Mutagenetix > Incidental Mutation

Incidental Mutation 'R4375:Gon4l'

325061

Institutional Source

Beutler Lab

Gene Symbol

Gon4l

Ensembl Gene

ENSMUSG00000054199

Gene Name

gon-4 like

Synonyms

1500041I23Rik, 2610100B20Rik

MMRRC Submission

041119-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R4375 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88742531-88817406 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 88814694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 1888 (P1888T)

Ref Sequence

ENSEMBL: ENSMUSP00000103122 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081695] [ENSMUST00000090942] [ENSMUST00000107494] [ENSMUST00000107498] [ENSMUST00000126245]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000081695
AA Change: P1888T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000080397
Gene: ENSMUSG00000054199
AA Change: P1888T

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: ENSMUST00000083302

Predicted Effect

probably benign
Transcript: ENSMUST00000090942
AA Change: P1889T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000088461
Gene: ENSMUSG00000054199
AA Change: P1889T

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: ENSMUST00000107494

SMART Domains

Protein: ENSMUSP00000103118
Gene: ENSMUSG00000068922

Domain	Start	End	E-Value	Type
low complexity region	50	63	N/A	INTRINSIC
Pfam:Tubulin_3	153	345	5.3e-28	PFAM
Pfam:Tubulin	169	300	7.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107498
AA Change: P1888T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000103122
Gene: ENSMUSG00000054199
AA Change: P1888T

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: ENSMUST00000126245

SMART Domains

Protein: ENSMUSP00000115645
Gene: ENSMUSG00000068922

Domain	Start	End	E-Value	Type
Pfam:Misat_Tub_SegII	6	120	2.1e-36	PFAM
Pfam:Tubulin_3	140	332	1.9e-27	PFAM
Pfam:Tubulin	151	288	8.7e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147828

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137243

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (37/37)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adhfe1	A	T	1: 9,631,853 (GRCm39)		probably benign	Het
Cd209c	T	C	8: 4,004,635 (GRCm39)		noncoding transcript	Het
Cntnap1	A	G	11: 101,073,079 (GRCm39)	D561G	probably damaging	Het
Csf1	T	A	3: 107,664,055 (GRCm39)	T38S	probably damaging	Het
Cyp4b1	T	C	4: 115,493,510 (GRCm39)	T191A	probably benign	Het
Dapk1	A	T	13: 60,909,403 (GRCm39)	M1339L	probably benign	Het
Dpm3	T	C	3: 89,174,215 (GRCm39)	Y59H	probably damaging	Het
Eif2ak4	A	G	2: 118,258,405 (GRCm39)	Y585C	probably damaging	Het
Ercc1	G	A	7: 19,081,057 (GRCm39)		probably benign	Het
Fam184b	T	C	5: 45,699,685 (GRCm39)	D577G	probably benign	Het
Hsf2bp	C	T	17: 32,206,322 (GRCm39)	D270N	probably null	Het
Lactbl1	T	C	4: 136,364,902 (GRCm39)	V418A	possibly damaging	Het
Lifr	A	T	15: 7,196,379 (GRCm39)	M188L	probably benign	Het
Ltbp1	G	T	17: 75,619,992 (GRCm39)	G760V	probably damaging	Het
Marchf11	A	G	15: 26,309,532 (GRCm39)	E62G	probably damaging	Het
Nlrp12	A	G	7: 3,289,576 (GRCm39)	L312P	possibly damaging	Het
Or1l4	T	A	2: 37,091,574 (GRCm39)	M107K	probably benign	Het
Or52ae7	T	C	7: 103,119,278 (GRCm39)	S11P	probably damaging	Het
Or8c20	T	C	9: 38,260,465 (GRCm39)	F23L	probably benign	Het
Pcdh17	T	C	14: 84,685,711 (GRCm39)	V726A	possibly damaging	Het
Pdia4	G	A	6: 47,775,326 (GRCm39)	R495W	probably damaging	Het
Phf20l1	T	C	15: 66,487,071 (GRCm39)	S369P	probably benign	Het
Polq	G	T	16: 36,833,543 (GRCm39)	V79F	probably damaging	Het
Prcc	A	G	3: 87,774,714 (GRCm39)	Y363H	probably damaging	Het
Proser3	A	G	7: 30,240,096 (GRCm39)	V336A	possibly damaging	Het
Rbbp8	C	T	18: 11,858,467 (GRCm39)	T646M	probably benign	Het
Rgs1	T	C	1: 144,123,644 (GRCm39)	T94A	probably benign	Het
Rpl11	G	A	4: 135,778,454 (GRCm39)		probably benign	Het
Slc14a2	G	A	18: 78,250,283 (GRCm39)	R62C	probably damaging	Het
Snx9	G	A	17: 5,958,901 (GRCm39)	W292*	probably null	Het
St14	T	C	9: 31,001,754 (GRCm39)	I784V	probably benign	Het
Steep1	C	A	X: 36,087,812 (GRCm39)	C206F	probably benign	Het
Strc	A	G	2: 121,211,304 (GRCm39)	S14P	unknown	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Ubap1	G	A	4: 41,371,850 (GRCm39)		probably null	Het
Zfr	T	C	15: 12,118,426 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TGGATCTTCACAGTGAGTTGATTAG -3'
(R):5'- GTGGTCAGTCACTTACCTGGAG -3'

Sequencing Primer
(F):5'- GTATCACAAATGGAGTCCTCATTAG -3'
(R):5'- TGGAGCAGGTGCCTCTC -3'

Posted On

2015-07-06