Mutagenetix > Incidental Mutation

Incidental Mutation 'R4998:Gon4l'

389617

Institutional Source

Beutler Lab

Gene Symbol

Gon4l

Ensembl Gene

ENSMUSG00000054199

Gene Name

gon-4 like

Synonyms

1500041I23Rik, 2610100B20Rik

MMRRC Submission

042592-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R4998 (G1)

Quality Score

179

Status

Not validated

Chromosome

Chromosomal Location

88742531-88817406 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 88807305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 1666 (E1666D)

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: E1666D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080397
Gene: ENSMUSG00000054199
AA Change: E1666D

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: E1667D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088461
Gene: ENSMUSG00000054199
AA Change: E1667D

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: E1666D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103122
Gene: ENSMUSG00000054199
AA Change: E1666D

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (91/94)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	C	7: 27,271,088 (GRCm39)	V135A	probably damaging	Het
Ankrd42	T	C	7: 92,273,282 (GRCm39)	N115S	possibly damaging	Het
Baz1a	T	C	12: 55,021,922 (GRCm39)	E120G	probably damaging	Het
Calcrl	A	T	2: 84,169,658 (GRCm39)	V341E	probably damaging	Het
Card6	T	C	15: 5,129,564 (GRCm39)	R611G	probably benign	Het
Cd70	A	T	17: 57,453,311 (GRCm39)	S118T	probably damaging	Het
Chil5	T	A	3: 105,927,248 (GRCm39)	I188F	probably damaging	Het
Clca4b	C	T	3: 144,621,269 (GRCm39)	V602I	probably benign	Het
Cldn10	G	A	14: 119,025,725 (GRCm39)	G53S	possibly damaging	Het
Col6a4	A	G	9: 105,867,977 (GRCm39)		probably benign	Het
Cox8b	T	C	7: 140,479,001 (GRCm39)	E38G	probably damaging	Het
Cx3cl1	C	G	8: 95,507,053 (GRCm39)	L353V	probably damaging	Het
Cyp2a4	G	T	7: 26,006,786 (GRCm39)	Q48H	probably damaging	Het
Defb8	T	C	8: 19,497,603 (GRCm39)	I3V	probably benign	Het
Dip2a	A	T	10: 76,155,390 (GRCm39)	L65*	probably null	Het
Dnaaf4	A	G	9: 72,867,960 (GRCm39)	T74A	possibly damaging	Het
Dsg2	A	T	18: 20,734,578 (GRCm39)	D852V	probably benign	Het
Edar	T	C	10: 58,441,915 (GRCm39)	R326G	probably damaging	Het
Egfr	A	G	11: 16,831,493 (GRCm39)	E554G	possibly damaging	Het
Eif2b3	A	C	4: 116,923,589 (GRCm39)	K268T	probably benign	Het
Enox1	A	T	14: 77,738,875 (GRCm39)		probably benign	Het
Enpp3	C	A	10: 24,683,436 (GRCm39)	M260I	probably benign	Het
Espn	A	T	4: 152,220,040 (GRCm39)	M361K	possibly damaging	Het
Fam107a	T	C	14: 8,299,514 (GRCm38)	N108S	possibly damaging	Het
Fbn2	A	T	18: 58,205,703 (GRCm39)	V1125D	probably damaging	Het
Fbxo30	T	A	10: 11,166,507 (GRCm39)	S410T	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fcsk	G	A	8: 111,614,435 (GRCm39)	A618V	probably damaging	Het
Gm10715	T	G	9: 3,038,073 (GRCm39)		probably benign	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Gm17416	C	A	2: 152,411,427 (GRCm39)	P57Q	probably damaging	Het
Gm27013	A	T	6: 130,653,501 (GRCm39)	C654S	probably damaging	Het
Gypa	T	A	8: 81,222,964 (GRCm39)	S23T	unknown	Het
Gys1	C	A	7: 45,100,968 (GRCm39)		probably benign	Het
Hdac10	T	A	15: 89,008,143 (GRCm39)	Q569L	possibly damaging	Het
Icos	A	G	1: 61,032,941 (GRCm39)	T47A	possibly damaging	Het
Igfn1	T	A	1: 135,882,404 (GRCm39)	I2814F	probably damaging	Het
Kif27	A	G	13: 58,440,957 (GRCm39)	S1153P	probably damaging	Het
Lin28a	A	C	4: 133,746,028 (GRCm39)	F9V	possibly damaging	Het
Lrriq3	T	A	3: 154,893,695 (GRCm39)	N465K	probably benign	Het
Lsm14a	T	C	7: 34,074,799 (GRCm39)	E47G	probably damaging	Het
Mmel1	A	G	4: 154,969,967 (GRCm39)	K177R	probably benign	Het
Ncstn	T	A	1: 171,899,087 (GRCm39)	N348I	possibly damaging	Het
Ninl	A	G	2: 150,795,284 (GRCm39)	I619T	probably damaging	Het
Npb	T	C	11: 120,499,401 (GRCm39)	Y23H	probably damaging	Het
Npepps	A	G	11: 97,096,933 (GRCm39)		probably benign	Het
Or8k30	T	C	2: 86,339,699 (GRCm39)	Y299H	probably benign	Het
Otop1	G	A	5: 38,451,892 (GRCm39)		probably null	Het
Pcdha1	T	C	18: 37,065,469 (GRCm39)	L711P	probably damaging	Het
Pcyt1a	A	G	16: 32,270,660 (GRCm39)		probably benign	Het
Pdpr	G	T	8: 111,841,400 (GRCm39)	V211F	probably damaging	Het
Pip4k2b	T	C	11: 97,613,261 (GRCm39)	N245S	possibly damaging	Het
Platr26	G	A	2: 71,561,214 (GRCm39)		noncoding transcript	Het
Plek	A	G	11: 16,933,194 (GRCm39)		probably null	Het
Potefam3c	G	C	8: 69,906,010 (GRCm39)	N13K	probably benign	Het
Prdm15	A	T	16: 97,595,689 (GRCm39)	D1046E	probably damaging	Het
Prr29	T	G	11: 106,267,779 (GRCm39)	C175G	probably benign	Het
Ptpru	A	G	4: 131,504,196 (GRCm39)	V1097A	probably damaging	Het
Ramp2	T	A	11: 101,138,247 (GRCm39)		probably benign	Het
Rap1gap	A	G	4: 137,455,595 (GRCm39)	D381G	possibly damaging	Het
Rbbp6	T	A	7: 122,589,549 (GRCm39)	D412E	probably benign	Het
Rgs4	C	T	1: 169,572,802 (GRCm39)	V45I	probably benign	Het
Ryr2	C	T	13: 11,658,781 (GRCm39)	R3614Q	probably damaging	Het
Shc3	G	A	13: 51,596,856 (GRCm39)		probably null	Het
Shmt2	A	T	10: 127,354,139 (GRCm39)	C412S	probably damaging	Het
Slc25a45	A	T	19: 5,934,945 (GRCm39)	N265Y	probably damaging	Het
Slc4a10	G	C	2: 62,074,783 (GRCm39)	E316Q	probably benign	Het
Slc5a8	T	C	10: 88,743,919 (GRCm39)		probably null	Het
Snx31	A	G	15: 36,539,513 (GRCm39)	V121A	probably damaging	Het
Socs3	T	C	11: 117,858,542 (GRCm39)	E172G	probably damaging	Het
Tg	A	G	15: 66,545,899 (GRCm39)	D207G	probably damaging	Het
Them4	G	T	3: 94,237,088 (GRCm39)	V183F	probably damaging	Het
Tkt	G	A	14: 30,287,499 (GRCm39)	W136*	probably null	Het
Tlcd3b	C	T	7: 126,426,795 (GRCm39)	R73C	probably damaging	Het
Tmc3	C	A	7: 83,271,529 (GRCm39)	R894S	probably benign	Het
Tmem132a	G	T	19: 10,836,305 (GRCm39)	P742T	probably benign	Het
Tmem202	A	G	9: 59,432,129 (GRCm39)	L66P	probably damaging	Het
Trbc1	G	A	6: 41,516,270 (GRCm39)		probably benign	Het
Trhr2	A	G	8: 123,085,511 (GRCm39)	F158L	probably benign	Het
Ttc13	A	T	8: 125,406,795 (GRCm39)	N595K	probably damaging	Het
Ucp1	A	G	8: 84,024,484 (GRCm39)		probably null	Het
Zbtb4	C	T	11: 69,669,497 (GRCm39)	T740I	probably benign	Het
Zfp69	A	T	4: 120,804,522 (GRCm39)	D116E	possibly damaging	Het
Zfp879	A	G	11: 50,728,796 (GRCm39)	L66S	probably damaging	Het
Zfp955b	T	A	17: 33,524,125 (GRCm39)		probably benign	Het
Zfyve1	T	C	12: 83,594,839 (GRCm39)	I718V	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
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
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'- AAAGGAGTTGTGCCTTGCTG -3'
(R):5'- AGTCAGCTGTAAAGTCTTTGCC -3'

Sequencing Primer
(F):5'- ACTCCTTGGGTCAGAGGAG -3'
(R):5'- TGCCCGTCAAAGTGGACTTAC -3'

Posted On

2016-06-06