Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02669:Gon4l'

302853

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gon4l

Ensembl Gene

ENSMUSG00000054199

Gene Name

gon-4 like

Synonyms

1500041I23Rik, 2610100B20Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.891) question?

Stock #

IGL02669

Quality Score

Status

Chromosome

Chromosomal Location

88742531-88817406 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88802806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1139 (V1139A)

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 damaging
Transcript: ENSMUST00000081695
AA Change: V1139A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080397
Gene: ENSMUSG00000054199
AA Change: V1139A

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 damaging
Transcript: ENSMUST00000090942
AA Change: V1140A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088461
Gene: ENSMUSG00000054199
AA Change: V1140A

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 damaging
Transcript: ENSMUST00000107498
AA Change: V1139A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103122
Gene: ENSMUSG00000054199
AA Change: V1139A

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

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930003A15Rik	T	A	16: 19,702,505 (GRCm39)		noncoding transcript	Het
Acap1	G	A	11: 69,785,421 (GRCm39)		probably benign	Het
Adam7	T	C	14: 68,745,343 (GRCm39)	Y627C	probably damaging	Het
Agrn	C	T	4: 156,259,018 (GRCm39)		probably benign	Het
Aoc1l2	A	G	6: 48,908,407 (GRCm39)	Y469C	probably damaging	Het
Bace2	T	C	16: 97,238,093 (GRCm39)	*515R	probably null	Het
Baiap3	C	T	17: 25,463,322 (GRCm39)	V958M	probably damaging	Het
Brms1l	A	T	12: 55,888,401 (GRCm39)	D63V	probably damaging	Het
Cnksr1	A	T	4: 133,957,774 (GRCm39)	I435N	probably damaging	Het
Col14a1	G	A	15: 55,282,178 (GRCm39)	G813E	unknown	Het
Cpne6	A	G	14: 55,751,283 (GRCm39)	N201S	probably benign	Het
Dnajc12	A	G	10: 63,233,071 (GRCm39)	S71G	probably damaging	Het
Dpp3	A	T	19: 4,973,710 (GRCm39)		probably null	Het
E2f3	A	G	13: 30,100,974 (GRCm39)	S239P	probably benign	Het
Eif3e	T	A	15: 43,146,088 (GRCm39)	M1L	probably benign	Het
Erap1	A	G	13: 74,823,987 (GRCm39)	T867A	probably benign	Het
Erlin1	G	T	19: 44,027,658 (GRCm39)	A260E	probably damaging	Het
Esrp1	A	G	4: 11,386,324 (GRCm39)	V38A	possibly damaging	Het
Foxn1	T	C	11: 78,261,986 (GRCm39)	R128G	probably damaging	Het
Gnb3	A	G	6: 124,814,688 (GRCm39)	L70P	probably benign	Het
Gpt2	G	T	8: 86,249,908 (GRCm39)	M463I	probably benign	Het
Gtpbp3	C	A	8: 71,943,546 (GRCm39)	A201D	probably damaging	Het
Jaml	A	C	9: 45,015,489 (GRCm39)	K331T	possibly damaging	Het
Kntc1	G	A	5: 123,893,727 (GRCm39)		probably benign	Het
Ksr2	A	G	5: 117,693,446 (GRCm39)	K298R	probably damaging	Het
Mfge8	T	C	7: 78,795,429 (GRCm39)	D46G	probably benign	Het
Ncam2	T	A	16: 81,314,429 (GRCm39)	N468K	probably benign	Het
Nup88	A	G	11: 70,847,110 (GRCm39)	M300T	probably damaging	Het
Or4c118	T	A	2: 88,974,564 (GRCm39)	K268*	probably null	Het
Or4k48	A	T	2: 111,476,236 (GRCm39)	Y35*	probably null	Het
Or52b4	A	G	7: 102,184,868 (GRCm39)	M305V	probably benign	Het
Prdm1	A	T	10: 44,315,880 (GRCm39)	M752K	probably benign	Het
Prl3b1	A	T	13: 27,429,795 (GRCm39)	M78L	probably benign	Het
Ralgps2	T	C	1: 156,660,268 (GRCm39)	E268G	probably damaging	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Slc4a5	A	G	6: 83,240,525 (GRCm39)	D279G	possibly damaging	Het
Tanc1	T	A	2: 59,630,330 (GRCm39)	I770K	probably damaging	Het
Tbl2	G	A	5: 135,181,852 (GRCm39)	R64H	probably damaging	Het
Tg	T	A	15: 66,620,575 (GRCm39)		probably benign	Het
Tmprss13	A	T	9: 45,243,824 (GRCm39)	I187F	probably benign	Het
Tubb3	T	C	8: 124,147,856 (GRCm39)	L263P	probably damaging	Het
Vmn2r109	T	G	17: 20,774,518 (GRCm39)	D279A	possibly damaging	Het
Vps33b	A	G	7: 79,925,786 (GRCm39)		probably benign	Het
Yeats2	A	G	16: 20,005,033 (GRCm39)	S338G	probably benign	Het
Zfp142	T	C	1: 74,610,432 (GRCm39)	Q1121R	probably benign	Het
Zic1	G	T	9: 91,246,486 (GRCm39)	H195Q	possibly 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
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
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

Posted On

2015-04-16