Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00900:Focad'

27205

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Focad

Ensembl Gene

ENSMUSG00000038368

Gene Name

focadhesin

Synonyms

BC057079

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.565) question?

Stock #

IGL00900

Quality Score

Status

Chromosome

Chromosomal Location

88094629-88411011 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88129023 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 86 (N86K)

Ref Sequence

ENSEMBL: ENSMUSP00000124298 (fasta)

Gene Model

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

AlphaFold

A2AKG8

Predicted Effect

unknown
Transcript: ENSMUST00000097992
AA Change: N86K

SMART Domains

Protein: ENSMUSP00000095602
Gene: ENSMUSG00000038368
AA Change: N86K

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: ENSMUST00000147527

Predicted Effect

probably damaging
Transcript: ENSMUST00000159342
AA Change: N86K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124298
Gene: ENSMUSG00000038368
AA Change: N86K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161058

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	T	C	11: 84,470,557 (GRCm38)		probably benign	Het
Agap3	G	A	5: 24,476,368 (GRCm38)		probably benign	Het
Angptl2	A	T	2: 33,243,772 (GRCm38)	M369L	probably benign	Het
Arhgef11	A	G	3: 87,683,560 (GRCm38)	D36G	possibly damaging	Het
Ccnt1	A	G	15: 98,554,633 (GRCm38)	V134A	probably damaging	Het
Ces1e	T	C	8: 93,217,617 (GRCm38)	H191R	probably damaging	Het
Dhh	A	G	15: 98,898,220 (GRCm38)		probably benign	Het
Edil3	C	A	13: 89,289,533 (GRCm38)	H418N	probably benign	Het
Fam161b	T	C	12: 84,355,969 (GRCm38)	I296V	probably benign	Het
Foxn1	C	T	11: 78,371,283 (GRCm38)	G87S	probably benign	Het
Glipr1l2	T	C	10: 112,097,982 (GRCm38)	Y220H	probably benign	Het
Hnrnpa1	A	G	15: 103,243,739 (GRCm38)		probably benign	Het
Hnrnpm	C	A	17: 33,649,902 (GRCm38)	R517L	probably damaging	Het
Ipo11	T	C	13: 106,847,444 (GRCm38)	M797V	possibly damaging	Het
Itprid2	G	A	2: 79,660,478 (GRCm38)	R980Q	probably damaging	Het
Klhdc2	T	A	12: 69,303,534 (GRCm38)	F118I	probably benign	Het
Mtap	T	A	4: 89,172,357 (GRCm38)	Y221*	probably null	Het
Myh2	T	C	11: 67,179,384 (GRCm38)	V414A	probably damaging	Het
Ncor2	A	T	5: 125,025,784 (GRCm38)	Y1999N	probably damaging	Het
Or5d39	A	G	2: 88,149,260 (GRCm38)	F253S	possibly damaging	Het
Oxsm	A	G	14: 16,242,023 (GRCm38)	S249P	probably damaging	Het
Pabpc4l	T	A	3: 46,447,072 (GRCm38)	I46F	possibly damaging	Het
Pcnx2	A	G	8: 125,863,236 (GRCm38)		probably benign	Het
Rasal2	A	G	1: 157,411,929 (GRCm38)	S4P	possibly damaging	Het
Reln	A	G	5: 21,980,117 (GRCm38)	V1534A	probably damaging	Het
Rnf138	T	A	18: 21,020,960 (GRCm38)	D174E	possibly damaging	Het
Sh3pxd2a	T	A	19: 47,314,155 (GRCm38)	N162Y	probably benign	Het
Slc6a4	A	T	11: 77,023,180 (GRCm38)	T519S	probably benign	Het
Slfn9	A	T	11: 82,981,371 (GRCm38)	C846*	probably null	Het
Trip12	A	G	1: 84,724,764 (GRCm38)	S1945P	possibly damaging	Het
Vmn1r232	A	G	17: 20,914,132 (GRCm38)	F69L	probably benign	Het
Zeb2	T	C	2: 44,997,275 (GRCm38)	D545G	probably damaging	Het

Other mutations in Focad

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Focad	APN	4	88,357,474 (GRCm38)	missense	unknown
IGL00562:Focad	APN	4	88,348,809 (GRCm38)	missense	unknown
IGL00563:Focad	APN	4	88,348,809 (GRCm38)	missense	unknown
IGL00984:Focad	APN	4	88,344,785 (GRCm38)	missense	unknown
IGL01016:Focad	APN	4	88,392,015 (GRCm38)	missense	possibly damaging	0.51
IGL01069:Focad	APN	4	88,326,146 (GRCm38)	missense	unknown
IGL01305:Focad	APN	4	88,393,547 (GRCm38)	missense	probably benign	0.32
IGL01409:Focad	APN	4	88,342,305 (GRCm38)	missense	unknown
IGL01447:Focad	APN	4	88,326,228 (GRCm38)	missense	unknown
IGL01521:Focad	APN	4	88,410,690 (GRCm38)	makesense	probably null
IGL01672:Focad	APN	4	88,360,590 (GRCm38)	critical splice donor site	probably null
IGL01739:Focad	APN	4	88,370,806 (GRCm38)	missense	unknown
IGL02082:Focad	APN	4	88,230,578 (GRCm38)	nonsense	probably null
IGL02139:Focad	APN	4	88,129,054 (GRCm38)	critical splice donor site	probably null
IGL02381:Focad	APN	4	88,274,090 (GRCm38)	splice site	probably benign
IGL02898:Focad	APN	4	88,391,997 (GRCm38)	missense	probably benign	0.02
certitude	UTSW	4	88,178,133 (GRCm38)	missense	probably damaging	1.00
impression	UTSW	4	88,278,242 (GRCm38)	missense	unknown
Microscope	UTSW	4	88,342,204 (GRCm38)	missense	unknown
Nuance	UTSW	4	88,196,846 (GRCm38)	intron	probably benign
Objective	UTSW	4	88,401,068 (GRCm38)	nonsense	probably null
ANU22:Focad	UTSW	4	88,393,547 (GRCm38)	missense	probably benign	0.32
R0025:Focad	UTSW	4	88,408,959 (GRCm38)	missense	probably benign	0.02
R0554:Focad	UTSW	4	88,348,889 (GRCm38)	missense	unknown
R0617:Focad	UTSW	4	88,121,288 (GRCm38)	unclassified	probably benign
R0688:Focad	UTSW	4	88,274,213 (GRCm38)	missense	unknown
R0746:Focad	UTSW	4	88,397,214 (GRCm38)	missense	possibly damaging	0.84
R0907:Focad	UTSW	4	88,278,261 (GRCm38)	critical splice donor site	probably null
R1109:Focad	UTSW	4	88,196,747 (GRCm38)	intron	probably benign
R1136:Focad	UTSW	4	88,326,180 (GRCm38)	missense	unknown
R1185:Focad	UTSW	4	88,178,187 (GRCm38)	missense	probably benign	0.40
R1185:Focad	UTSW	4	88,178,187 (GRCm38)	missense	probably benign	0.40
R1185:Focad	UTSW	4	88,178,187 (GRCm38)	missense	probably benign	0.40
R1412:Focad	UTSW	4	88,278,261 (GRCm38)	critical splice donor site	probably null
R1453:Focad	UTSW	4	88,357,442 (GRCm38)	critical splice acceptor site	probably null
R1697:Focad	UTSW	4	88,408,988 (GRCm38)	missense	probably damaging	0.98
R1739:Focad	UTSW	4	88,397,891 (GRCm38)	missense	probably benign	0.05
R1767:Focad	UTSW	4	88,357,468 (GRCm38)	missense	unknown
R1827:Focad	UTSW	4	88,229,383 (GRCm38)	missense	probably benign	0.03
R1866:Focad	UTSW	4	88,407,165 (GRCm38)	missense	possibly damaging	0.92
R1867:Focad	UTSW	4	88,178,089 (GRCm38)	missense	probably damaging	0.99
R1929:Focad	UTSW	4	88,342,212 (GRCm38)	missense	unknown
R1929:Focad	UTSW	4	88,397,179 (GRCm38)	missense	probably benign	0.32
R1937:Focad	UTSW	4	88,401,081 (GRCm38)	start codon destroyed	probably null
R1989:Focad	UTSW	4	88,232,784 (GRCm38)	critical splice donor site	probably null
R2176:Focad	UTSW	4	88,279,244 (GRCm38)	missense	unknown
R2393:Focad	UTSW	4	88,121,330 (GRCm38)	missense	probably damaging	0.96
R2431:Focad	UTSW	4	88,331,027 (GRCm38)	missense	unknown
R3195:Focad	UTSW	4	88,407,351 (GRCm38)	missense	possibly damaging	0.85
R3196:Focad	UTSW	4	88,407,351 (GRCm38)	missense	possibly damaging	0.85
R3730:Focad	UTSW	4	88,408,925 (GRCm38)	missense	possibly damaging	0.52
R3772:Focad	UTSW	4	88,336,161 (GRCm38)	splice site	probably benign
R4391:Focad	UTSW	4	88,185,958 (GRCm38)	missense	probably damaging	1.00
R4491:Focad	UTSW	4	88,359,905 (GRCm38)	critical splice donor site	probably null
R4492:Focad	UTSW	4	88,359,905 (GRCm38)	critical splice donor site	probably null
R4703:Focad	UTSW	4	88,342,321 (GRCm38)	critical splice donor site	probably null
R4788:Focad	UTSW	4	88,357,469 (GRCm38)	missense	unknown
R4923:Focad	UTSW	4	88,196,846 (GRCm38)	intron	probably benign
R5026:Focad	UTSW	4	88,344,582 (GRCm38)	missense	unknown
R5122:Focad	UTSW	4	88,407,365 (GRCm38)	critical splice donor site	probably null
R5153:Focad	UTSW	4	88,359,884 (GRCm38)	missense	unknown
R5369:Focad	UTSW	4	88,121,373 (GRCm38)	splice site	probably benign
R5414:Focad	UTSW	4	88,410,702 (GRCm38)	utr 3 prime	probably benign
R5839:Focad	UTSW	4	88,196,846 (GRCm38)	intron	probably benign
R5916:Focad	UTSW	4	88,357,541 (GRCm38)	missense	unknown
R5953:Focad	UTSW	4	88,229,335 (GRCm38)	missense	probably benign	0.01
R5991:Focad	UTSW	4	88,401,019 (GRCm38)	missense	possibly damaging	0.91
R6230:Focad	UTSW	4	88,342,204 (GRCm38)	missense	unknown
R6247:Focad	UTSW	4	88,407,140 (GRCm38)	missense	possibly damaging	0.92
R6324:Focad	UTSW	4	88,401,068 (GRCm38)	nonsense	probably null
R6543:Focad	UTSW	4	88,279,256 (GRCm38)	missense	unknown
R6639:Focad	UTSW	4	88,278,242 (GRCm38)	missense	unknown
R6802:Focad	UTSW	4	88,344,684 (GRCm38)	missense	unknown
R6802:Focad	UTSW	4	88,274,203 (GRCm38)	missense	unknown
R6866:Focad	UTSW	4	88,403,386 (GRCm38)	missense	probably benign	0.34
R6902:Focad	UTSW	4	88,230,476 (GRCm38)	missense	unknown
R6928:Focad	UTSW	4	88,348,875 (GRCm38)	missense	unknown
R7036:Focad	UTSW	4	88,124,637 (GRCm38)	missense	probably benign	0.05
R7057:Focad	UTSW	4	88,274,105 (GRCm38)	missense	unknown
R7077:Focad	UTSW	4	88,410,677 (GRCm38)	missense	unknown
R7242:Focad	UTSW	4	88,309,906 (GRCm38)	missense	unknown
R7357:Focad	UTSW	4	88,229,335 (GRCm38)	missense	probably benign	0.19
R7380:Focad	UTSW	4	88,274,198 (GRCm38)	missense	unknown
R7427:Focad	UTSW	4	88,368,751 (GRCm38)	missense	unknown
R7582:Focad	UTSW	4	88,229,378 (GRCm38)	missense	probably benign	0.00
R7661:Focad	UTSW	4	88,303,535 (GRCm38)	missense	unknown
R7688:Focad	UTSW	4	88,178,133 (GRCm38)	missense	probably damaging	1.00
R7789:Focad	UTSW	4	88,229,406 (GRCm38)	missense	unknown
R7880:Focad	UTSW	4	88,401,170 (GRCm38)	missense	unknown
R7887:Focad	UTSW	4	88,182,616 (GRCm38)	missense	probably damaging	1.00
R8024:Focad	UTSW	4	88,397,000 (GRCm38)	missense	unknown
R8129:Focad	UTSW	4	88,232,763 (GRCm38)	missense	unknown
R8369:Focad	UTSW	4	88,232,668 (GRCm38)	missense	unknown
R8837:Focad	UTSW	4	88,154,668 (GRCm38)	missense	probably damaging	0.96
R9014:Focad	UTSW	4	88,357,526 (GRCm38)	missense	unknown
R9282:Focad	UTSW	4	88,196,822 (GRCm38)	missense	unknown
R9431:Focad	UTSW	4	88,403,346 (GRCm38)	missense	unknown
R9435:Focad	UTSW	4	88,348,839 (GRCm38)	missense	unknown
R9676:Focad	UTSW	4	88,355,445 (GRCm38)	missense	unknown
X0035:Focad	UTSW	4	88,397,922 (GRCm38)	missense	possibly damaging	0.86

Posted On

2013-04-17