Mutagenetix > Incidental Mutations

Incidental Mutation 'R6928:Focad'

539832

Institutional Source

Beutler Lab

Gene Symbol

Focad

Ensembl Gene

ENSMUSG00000038368

Gene Name

focadhesin

Synonyms

BC057079

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.595) question?

Stock #

R6928 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88094629-88411011 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88348875 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1041 (D1041G)

Ref Sequence

ENSEMBL: ENSMUSP00000124298 (fasta)

Gene Model

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

AlphaFold

A2AKG8

Predicted Effect

unknown
Transcript: ENSMUST00000097992
AA Change: D1127G

SMART Domains

Protein: ENSMUSP00000095602
Gene: ENSMUSG00000038368
AA Change: D1127G

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

unknown
Transcript: ENSMUST00000159342
AA Change: D1041G

SMART Domains

Protein: ENSMUSP00000124298
Gene: ENSMUSG00000038368
AA Change: D1041G

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: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.5%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	A	G	6: 55,479,272	D215G	possibly damaging	Het
Asb3	A	T	11: 30,998,326	M40L	probably damaging	Het
Aspg	G	A	12: 112,126,689	V547M	possibly damaging	Het
Aspm	T	A	1: 139,480,206	L2277*	probably null	Het
Atp7b	A	G	8: 21,994,812	S1295P	probably benign	Het
Cdca2	A	G	14: 67,705,744	S199P	probably damaging	Het
Cdh1	A	G	8: 106,661,010	E514G	possibly damaging	Het
Cenpk	G	T	13: 104,228,992		probably benign	Het
Col6a5	C	A	9: 105,939,919	V398L	unknown	Het
Colec10	A	T	15: 54,462,606	K277N	probably damaging	Het
Cryzl2	T	G	1: 157,470,787	S249A	probably benign	Het
Cspg4	T	A	9: 56,897,880	Y1992N	possibly damaging	Het
Drd3	G	T	16: 43,821,320	R333L	probably benign	Het
Espl1	C	T	15: 102,298,907	R269C	probably benign	Het
Esr2	C	T	12: 76,165,478	C188Y	probably damaging	Het
Frem3	T	C	8: 80,611,282	F68S	possibly damaging	Het
Gapdh	A	G	6: 125,162,671	V212A	probably damaging	Het
Gm10471	A	G	5: 26,085,588		probably null	Het
Gm3854	T	C	7: 6,354,267	Y360H	probably damaging	Het
Gm4778	T	A	3: 94,266,548	C288S	probably benign	Het
Gm4858	G	A	3: 93,073,960	C95Y	probably damaging	Het
Gzmb	T	C	14: 56,260,277	K169E	probably benign	Het
Hexdc	T	A	11: 121,212,054	F33I	possibly damaging	Het
Hsd3b6	T	C	3: 98,810,953	I32V	probably benign	Het
Jcad	T	C	18: 4,673,372	V378A	probably benign	Het
Kcnmb2	T	C	3: 32,199,041	S177P	probably benign	Het
Lrriq1	A	T	10: 103,214,939	S651T	possibly damaging	Het
Map3k2	T	C	18: 32,207,540		probably null	Het
Mib1	T	G	18: 10,802,282	S870A	probably benign	Het
Moap1	T	A	12: 102,742,612	N226I	probably damaging	Het
Moxd1	T	A	10: 24,300,288	N547K	probably damaging	Het
Mtmr9	A	G	14: 63,543,593	V16A	probably benign	Het
Nme1	T	C	11: 93,959,403	Y151C	probably damaging	Het
Nwd1	T	C	8: 72,682,025	F879L	probably benign	Het
Nynrin	T	G	14: 55,863,878	S335A	probably benign	Het
Olfr1451	A	G	19: 12,999,838	N284S	probably damaging	Het
Olfr1454	A	T	19: 13,063,984	H191L	probably benign	Het
Olfr209	C	A	16: 59,361,463	G252C	probably damaging	Het
Olfr655	A	T	7: 104,596,589	Y197*	probably null	Het
Olfr930	T	C	9: 38,930,566	Y132H	probably damaging	Het
Olfr935	T	C	9: 38,994,632	M268V	probably benign	Het
Pcdhb21	A	G	18: 37,514,421	E201G	probably damaging	Het
Plscr1	T	C	9: 92,269,951	V301A	possibly damaging	Het
Psg28	A	T	7: 18,423,078	S411T	possibly damaging	Het
Rif1	T	C	2: 52,095,961	W653R	probably damaging	Het
Rnd3	T	A	2: 51,132,506	I175L	probably benign	Het
Rtn4	A	G	11: 29,706,791	E199G	possibly damaging	Het
Sgpp1	T	C	12: 75,716,570	Y279C	probably damaging	Het
Slc2a13	A	G	15: 91,276,179	I524T	probably damaging	Het
Spg11	C	T	2: 122,069,904	V1556I	probably benign	Het
Srebf2	C	T	15: 82,203,723	R215*	probably null	Het
Tmem19	T	C	10: 115,347,274	N147S	possibly damaging	Het
Tpr	T	C	1: 150,408,785	S408P	possibly damaging	Het
Trav13d-4	C	T	14: 53,073,161	T53I	probably damaging	Het
Trf	T	A	9: 103,222,108	R168W	possibly damaging	Het
Trim11	A	G	11: 58,988,843	K273R	probably damaging	Het
Tsacc	T	A	3: 88,282,940	M68L	probably benign	Het
Ttn	T	A	2: 76,754,525	M22110L	probably benign	Het
Zfp160	G	T	17: 21,041,462	G104V	probably benign	Het
Zranb1	G	A	7: 132,966,594	R301H	possibly 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
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
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
X0035:Focad	UTSW	4	88397922	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- ATCTCTCTGGACCAGAAGGC -3'
(R):5'- ACCGATAGCAGGGTTTAGGAAC -3'

Sequencing Primer
(F):5'- CTTTATGCATACTGGACAAGCACTC -3'
(R):5'- CAAAACAGTTTTGGTGCAAGATTC -3'

Posted On

2018-11-06