14: 55,731,869 (GRCm39)	L199*	probably null	Het
Cblb	A	G	16: 51,853,515 (GRCm39)	R44G	probably benign	Het
Cdcp3	A	G	7: 130,863,620 (GRCm39)	I1208V	unknown	Het
Chaf1b	T	G	16: 93,689,629 (GRCm39)	F225V	probably benign	Het
Creb3l2	A	T	6: 37,356,751 (GRCm39)	N105K	probably damaging	Het
Dagla	A	T	19: 10,248,465 (GRCm39)	I65N	probably damaging	Het
Dclre1c	T	G	2: 3,425,342 (GRCm39)	F30V	probably damaging	Het
Dicer1	A	G	12: 104,695,499 (GRCm39)	V144A	possibly damaging	Het
Dlg5	C	T	14: 24,197,168 (GRCm39)	G1593D	probably damaging	Het
Enpp3	A	T	10: 24,711,990 (GRCm39)	M1K	probably null	Het
Fmod	C	A	1: 133,968,514 (GRCm39)	H185N	probably benign	Het
Hat1	A	G	2: 71,264,512 (GRCm39)	M310V	possibly damaging	Het
Klhl31	A	T	9: 77,557,826 (GRCm39)	T181S	probably benign	Het
Krt36	T	A	11: 99,994,906 (GRCm39)	E222V	probably damaging	Het
Lrrc27	A	T	7: 138,807,837 (GRCm39)	K315*	probably null	Het
Mak16	T	G	8: 31,650,794 (GRCm39)	D232A	probably damaging	Het
Mepce	A	G	5: 137,783,322 (GRCm39)	S335P	possibly damaging	Het
Mki67	T	A	7: 135,302,378 (GRCm39)	R885S	probably damaging	Het
Mmrn1	G	A	6: 60,935,176 (GRCm39)	W224*	probably null	Het
Mroh8	T	A	2: 157,098,386 (GRCm39)	Q254L	possibly damaging	Het
Mup18	A	T	4: 61,590,854 (GRCm39)	V101E	probably damaging	Het
Nbea	T	C	3: 55,898,460 (GRCm39)	K1508R	probably benign	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Or5g9	A	G	2: 85,551,806 (GRCm39)	Y19C	probably benign	Het
Pcdh15	A	T	10: 74,066,192 (GRCm39)	I286F	probably damaging	Het
Pcdhb8	A	T	18: 37,488,751 (GRCm39)	Q143L	probably benign	Het
Pibf1	T	C	14: 99,448,436 (GRCm39)	S632P	probably damaging	Het
Senp6	A	G	9: 79,999,646 (GRCm39)	K100R	probably damaging	Het
Slc5a9	A	G	4: 111,750,864 (GRCm39)	S81P	probably damaging	Het
Sox8	T	C	17: 25,786,338 (GRCm39)	Q455R	probably damaging	Het
Stard13	A	T	5: 151,113,483 (GRCm39)	M26K	probably benign	Het
Sulf1	T	A	1: 12,908,778 (GRCm39)	M597K	probably benign	Het
Ugt2a3	T	A	5: 87,484,832 (GRCm39)	D64V	probably benign	Het
Unc80	T	C	1: 66,589,097 (GRCm39)		probably null	Het
Vav3	A	T	3: 109,565,291 (GRCm39)	H729L	probably benign	Het
Vmn1r226	T	A	17: 20,907,831 (GRCm39)	L21Q	probably damaging	Het
Wdtc1	A	G	4: 133,036,058 (GRCm39)		probably null	Het
Zfp984	A	G	4: 147,840,002 (GRCm39)	M283T	probably benign	Het
Zik1	A	G	7: 10,224,623 (GRCm39)	L158P	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
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
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'- TAACGTCTGCTGTGTTCTAGAGC -3'
(R):5'- TGAGGAATCTGGACCACTGTG -3'

Sequencing Primer
(F):5'- CTAGAGCAGAGTGTTCTTGTCC -3'
(R):5'- GAACTTCTGACTGAGTTGGCCAC -3'

Posted On

2022-04-18