Mutagenetix > Incidental Mutation

Incidental Mutation 'R1827:Focad'

206888

Institutional Source

Beutler Lab

Gene Symbol

Focad

Ensembl Gene

ENSMUSG00000038368

Gene Name

focadhesin

Synonyms

BC057079

MMRRC Submission

039854-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.565) question?

Stock #

R1827 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88094629-88411011 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 88229383 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 420 (Y420D)

Ref Sequence

ENSEMBL: ENSMUSP00000124298 (fasta)

Gene Model

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

AlphaFold

A2AKG8

Predicted Effect

unknown
Transcript: ENSMUST00000097992
AA Change: Y506D

SMART Domains

Protein: ENSMUSP00000095602
Gene: ENSMUSG00000038368
AA Change: Y506D

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 benign
Transcript: ENSMUST00000159342
AA Change: Y420D

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000124298
Gene: ENSMUSG00000038368
AA Change: Y420D

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	G	C	7: 131,441,275	R355T	probably damaging	Het
Ackr2	C	T	9: 121,909,515	R319C	probably benign	Het
Acot4	G	A	12: 84,041,938	A187T	probably damaging	Het
Adgrb2	A	C	4: 130,012,557	Q926P	probably damaging	Het
Adgrb3	T	C	1: 25,532,577	T420A	probably damaging	Het
Adra1b	A	T	11: 43,835,649	V147E	probably damaging	Het
Bco1	A	G	8: 117,105,759	Y98C	probably damaging	Het
C87977	G	A	4: 144,209,610	P27S	probably damaging	Het
Car5a	C	T	8: 121,923,808	V166M	probably benign	Het
Cdh5	T	C	8: 104,112,909	L4P	possibly damaging	Het
Clec12a	A	G	6: 129,353,799	T115A	probably damaging	Het
Cmya5	G	A	13: 93,074,448	T3279I	possibly damaging	Het
Col4a4	C	T	1: 82,539,988	G105D	unknown	Het
Cyp2d34	A	T	15: 82,616,094	H481Q	probably benign	Het
Dhx15	A	T	5: 52,170,080	C307*	probably null	Het
Dnah9	A	G	11: 65,850,061	Y4100H	probably damaging	Het
Dock10	T	C	1: 80,530,292	N1647S	probably benign	Het
Duox1	T	A	2: 122,347,380	Y1548*	probably null	Het
Esyt1	T	C	10: 128,516,369	E763G	probably benign	Het
Fbxo18	G	T	2: 11,763,888	D332E	possibly damaging	Het
Fndc8	G	A	11: 82,899,529	V275M	probably damaging	Het
Gml	A	T	15: 74,816,431	H62Q	probably benign	Het
Gpr158	A	T	2: 21,827,318	L1076F	probably benign	Het
Gpr161	A	G	1: 165,306,567	T133A	possibly damaging	Het
Gpr83	G	T	9: 14,868,333	C269F	possibly damaging	Het
Gsg1l	A	T	7: 125,910,197	I256K	possibly damaging	Het
Hao1	T	A	2: 134,530,664	R141S	probably benign	Het
Hnf1a	G	A	5: 114,960,195	A116V	probably damaging	Het
Hrh4	A	T	18: 13,022,204	T267S	probably damaging	Het
Igfals	A	T	17: 24,880,304	N123I	probably benign	Het
Iglon5	T	A	7: 43,479,121	T91S	probably benign	Het
Impg2	A	T	16: 56,267,220	N1134I	possibly damaging	Het
Incenp	A	G	19: 9,872,729	V860A	possibly damaging	Het
Irf5	A	T	6: 29,536,673	H461L	possibly damaging	Het
Itpr2	A	G	6: 146,328,332	L1255P	probably damaging	Het
Kank2	A	G	9: 21,795,465	S86P	probably damaging	Het
Kcnma1	C	A	14: 23,330,929	D903Y	probably damaging	Het
Kcnn3	A	T	3: 89,520,994	M176L	possibly damaging	Het
Mccc1	A	T	3: 35,985,001	I281N	probably damaging	Het
Mms19	G	A	19: 41,953,677	A584V	probably benign	Het
Mon2	A	T	10: 123,046,311	D184E	probably damaging	Het
Mrpl1	T	C	5: 96,226,343	V159A	possibly damaging	Het
Myo18a	C	T	11: 77,818,771	T190I	probably benign	Het
Myo7a	A	T	7: 98,076,731	M1038K	probably damaging	Het
Myrfl	T	A	10: 116,832,947	I304F	probably damaging	Het
Neo1	G	A	9: 58,917,031	R705*	probably null	Het
Nfat5	T	C	8: 107,367,334	S736P	probably benign	Het
Nlrp4c	C	T	7: 6,065,766	P222L	probably damaging	Het
Nmt1	T	A	11: 103,064,838	W481R	probably damaging	Het
Ntrk3	T	A	7: 78,247,301	I663L	probably damaging	Het
Nup210l	A	T	3: 90,154,557	E681V	probably damaging	Het
Nxpe2	T	C	9: 48,326,614	T114A	probably damaging	Het
Olfr1202	A	T	2: 88,818,058	I296F	probably benign	Het
Olfr504	A	T	7: 108,565,075	V240D	probably benign	Het
Olfr543	A	G	7: 102,477,513	L119P	probably damaging	Het
Pald1	ATGCTGCTGCTGCTGC	ATGCTGCTGCTGC	10: 61,355,922		probably benign	Het
Ppm1e	T	C	11: 87,231,695	T479A	probably damaging	Het
Ppp1r7	A	G	1: 93,360,796	E298G	probably benign	Het
Prkaca	T	C	8: 83,990,987		probably null	Het
Prss36	A	G	7: 127,933,492	V718A	probably damaging	Het
Pxk	C	T	14: 8,151,507	R441*	probably null	Het
Rnf182	G	A	13: 43,668,534	W187*	probably null	Het
Rrp12	G	C	19: 41,880,481	D519E	possibly damaging	Het
Rufy4	T	C	1: 74,134,120	L415P	probably damaging	Het
Ryk	T	A	9: 102,888,507	D335E	probably benign	Het
S100a11	A	T	3: 93,526,121	I91F	probably benign	Het
Scin	T	C	12: 40,068,923	R625G	possibly damaging	Het
Simc1	T	A	13: 54,524,639	C267S	probably benign	Het
Skiv2l2	C	A	13: 112,913,099		probably null	Het
Slc28a1	T	C	7: 81,138,202	V279A	possibly damaging	Het
Slc30a8	T	A	15: 52,331,557		probably null	Het
Slco6d1	A	G	1: 98,421,216	D4G	probably damaging	Het
Tmem127	G	A	2: 127,256,174		probably null	Het
Trpm1	G	A	7: 64,235,007	R812H	probably damaging	Het
Tsga10	T	A	1: 37,835,580	I75F	probably damaging	Het
Tyms	C	T	5: 30,062,016		probably null	Het
Ubr4	A	G	4: 139,425,697		probably null	Het
Unc45a	A	G	7: 80,331,740	V438A	possibly damaging	Het
Usf2	T	C	7: 30,955,340	D110G	probably damaging	Het
Vit	T	C	17: 78,546,446		probably null	Het
Vmn2r104	A	T	17: 20,042,235	M211K	probably damaging	Het
Vmn2r11	T	C	5: 109,052,072	H505R	probably benign	Het
Vmn2r77	G	A	7: 86,801,613	A236T	probably damaging	Het
Xpo1	T	C	11: 23,285,155	M608T	probably benign	Het
Zfp112	T	C	7: 24,124,960	F116L	probably damaging	Het
Zfp84	A	G	7: 29,777,343	T487A	possibly damaging	Het
Zfpl1	A	C	19: 6,081,871	L241R	probably benign	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
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
R3730:Focad	UTSW	4	88408925	missense	possibly damaging	0.52
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
R9431:Focad	UTSW	4	88403346	missense	unknown
R9435:Focad	UTSW	4	88348839	missense	unknown
R9676:Focad	UTSW	4	88355445	missense	unknown
X0035:Focad	UTSW	4	88397922	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- ATGTAGCTTAAGTGCTAACTGTCTG -3'
(R):5'- GAAGCAAAGGGCCTAACCTCAG -3'

Sequencing Primer
(F):5'- AAGTGCTAACTGTCTGATTGAAC -3'
(R):5'- GCAATACCCACCATTTAGG -3'

Posted On

2014-06-23