Mutagenetix > Incidental Mutations

Incidental Mutation 'R3730:Focad'

270921

Institutional Source

Beutler Lab

Gene Symbol

Focad

Ensembl Gene

ENSMUSG00000038368

Gene Name

focadhesin

Synonyms

BC057079

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.687) question?

Stock #

R3730 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88094629-88411011 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88408925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 157 (I157T)

Ref Sequence

ENSEMBL: ENSMUSP00000102765 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030221] [ENSMUST00000097992] [ENSMUST00000107147] [ENSMUST00000132493] [ENSMUST00000159342]

AlphaFold

A2AKG8

Predicted Effect

probably benign
Transcript: ENSMUST00000030221

SMART Domains

Protein: ENSMUSP00000030221
Gene: ENSMUSG00000028497

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:PTPLA	65	226	3.4e-46	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097992
AA Change: I1751T

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095602
Gene: ENSMUSG00000038368
AA Change: I1751T

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

possibly damaging
Transcript: ENSMUST00000107147
AA Change: I157T

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102765
Gene: ENSMUSG00000038368
AA Change: I157T

Domain	Start	End	E-Value	Type
Pfam:DUF3028	1	204	8.6e-136	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000107148

Predicted Effect

probably benign
Transcript: ENSMUST00000132493

SMART Domains

Protein: ENSMUSP00000119411
Gene: ENSMUSG00000028497

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
Pfam:PTPLA	80	234	1.5e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151280

SMART Domains

Protein: ENSMUSP00000122565
Gene: ENSMUSG00000028497

Domain	Start	End	E-Value	Type
transmembrane domain	38	60	N/A	INTRINSIC
Pfam:PTPLA	85	244	3e-37	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000159342
AA Change: I1665T

SMART Domains

Protein: ENSMUSP00000124298
Gene: ENSMUSG00000038368
AA Change: I1665T

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: ENSMUST00000162039

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.2%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	G	1: 11,545,226	N141S	probably damaging	Het
Acbd6	T	A	1: 155,558,725	S30T	probably benign	Het
Acot12	T	A	13: 91,760,026	F109Y	possibly damaging	Het
Adamts19	G	A	18: 58,900,910	R319Q	probably damaging	Het
Akap1	T	C	11: 88,845,182	E218G	possibly damaging	Het
Atg4b	T	A	1: 93,768,275	D45E	probably damaging	Het
Atoh1	A	G	6: 64,729,573	E84G	probably benign	Het
Cfap54	A	T	10: 93,011,473	Y951*	probably null	Het
Col4a4	T	A	1: 82,455,751		probably null	Het
Crlf1	A	G	8: 70,499,442	T95A	probably benign	Het
Cyp3a25	G	A	5: 146,003,081	P39S	probably damaging	Het
Dhx9	C	A	1: 153,478,120	A186S	probably benign	Het
Dusp16	A	G	6: 134,718,861	S336P	probably benign	Het
Fcgbp	T	C	7: 28,085,457	V314A	possibly damaging	Het
Frem3	A	T	8: 80,615,916	T1613S	probably damaging	Het
Fshr	C	T	17: 89,001,715	V222I	probably benign	Het
Galnt13	A	G	2: 54,933,507	N365S	possibly damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Ice1	A	T	13: 70,603,240	S1576T	probably damaging	Het
Ighv1-19	C	A	12: 114,708,877	C40F	probably damaging	Het
Itga8	T	C	2: 12,193,510	T555A	possibly damaging	Het
Kctd5	T	C	17: 24,059,238	D146G	probably benign	Het
Ktn1	A	G	14: 47,701,149	E766G	probably damaging	Het
Ldlr	C	G	9: 21,731,801	A41G	probably benign	Het
Lrp2	G	A	2: 69,464,579	P3465L	probably damaging	Het
Lrp2	A	T	2: 69,534,907		probably null	Het
Mapk11	G	A	15: 89,145,115	A248V	probably benign	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Npr2	T	C	4: 43,640,999	S402P	possibly damaging	Het
Olfm2	T	C	9: 20,672,767	N76D	probably damaging	Het
Olfr1047	A	G	2: 86,228,851	I40T	probably benign	Het
Olfr853	T	A	9: 19,537,151	I260F	probably benign	Het
Pias4	A	T	10: 81,164,054	F55Y	probably damaging	Het
Rgs12	G	A	5: 35,032,251	E658K	probably damaging	Het
Ripor3	C	G	2: 167,992,819	E251Q	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc16a10	G	C	10: 40,056,624	H314D	possibly damaging	Het
Slc35e4	A	G	11: 3,912,577	V204A	possibly damaging	Het
Syt4	T	C	18: 31,444,136	H55R	probably damaging	Het
Tmem2	A	G	19: 21,826,117	Y838C	probably damaging	Het
Trim46	T	A	3: 89,234,949	T721S	probably benign	Het
Usf3	G	T	16: 44,218,575	L1139F	probably benign	Het
Wdr66	A	T	5: 123,326,568	I1280L	possibly damaging	Het
Xrn2	A	T	2: 147,024,809	M100L	probably benign	Het
Zbtb33	C	A	X: 38,192,945	N243K	probably benign	Het
Zfp960	T	A	17: 17,088,371	L449H	probably damaging	Het

Other mutations in Focad

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Focad	APN	4	88357474	missense	unknown
IGL00562:Focad	APN	4	88348809	missense	unknown
IGL00563:Focad	APN	4	88348809	missense	unknown
IGL00900:Focad	APN	4	88129023	missense	probably damaging	0.99
IGL00984:Focad	APN	4	88344785	missense	unknown
IGL01016:Focad	APN	4	88392015	missense	possibly damaging	0.51
IGL01069:Focad	APN	4	88326146	missense	unknown
IGL01305:Focad	APN	4	88393547	missense	probably benign	0.32
IGL01409:Focad	APN	4	88342305	missense	unknown
IGL01447:Focad	APN	4	88326228	missense	unknown
IGL01521:Focad	APN	4	88410690	makesense	probably null
IGL01672:Focad	APN	4	88360590	critical splice donor site	probably null
IGL01739:Focad	APN	4	88370806	missense	unknown
IGL02082:Focad	APN	4	88230578	nonsense	probably null
IGL02139:Focad	APN	4	88129054	critical splice donor site	probably null
IGL02381:Focad	APN	4	88274090	splice site	probably benign
IGL02898:Focad	APN	4	88391997	missense	probably benign	0.02
certitude	UTSW	4	88178133	missense	probably damaging	1.00
impression	UTSW	4	88278242	missense	unknown
Microscope	UTSW	4	88342204	missense	unknown
Nuance	UTSW	4	88196846	intron	probably benign
Objective	UTSW	4	88401068	nonsense	probably null
ANU22:Focad	UTSW	4	88393547	missense	probably benign	0.32
R0025:Focad	UTSW	4	88408959	missense	probably benign	0.02
R0554:Focad	UTSW	4	88348889	missense	unknown
R0617:Focad	UTSW	4	88121288	unclassified	probably benign
R0688:Focad	UTSW	4	88274213	missense	unknown
R0746:Focad	UTSW	4	88397214	missense	possibly damaging	0.84
R0907:Focad	UTSW	4	88278261	critical splice donor site	probably null
R1109:Focad	UTSW	4	88196747	intron	probably benign
R1136:Focad	UTSW	4	88326180	missense	unknown
R1185:Focad	UTSW	4	88178187	missense	probably benign	0.40
R1185:Focad	UTSW	4	88178187	missense	probably benign	0.40
R1185:Focad	UTSW	4	88178187	missense	probably benign	0.40
R1412:Focad	UTSW	4	88278261	critical splice donor site	probably null
R1453:Focad	UTSW	4	88357442	critical splice acceptor site	probably null
R1697:Focad	UTSW	4	88408988	missense	probably damaging	0.98
R1739:Focad	UTSW	4	88397891	missense	probably benign	0.05
R1767:Focad	UTSW	4	88357468	missense	unknown
R1827:Focad	UTSW	4	88229383	missense	probably benign	0.03
R1866:Focad	UTSW	4	88407165	missense	possibly damaging	0.92
R1867:Focad	UTSW	4	88178089	missense	probably damaging	0.99
R1929:Focad	UTSW	4	88342212	missense	unknown
R1929:Focad	UTSW	4	88397179	missense	probably benign	0.32
R1937:Focad	UTSW	4	88401081	start codon destroyed	probably null
R1989:Focad	UTSW	4	88232784	critical splice donor site	probably null
R2176:Focad	UTSW	4	88279244	missense	unknown
R2393:Focad	UTSW	4	88121330	missense	probably damaging	0.96
R2431:Focad	UTSW	4	88331027	missense	unknown
R3195:Focad	UTSW	4	88407351	missense	possibly damaging	0.85
R3196:Focad	UTSW	4	88407351	missense	possibly damaging	0.85
R3772:Focad	UTSW	4	88336161	splice site	probably benign
R4391:Focad	UTSW	4	88185958	missense	probably damaging	1.00
R4491:Focad	UTSW	4	88359905	critical splice donor site	probably null
R4492:Focad	UTSW	4	88359905	critical splice donor site	probably null
R4703:Focad	UTSW	4	88342321	critical splice donor site	probably null
R4788:Focad	UTSW	4	88357469	missense	unknown
R4923:Focad	UTSW	4	88196846	intron	probably benign
R5026:Focad	UTSW	4	88344582	missense	unknown
R5122:Focad	UTSW	4	88407365	critical splice donor site	probably null
R5153:Focad	UTSW	4	88359884	missense	unknown
R5369:Focad	UTSW	4	88121373	splice site	probably benign
R5414:Focad	UTSW	4	88410702	utr 3 prime	probably benign
R5839:Focad	UTSW	4	88196846	intron	probably benign
R5916:Focad	UTSW	4	88357541	missense	unknown
R5953:Focad	UTSW	4	88229335	missense	probably benign	0.01
R5991:Focad	UTSW	4	88401019	missense	possibly damaging	0.91
R6230:Focad	UTSW	4	88342204	missense	unknown
R6247:Focad	UTSW	4	88407140	missense	possibly damaging	0.92
R6324:Focad	UTSW	4	88401068	nonsense	probably null
R6543:Focad	UTSW	4	88279256	missense	unknown
R6639:Focad	UTSW	4	88278242	missense	unknown
R6802:Focad	UTSW	4	88274203	missense	unknown
R6802:Focad	UTSW	4	88344684	missense	unknown
R6866:Focad	UTSW	4	88403386	missense	probably benign	0.34
R6902:Focad	UTSW	4	88230476	missense	unknown
R6928:Focad	UTSW	4	88348875	missense	unknown
R7036:Focad	UTSW	4	88124637	missense	probably benign	0.05
R7057:Focad	UTSW	4	88274105	missense	unknown
R7077:Focad	UTSW	4	88410677	missense	unknown
R7242:Focad	UTSW	4	88309906	missense	unknown
R7357:Focad	UTSW	4	88229335	missense	probably benign	0.19
R7380:Focad	UTSW	4	88274198	missense	unknown
R7427:Focad	UTSW	4	88368751	missense	unknown
R7582:Focad	UTSW	4	88229378	missense	probably benign	0.00
R7661:Focad	UTSW	4	88303535	missense	unknown
R7688:Focad	UTSW	4	88178133	missense	probably damaging	1.00
R7789:Focad	UTSW	4	88229406	missense	unknown
R7880:Focad	UTSW	4	88401170	missense	unknown
R7887:Focad	UTSW	4	88182616	missense	probably damaging	1.00
R8024:Focad	UTSW	4	88397000	missense	unknown
R8129:Focad	UTSW	4	88232763	missense	unknown
R8369:Focad	UTSW	4	88232668	missense	unknown
R8837:Focad	UTSW	4	88154668	missense	probably damaging	0.96
R9014:Focad	UTSW	4	88357526	missense	unknown
R9282:Focad	UTSW	4	88196822	missense	unknown
X0035:Focad	UTSW	4	88397922	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- ATCAGAGGTGTATCTTTCATTCCTG -3'
(R):5'- ATTAATGGTGCTGGCCCTCC -3'

Sequencing Primer
(F):5'- GTCTCATCTCTGCACCGC -3'
(R):5'- TTCCCATCTTTCTGACTTAAAATACC -3'

Posted On

2015-03-18