Mutagenetix > Incidental Mutation

Incidental Mutation 'R7475:Foxj2'

579408

Institutional Source

Beutler Lab

Gene Symbol

Foxj2

Ensembl Gene

ENSMUSG00000003154

Gene Name

forkhead box J2

Synonyms

Fhx

MMRRC Submission

045549-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.510) question?

Stock #

R7475 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122797143-122822325 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122814801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 279 (D279G)

Ref Sequence

ENSEMBL: ENSMUSP00000003238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003238] [ENSMUST00000177927] [ENSMUST00000203075]

AlphaFold

Q9ES18

Predicted Effect

probably benign
Transcript: ENSMUST00000003238
AA Change: D279G

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000003238
Gene: ENSMUSG00000003154
AA Change: D279G

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
FH	64	153	1.77e-47	SMART
low complexity region	207	222	N/A	INTRINSIC
low complexity region	266	275	N/A	INTRINSIC
low complexity region	290	314	N/A	INTRINSIC
low complexity region	359	393	N/A	INTRINSIC
low complexity region	535	549	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177927
AA Change: D279G

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000137645
Gene: ENSMUSG00000003154
AA Change: D279G

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
FH	64	153	1.77e-47	SMART
low complexity region	207	222	N/A	INTRINSIC
low complexity region	266	275	N/A	INTRINSIC
low complexity region	290	314	N/A	INTRINSIC
low complexity region	359	393	N/A	INTRINSIC
low complexity region	535	549	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203075

SMART Domains

Protein: ENSMUSP00000145438
Gene: ENSMUSG00000003154

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
FH	64	153	7.8e-50	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	T	16: 20,218,739 (GRCm39)	N214K	probably benign	Het
Abcf1	A	G	17: 36,274,459 (GRCm39)		probably null	Het
Agxt2	A	T	15: 10,409,623 (GRCm39)	M508L	probably benign	Het
Akr1c21	A	T	13: 4,626,318 (GRCm39)	Y114F	probably benign	Het
Amz1	T	C	5: 140,729,941 (GRCm39)		probably null	Het
Ank1	G	T	8: 23,622,646 (GRCm39)	A1732S	probably benign	Het
Atg16l1	T	C	1: 87,687,805 (GRCm39)	S50P	possibly damaging	Het
AW551984	A	G	9: 39,509,236 (GRCm39)	S302P	probably damaging	Het
Ccn6	T	A	10: 39,034,296 (GRCm39)	Y102F	probably damaging	Het
Ces3a	T	A	8: 105,780,322 (GRCm39)		probably null	Het
Dedd	C	A	1: 171,167,881 (GRCm39)	P185Q	probably benign	Het
Fam186a	A	T	15: 99,845,395 (GRCm39)	V283E	unknown	Het
Fat2	C	A	11: 55,194,479 (GRCm39)	V1187F	probably benign	Het
Fbxw11	T	C	11: 32,661,999 (GRCm39)		probably null	Het
Fcgbp	C	T	7: 27,802,401 (GRCm39)	T1443I	probably damaging	Het
Gbp5	A	G	3: 142,207,122 (GRCm39)	D97G	probably damaging	Het
Gm49368	A	T	7: 127,707,154 (GRCm39)	T661S	possibly damaging	Het
Gria4	T	G	9: 4,513,330 (GRCm39)	T260P	probably damaging	Het
Gtf2ird2	T	A	5: 134,230,267 (GRCm39)	D195E	possibly damaging	Het
Hectd4	T	A	5: 121,496,196 (GRCm39)		probably null	Het
Ifngr2	G	A	16: 91,354,797 (GRCm39)	C32Y	unknown	Het
Ikzf5	A	T	7: 130,993,788 (GRCm39)	C280S	probably benign	Het
Ints9	G	T	14: 65,263,914 (GRCm39)	E395D	probably null	Het
Isoc2b	T	C	7: 4,854,084 (GRCm39)	D96G	probably benign	Het
Jmjd1c	T	G	10: 67,061,092 (GRCm39)	S967R	probably benign	Het
Kcnj3	A	T	2: 55,327,338 (GRCm39)	K42N	probably benign	Het
Kiz	T	C	2: 146,733,006 (GRCm39)	V394A	possibly damaging	Het
Knl1	A	T	2: 118,918,027 (GRCm39)	H1795L	probably damaging	Het
Lmntd2	A	G	7: 140,790,602 (GRCm39)		probably null	Het
Loxhd1	C	A	18: 77,500,001 (GRCm39)	D1690E	possibly damaging	Het
Lrp1b	T	C	2: 41,234,588 (GRCm39)	D1121G		Het
Map3k2	T	C	18: 32,333,015 (GRCm39)	V63A	possibly damaging	Het
Mcc	G	T	18: 44,609,303 (GRCm39)	A499D	probably damaging	Het
Mcpt9	T	A	14: 56,264,400 (GRCm39)	I232F	probably damaging	Het
Meltf	A	G	16: 31,700,756 (GRCm39)	K92R	probably benign	Het
Mff	T	A	1: 82,723,159 (GRCm39)		probably null	Het
Mrgpra3	T	A	7: 47,239,695 (GRCm39)	Y77F	probably damaging	Het
Mylk	G	A	16: 34,734,446 (GRCm39)		probably null	Het
Ndufv2	A	G	17: 66,394,532 (GRCm39)	V111A	possibly damaging	Het
Nkd2	T	C	13: 73,973,861 (GRCm39)	E99G	probably damaging	Het
Nlk	C	A	11: 78,474,225 (GRCm39)	G358V	probably damaging	Het
Nnmt	A	T	9: 48,503,532 (GRCm39)	C165S	probably damaging	Het
Nxpe4	T	A	9: 48,304,640 (GRCm39)	C242*	probably null	Het
Oas1b	A	T	5: 120,955,705 (GRCm39)	N162I	probably damaging	Het
Or4s2	A	G	2: 88,473,554 (GRCm39)	I148V	probably benign	Het
Otog	A	G	7: 45,916,700 (GRCm39)	N879S	probably damaging	Het
Pcsk7	T	A	9: 45,838,923 (GRCm39)	Y612N	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pgbd5	T	C	8: 125,160,750 (GRCm39)	D39G	probably benign	Het
Pkhd1l1	C	T	15: 44,368,581 (GRCm39)	Q800*	probably null	Het
Pkn3	T	C	2: 29,977,122 (GRCm39)	S621P	probably benign	Het
Polr3c	T	C	3: 96,622,501 (GRCm39)	I385V	probably benign	Het
Ppp1r21	G	T	17: 88,863,031 (GRCm39)	G257W	probably benign	Het
Prkn	A	G	17: 11,653,501 (GRCm39)	D199G	probably benign	Het
Pxylp1	C	T	9: 96,738,420 (GRCm39)		probably null	Het
Rasgrp1	T	C	2: 117,116,589 (GRCm39)	T613A	probably benign	Het
Robo3	C	T	9: 37,336,674 (GRCm39)	V387I	probably benign	Het
Rxfp2	T	A	5: 149,973,046 (GRCm39)	Y174N	possibly damaging	Het
Sec24a	T	C	11: 51,604,379 (GRCm39)	M746V	probably damaging	Het
Sema4f	T	A	6: 82,891,355 (GRCm39)	E571D	possibly damaging	Het
Septin3	T	C	15: 82,170,657 (GRCm39)	V217A	probably benign	Het
Serpinb1b	A	C	13: 33,277,548 (GRCm39)	K260N	probably benign	Het
Sin3b	A	G	8: 73,476,500 (GRCm39)	T645A	possibly damaging	Het
Sobp	C	T	10: 42,897,830 (GRCm39)	R585Q	probably damaging	Het
Specc1l	T	A	10: 75,082,281 (GRCm39)	L559Q	possibly damaging	Het
Srxn1	C	T	2: 151,947,573 (GRCm39)		probably benign	Het
Sspo	G	A	6: 48,432,794 (GRCm39)	R890Q	probably benign	Het
Stard9	A	G	2: 120,518,591 (GRCm39)	D505G	probably damaging	Het
Tjp1	A	T	7: 64,972,087 (GRCm39)	I653K	probably damaging	Het
Tnks	C	T	8: 35,298,866 (GRCm39)	E1296K	probably damaging	Het
Ttbk2	A	T	2: 120,579,121 (GRCm39)	I667N	probably benign	Het
Usp24	T	C	4: 106,199,550 (GRCm39)	S165P	possibly damaging	Het
Usp46	T	A	5: 74,189,598 (GRCm39)	K109*	probably null	Het
Vmn1r191	A	G	13: 22,362,942 (GRCm39)	C271R	probably benign	Het
Zfp592	T	C	7: 80,673,200 (GRCm39)	S55P	probably damaging	Het
Zmynd15	T	C	11: 70,351,867 (GRCm39)	S158P	probably benign	Het
Zscan22	T	G	7: 12,640,664 (GRCm39)	C303G	probably damaging	Het

Other mutations in Foxj2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Foxj2	APN	6	122,816,594 (GRCm39)	missense	probably damaging	1.00
IGL01100:Foxj2	APN	6	122,805,350 (GRCm39)	missense	probably damaging	1.00
IGL02169:Foxj2	APN	6	122,805,425 (GRCm39)	missense	probably damaging	0.98
IGL02220:Foxj2	APN	6	122,815,540 (GRCm39)	splice site	probably benign
IGL02423:Foxj2	APN	6	122,819,732 (GRCm39)	missense	possibly damaging	0.90
IGL03026:Foxj2	APN	6	122,815,139 (GRCm39)	missense	probably benign	0.38
IGL03198:Foxj2	APN	6	122,809,966 (GRCm39)	critical splice donor site	probably null
R0400:Foxj2	UTSW	6	122,810,767 (GRCm39)	missense	possibly damaging	0.69
R1572:Foxj2	UTSW	6	122,810,220 (GRCm39)	missense	probably benign	0.00
R2063:Foxj2	UTSW	6	122,817,200 (GRCm39)	missense	probably benign	0.01
R2568:Foxj2	UTSW	6	122,805,331 (GRCm39)	missense	probably damaging	1.00
R2877:Foxj2	UTSW	6	122,819,791 (GRCm39)	missense	probably damaging	0.96
R4745:Foxj2	UTSW	6	122,814,948 (GRCm39)	missense	probably damaging	1.00
R4763:Foxj2	UTSW	6	122,810,230 (GRCm39)	missense	probably benign	0.27
R4764:Foxj2	UTSW	6	122,810,230 (GRCm39)	missense	probably benign	0.27
R4765:Foxj2	UTSW	6	122,810,230 (GRCm39)	missense	probably benign	0.27
R4775:Foxj2	UTSW	6	122,810,230 (GRCm39)	missense	probably benign	0.27
R5056:Foxj2	UTSW	6	122,810,833 (GRCm39)	missense	probably benign	0.00
R5816:Foxj2	UTSW	6	122,810,695 (GRCm39)	missense	probably benign
R6254:Foxj2	UTSW	6	122,815,098 (GRCm39)	missense	probably damaging	0.98
R6265:Foxj2	UTSW	6	122,805,133 (GRCm39)	missense	probably damaging	0.99
R6540:Foxj2	UTSW	6	122,810,202 (GRCm39)	missense	probably benign
R6882:Foxj2	UTSW	6	122,805,464 (GRCm39)	critical splice donor site	probably null
R6981:Foxj2	UTSW	6	122,819,798 (GRCm39)	missense	probably benign	0.14
R6981:Foxj2	UTSW	6	122,805,403 (GRCm39)	missense	probably damaging	1.00
R7295:Foxj2	UTSW	6	122,817,190 (GRCm39)	missense	probably benign	0.14
R8075:Foxj2	UTSW	6	122,815,055 (GRCm39)	nonsense	probably null
R8287:Foxj2	UTSW	6	122,805,226 (GRCm39)	missense	possibly damaging	0.48
R8320:Foxj2	UTSW	6	122,810,649 (GRCm39)	missense	probably benign	0.05
R8511:Foxj2	UTSW	6	122,808,404 (GRCm39)	nonsense	probably null
R9498:Foxj2	UTSW	6	122,819,792 (GRCm39)	missense	probably damaging	0.96
Z1176:Foxj2	UTSW	6	122,810,670 (GRCm39)	missense	probably benign
Z1176:Foxj2	UTSW	6	122,809,895 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATTTCCGTGGTCTCCAGTG -3'
(R):5'- TGGTGTAGTACAGCCATCAGG -3'

Sequencing Primer
(F):5'- CCGGTCTGTTATCTACCAGAAGG -3'
(R):5'- CCATCAGGGCTTGGGGTG -3'

Posted On

2019-10-07