Mutagenetix > Incidental Mutation

Incidental Mutation 'R4491:Focad'

330716

Institutional Source

Beutler Lab

Gene Symbol

Focad

Ensembl Gene

ENSMUSG00000038368

Gene Name

focadhesin

Synonyms

BC057079

MMRRC Submission

041747-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.539) question?

Stock #

R4491 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

88012866-88329248 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 88278142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097992] [ENSMUST00000097992] [ENSMUST00000159342]

AlphaFold

A2AKG8

Predicted Effect

probably null
Transcript: ENSMUST00000097992

SMART Domains

Protein: ENSMUSP00000095602
Gene: ENSMUSG00000038368

Domain	Start	End	E-Value	Type
low complexity region	150	161	N/A	INTRINSIC
low complexity region	194	203	N/A	INTRINSIC
low complexity region	264	273	N/A	INTRINSIC
low complexity region	328	338	N/A	INTRINSIC
low complexity region	348	361	N/A	INTRINSIC
Pfam:DUF3730	490	714	1.5e-71	PFAM
low complexity region	957	969	N/A	INTRINSIC
low complexity region	1032	1047	N/A	INTRINSIC
low complexity region	1200	1209	N/A	INTRINSIC
Pfam:DUF3028	1210	1798	1.5e-291	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000097992

SMART Domains

Protein: ENSMUSP00000095602
Gene: ENSMUSG00000038368

Domain	Start	End	E-Value	Type
low complexity region	150	161	N/A	INTRINSIC
low complexity region	194	203	N/A	INTRINSIC
low complexity region	264	273	N/A	INTRINSIC
low complexity region	328	338	N/A	INTRINSIC
low complexity region	348	361	N/A	INTRINSIC
Pfam:DUF3730	490	714	1.5e-71	PFAM
low complexity region	957	969	N/A	INTRINSIC
low complexity region	1032	1047	N/A	INTRINSIC
low complexity region	1200	1209	N/A	INTRINSIC
Pfam:DUF3028	1210	1798	1.5e-291	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000107148

Predicted Effect

probably null
Transcript: ENSMUST00000159342

SMART Domains

Protein: ENSMUSP00000124298
Gene: ENSMUSG00000038368

Domain	Start	End	E-Value	Type
Pfam:DUF3730	20	250	5.8e-27	PFAM
low complexity region	264	273	N/A	INTRINSIC
low complexity region	328	338	N/A	INTRINSIC
low complexity region	348	361	N/A	INTRINSIC
Pfam:DUF3730	403	633	2.8e-61	PFAM
low complexity region	871	883	N/A	INTRINSIC
low complexity region	946	961	N/A	INTRINSIC
low complexity region	1114	1123	N/A	INTRINSIC
Pfam:DUF3028	1124	1712	N/A	PFAM

Meta Mutation Damage Score

0.9593

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	A	5: 64,055,812 (GRCm39)	P183T	probably damaging	Het
Bcan	G	A	3: 87,897,540 (GRCm39)	R682*	probably null	Het
Bzw1	T	A	1: 58,443,418 (GRCm39)	L410Q	probably damaging	Het
Cdh5	A	T	8: 104,839,672 (GRCm39)	I48F	probably damaging	Het
Cdhr5	T	C	7: 140,853,970 (GRCm39)	N173D	possibly damaging	Het
Cfap74	T	C	4: 155,513,628 (GRCm39)	M480T	probably benign	Het
Col6a5	C	T	9: 105,817,211 (GRCm39)	A367T	unknown	Het
Cpsf1	A	C	15: 76,481,922 (GRCm39)	Y1064D	possibly damaging	Het
Defb6	A	T	8: 19,278,090 (GRCm39)	H54L	probably benign	Het
Dmtf1	A	G	5: 9,190,379 (GRCm39)		probably benign	Het
Dnah12	T	C	14: 26,455,758 (GRCm39)	L827S	possibly damaging	Het
Dnai4	T	C	4: 102,923,596 (GRCm39)	E411G	probably benign	Het
Dsc3	T	C	18: 20,134,922 (GRCm39)	T21A	probably benign	Het
Epb41l1	G	T	2: 156,364,088 (GRCm39)	D866Y	probably benign	Het
Epha1	T	C	6: 42,337,600 (GRCm39)	M860V	probably damaging	Het
Far2	T	C	6: 148,074,907 (GRCm39)	L380P	possibly damaging	Het
Fgd5	A	G	6: 91,966,280 (GRCm39)	I680V	possibly damaging	Het
Fnbp4	T	C	2: 90,583,312 (GRCm39)		probably null	Het
Gm14180	T	A	11: 99,621,139 (GRCm39)		probably benign	Het
Hbb-bh2	T	C	7: 103,489,622 (GRCm39)	T5A	probably benign	Het
Ighv7-2	A	G	12: 113,876,100 (GRCm39)	F2L	probably benign	Het
Igsf5	A	G	16: 96,165,281 (GRCm39)	T19A	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klb	A	G	5: 65,533,137 (GRCm39)	N482S	probably benign	Het
Lipo2	A	C	19: 33,699,100 (GRCm39)	L310R	probably damaging	Het
Mc3r	A	G	2: 172,091,123 (GRCm39)	H115R	possibly damaging	Het
Meioc	A	G	11: 102,565,746 (GRCm39)	D398G	possibly damaging	Het
Or10ag60	G	A	2: 87,437,736 (GRCm39)	M1I	probably null	Het
Or56a5	A	T	7: 104,792,983 (GRCm39)	C172*	probably null	Het
Or7a37	T	C	10: 78,806,151 (GRCm39)	S223P	probably damaging	Het
Pds5a	T	C	5: 65,792,780 (GRCm39)	T718A	probably benign	Het
Pdzd2	C	T	15: 12,385,723 (GRCm39)	D1016N	possibly damaging	Het
Pla2g2c	T	C	4: 138,461,719 (GRCm39)		probably null	Het
Plch1	T	C	3: 63,648,160 (GRCm39)	I404V	probably damaging	Het
Pou2af3	A	G	9: 51,181,955 (GRCm39)	F206L	probably benign	Het
Ppp2r5c	A	T	12: 110,546,956 (GRCm39)	D522V	possibly damaging	Het
Prex2	T	A	1: 11,232,487 (GRCm39)	S851R	probably benign	Het
Rapgef1	C	T	2: 29,609,668 (GRCm39)	P702S	possibly damaging	Het
Rasal3	T	A	17: 32,610,359 (GRCm39)	D976V	probably damaging	Het
Rasef	A	C	4: 73,652,740 (GRCm39)	L587R	probably damaging	Het
Rptn	A	T	3: 93,303,818 (GRCm39)	R384*	probably null	Het
Sema6a	G	A	18: 47,439,524 (GRCm39)		probably benign	Het
Sycp2	G	T	2: 178,016,778 (GRCm39)	T608K	probably damaging	Het
Syde1	C	T	10: 78,426,062 (GRCm39)	R35H	probably benign	Het
Taf1	G	T	X: 100,586,665 (GRCm39)	M313I	possibly damaging	Het
Taf15	A	T	11: 83,375,520 (GRCm39)	T31S	probably benign	Het
Tktl2	T	C	8: 66,964,664 (GRCm39)	V74A	probably damaging	Het
Tle4	A	G	19: 14,432,229 (GRCm39)	V489A	probably damaging	Het
Tmem30a	T	C	9: 79,684,567 (GRCm39)	H95R	probably damaging	Het
Trmt9b	G	A	8: 36,972,760 (GRCm39)	C70Y	probably damaging	Het
Vmn1r75	C	A	7: 11,614,909 (GRCm39)	Q214K	probably damaging	Het
Vps13c	C	T	9: 67,817,475 (GRCm39)	T1049M	probably benign	Het
Zfp37	T	C	4: 62,110,365 (GRCm39)	Q274R	probably benign	Het
Zfp648	T	G	1: 154,080,873 (GRCm39)	L344R	probably damaging	Het

Other mutations in Focad

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Focad	APN	4	88,275,711 (GRCm39)	missense	unknown
IGL00562:Focad	APN	4	88,267,046 (GRCm39)	missense	unknown
IGL00563:Focad	APN	4	88,267,046 (GRCm39)	missense	unknown
IGL00900:Focad	APN	4	88,047,260 (GRCm39)	missense	probably damaging	0.99
IGL00984:Focad	APN	4	88,263,022 (GRCm39)	missense	unknown
IGL01016:Focad	APN	4	88,310,252 (GRCm39)	missense	possibly damaging	0.51
IGL01069:Focad	APN	4	88,244,383 (GRCm39)	missense	unknown
IGL01305:Focad	APN	4	88,311,784 (GRCm39)	missense	probably benign	0.32
IGL01409:Focad	APN	4	88,260,542 (GRCm39)	missense	unknown
IGL01447:Focad	APN	4	88,244,465 (GRCm39)	missense	unknown
IGL01521:Focad	APN	4	88,328,927 (GRCm39)	makesense	probably null
IGL01672:Focad	APN	4	88,278,827 (GRCm39)	critical splice donor site	probably null
IGL01739:Focad	APN	4	88,289,043 (GRCm39)	missense	unknown
IGL02082:Focad	APN	4	88,148,815 (GRCm39)	nonsense	probably null
IGL02139:Focad	APN	4	88,047,291 (GRCm39)	critical splice donor site	probably null
IGL02381:Focad	APN	4	88,192,327 (GRCm39)	splice site	probably benign
IGL02898:Focad	APN	4	88,310,234 (GRCm39)	missense	probably benign	0.02
certitude	UTSW	4	88,096,370 (GRCm39)	missense	probably damaging	1.00
impression	UTSW	4	88,196,479 (GRCm39)	missense	unknown
Microscope	UTSW	4	88,260,441 (GRCm39)	missense	unknown
Nuance	UTSW	4	88,115,083 (GRCm39)	intron	probably benign
Objective	UTSW	4	88,319,305 (GRCm39)	nonsense	probably null
ANU22:Focad	UTSW	4	88,311,784 (GRCm39)	missense	probably benign	0.32
R0025:Focad	UTSW	4	88,327,196 (GRCm39)	missense	probably benign	0.02
R0554:Focad	UTSW	4	88,267,126 (GRCm39)	missense	unknown
R0617:Focad	UTSW	4	88,039,525 (GRCm39)	unclassified	probably benign
R0688:Focad	UTSW	4	88,192,450 (GRCm39)	missense	unknown
R0746:Focad	UTSW	4	88,315,451 (GRCm39)	missense	possibly damaging	0.84
R0907:Focad	UTSW	4	88,196,498 (GRCm39)	critical splice donor site	probably null
R1109:Focad	UTSW	4	88,114,984 (GRCm39)	intron	probably benign
R1136:Focad	UTSW	4	88,244,417 (GRCm39)	missense	unknown
R1185:Focad	UTSW	4	88,096,424 (GRCm39)	missense	probably benign	0.40
R1185:Focad	UTSW	4	88,096,424 (GRCm39)	missense	probably benign	0.40
R1185:Focad	UTSW	4	88,096,424 (GRCm39)	missense	probably benign	0.40
R1412:Focad	UTSW	4	88,196,498 (GRCm39)	critical splice donor site	probably null
R1453:Focad	UTSW	4	88,275,679 (GRCm39)	critical splice acceptor site	probably null
R1697:Focad	UTSW	4	88,327,225 (GRCm39)	missense	probably damaging	0.98
R1739:Focad	UTSW	4	88,316,128 (GRCm39)	missense	probably benign	0.05
R1767:Focad	UTSW	4	88,275,705 (GRCm39)	missense	unknown
R1827:Focad	UTSW	4	88,147,620 (GRCm39)	missense	probably benign	0.03
R1866:Focad	UTSW	4	88,325,402 (GRCm39)	missense	possibly damaging	0.92
R1867:Focad	UTSW	4	88,096,326 (GRCm39)	missense	probably damaging	0.99
R1929:Focad	UTSW	4	88,260,449 (GRCm39)	missense	unknown
R1929:Focad	UTSW	4	88,315,416 (GRCm39)	missense	probably benign	0.32
R1937:Focad	UTSW	4	88,319,318 (GRCm39)	start codon destroyed	probably null
R1989:Focad	UTSW	4	88,151,021 (GRCm39)	critical splice donor site	probably null
R2176:Focad	UTSW	4	88,197,481 (GRCm39)	missense	unknown
R2393:Focad	UTSW	4	88,039,567 (GRCm39)	missense	probably damaging	0.96
R2431:Focad	UTSW	4	88,249,264 (GRCm39)	missense	unknown
R3195:Focad	UTSW	4	88,325,588 (GRCm39)	missense	possibly damaging	0.85
R3196:Focad	UTSW	4	88,325,588 (GRCm39)	missense	possibly damaging	0.85
R3730:Focad	UTSW	4	88,327,162 (GRCm39)	missense	possibly damaging	0.52
R3772:Focad	UTSW	4	88,254,398 (GRCm39)	splice site	probably benign
R4391:Focad	UTSW	4	88,104,195 (GRCm39)	missense	probably damaging	1.00
R4492:Focad	UTSW	4	88,278,142 (GRCm39)	critical splice donor site	probably null
R4703:Focad	UTSW	4	88,260,558 (GRCm39)	critical splice donor site	probably null
R4788:Focad	UTSW	4	88,275,706 (GRCm39)	missense	unknown
R4923:Focad	UTSW	4	88,115,083 (GRCm39)	intron	probably benign
R5026:Focad	UTSW	4	88,262,819 (GRCm39)	missense	unknown
R5122:Focad	UTSW	4	88,325,602 (GRCm39)	critical splice donor site	probably null
R5153:Focad	UTSW	4	88,278,121 (GRCm39)	missense	unknown
R5369:Focad	UTSW	4	88,039,610 (GRCm39)	splice site	probably benign
R5414:Focad	UTSW	4	88,328,939 (GRCm39)	utr 3 prime	probably benign
R5839:Focad	UTSW	4	88,115,083 (GRCm39)	intron	probably benign
R5916:Focad	UTSW	4	88,275,778 (GRCm39)	missense	unknown
R5953:Focad	UTSW	4	88,147,572 (GRCm39)	missense	probably benign	0.01
R5991:Focad	UTSW	4	88,319,256 (GRCm39)	missense	possibly damaging	0.91
R6230:Focad	UTSW	4	88,260,441 (GRCm39)	missense	unknown
R6247:Focad	UTSW	4	88,325,377 (GRCm39)	missense	possibly damaging	0.92
R6324:Focad	UTSW	4	88,319,305 (GRCm39)	nonsense	probably null
R6543:Focad	UTSW	4	88,197,493 (GRCm39)	missense	unknown
R6639:Focad	UTSW	4	88,196,479 (GRCm39)	missense	unknown
R6802:Focad	UTSW	4	88,262,921 (GRCm39)	missense	unknown
R6802:Focad	UTSW	4	88,192,440 (GRCm39)	missense	unknown
R6866:Focad	UTSW	4	88,321,623 (GRCm39)	missense	probably benign	0.34
R6902:Focad	UTSW	4	88,148,713 (GRCm39)	missense	unknown
R6928:Focad	UTSW	4	88,267,112 (GRCm39)	missense	unknown
R7036:Focad	UTSW	4	88,042,874 (GRCm39)	missense	probably benign	0.05
R7057:Focad	UTSW	4	88,192,342 (GRCm39)	missense	unknown
R7077:Focad	UTSW	4	88,328,914 (GRCm39)	missense	unknown
R7242:Focad	UTSW	4	88,228,143 (GRCm39)	missense	unknown
R7357:Focad	UTSW	4	88,147,572 (GRCm39)	missense	probably benign	0.19
R7380:Focad	UTSW	4	88,192,435 (GRCm39)	missense	unknown
R7427:Focad	UTSW	4	88,286,988 (GRCm39)	missense	unknown
R7582:Focad	UTSW	4	88,147,615 (GRCm39)	missense	probably benign	0.00
R7661:Focad	UTSW	4	88,221,772 (GRCm39)	missense	unknown
R7688:Focad	UTSW	4	88,096,370 (GRCm39)	missense	probably damaging	1.00
R7789:Focad	UTSW	4	88,147,643 (GRCm39)	missense	unknown
R7880:Focad	UTSW	4	88,319,407 (GRCm39)	missense	unknown
R7887:Focad	UTSW	4	88,100,853 (GRCm39)	missense	probably damaging	1.00
R8024:Focad	UTSW	4	88,315,237 (GRCm39)	missense	unknown
R8129:Focad	UTSW	4	88,151,000 (GRCm39)	missense	unknown
R8369:Focad	UTSW	4	88,150,905 (GRCm39)	missense	unknown
R8837:Focad	UTSW	4	88,072,905 (GRCm39)	missense	probably damaging	0.96
R9014:Focad	UTSW	4	88,275,763 (GRCm39)	missense	unknown
R9282:Focad	UTSW	4	88,115,059 (GRCm39)	missense	unknown
R9431:Focad	UTSW	4	88,321,583 (GRCm39)	missense	unknown
R9435:Focad	UTSW	4	88,267,076 (GRCm39)	missense	unknown
R9676:Focad	UTSW	4	88,273,682 (GRCm39)	missense	unknown
X0035:Focad	UTSW	4	88,316,159 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- CTGGGAAAATAGACAGCTTCTTTTC -3'
(R):5'- TCTCCAGAAAGAATTCTCAGCC -3'

Sequencing Primer
(F):5'- AGACAGCTTCTTTTCATTTCTAAGAC -3'
(R):5'- CAGCCAAGAGTACTTTTTCACAGAGG -3'

Posted On

2015-07-21