Mutagenetix > Incidental Mutation

Incidental Mutation 'R6829:Gon4l'

534292

Institutional Source

Beutler Lab

Gene Symbol

Gon4l

Ensembl Gene

ENSMUSG00000054199

Gene Name

gon-4 like

Synonyms

1500041I23Rik, 2610100B20Rik

MMRRC Submission

044939-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R6829 (G1)

Quality Score

107.008

Status

Validated

Chromosome

Chromosomal Location

88742531-88817406 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88787413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 600 (D600E)

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: D600E

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000080397
Gene: ENSMUSG00000054199
AA Change: D600E

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: D601E

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000088461
Gene: ENSMUSG00000054199
AA Change: D601E

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: D600E

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103122
Gene: ENSMUSG00000054199
AA Change: D600E

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: ENSMUST00000212694
AA Change: D300E

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.0620

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

98% (40/41)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	T	14: 66,265,446 (GRCm39)		probably null	Het
Adamts5	A	T	16: 85,666,959 (GRCm39)	M511K	possibly damaging	Het
Adcy9	A	G	16: 4,125,018 (GRCm39)		probably null	Het
Cast	T	C	13: 74,876,463 (GRCm39)	E113G	possibly damaging	Het
Ccdc198	A	G	14: 49,464,025 (GRCm39)	*295Q	probably null	Het
Dcaf1	T	A	9: 106,715,803 (GRCm39)	S307T	probably damaging	Het
Dmxl1	C	T	18: 50,054,091 (GRCm39)	P2566S	probably damaging	Het
Elac2	A	G	11: 64,880,190 (GRCm39)	E111G	probably benign	Het
Fbxw4	A	G	19: 45,624,813 (GRCm39)	F57S	possibly damaging	Het
Gm17655	T	G	5: 110,194,792 (GRCm39)	H330P	probably damaging	Het
Gm2a	T	C	11: 54,994,576 (GRCm39)		probably null	Het
Gsg1l2	T	C	11: 67,665,684 (GRCm39)	I84T	possibly damaging	Het
Igsf9	A	G	1: 172,323,241 (GRCm39)	R652G	probably benign	Het
Il17rd	C	T	14: 26,809,379 (GRCm39)	R112*	probably null	Het
Jph1	C	A	1: 17,074,647 (GRCm39)	R457L	probably damaging	Het
Khdrbs3	T	C	15: 68,964,810 (GRCm39)	V249A	possibly damaging	Het
Mocs2	A	G	13: 114,955,980 (GRCm39)	S43G	probably benign	Het
Myom2	T	A	8: 15,172,643 (GRCm39)	L1190*	probably null	Het
Or2w1	T	A	13: 21,317,023 (GRCm39)	I26N	possibly damaging	Het
Or4f62	G	C	2: 111,986,139 (GRCm39)		probably benign	Het
Or5ac16	A	G	16: 59,021,898 (GRCm39)	V297A	probably damaging	Het
Or8k33	A	T	2: 86,383,613 (GRCm39)	L285*	probably null	Het
Pgc	A	T	17: 48,043,706 (GRCm39)		probably null	Het
Plch1	T	G	3: 63,604,939 (GRCm39)	D1655A	probably damaging	Het
Pnliprp2	G	A	19: 58,748,305 (GRCm39)	G29R	probably benign	Het
Polg	A	G	7: 79,109,857 (GRCm39)	V382A	probably benign	Het
Rb1cc1	T	C	1: 6,319,488 (GRCm39)	I969T	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Sdf2l1	C	G	16: 16,950,158 (GRCm39)	R6P	probably benign	Het
Sema7a	A	G	9: 57,868,181 (GRCm39)	E538G	probably benign	Het
Slc2a2	C	T	3: 28,781,590 (GRCm39)	Q513*	probably null	Het
Slc4a8	A	G	15: 100,698,419 (GRCm39)	Y636C	probably damaging	Het
Tasor	A	G	14: 27,164,438 (GRCm39)	D248G	possibly damaging	Het
Trpm5	A	G	7: 142,623,166 (GRCm39)		probably benign	Het
Vmn1r14	T	C	6: 57,210,536 (GRCm39)	L38P	probably benign	Het
Washc4	T	C	10: 83,396,380 (GRCm39)	S397P	probably damaging	Het
Wfdc3	C	T	2: 164,576,178 (GRCm39)	G38R	possibly damaging	Het
Zan	A	G	5: 137,414,540 (GRCm39)		probably benign	Het
Zfhx3	C	T	8: 109,676,915 (GRCm39)	T2655M	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
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'- CTCTGTTTTGGGTCGCAAC -3'
(R):5'- TGCTCTGCCCCAAAACAAGG -3'

Sequencing Primer
(F):5'- GGGTCGCAACATTATTAAAGTCCCTG -3'
(R):5'- GGGCTCCCCATCCTAAGTAAGAG -3'

Posted On

2018-09-12