Mutagenetix > Incidental Mutations

Incidental Mutation 'R0025:Focad'

40757

Institutional Source

Beutler Lab

Gene Symbol

Focad

Ensembl Gene

ENSMUSG00000038368

Gene Name

focadhesin

Synonyms

BC057079

MMRRC Submission

038320-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.556) question?

Stock #

R0025 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88094629-88411011 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 88408959 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 168 (N168K)

Ref Sequence

ENSEMBL: ENSMUSP00000102765 (fasta)

Gene Model

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

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

probably benign
Transcript: ENSMUST00000097992
AA Change: N1762K

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000095602
Gene: ENSMUSG00000038368
AA Change: N1762K

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: ENSMUST00000107147
AA Change: N168K

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102765
Gene: ENSMUSG00000038368
AA Change: N168K

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: N1676K

SMART Domains

Protein: ENSMUSP00000124298
Gene: ENSMUSG00000038368
AA Change: N1676K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.3%

Validation Efficiency

98% (115/117)

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	11: 76,000,115		probably benign	Het
Acsm1	A	T	7: 119,658,315	T435S	probably damaging	Het
Agtpbp1	G	A	13: 59,500,200	T602I	probably benign	Het
Ahnak2	T	A	12: 112,785,534	D231V	probably damaging	Het
Ampd3	G	A	7: 110,793,669	D215N	probably benign	Het
Ankrd17	T	C	5: 90,250,405	D1762G	probably damaging	Het
Asb8	C	T	15: 98,142,671	V37I	possibly damaging	Het
Bicra	T	C	7: 15,987,511	T694A	possibly damaging	Het
Btnl6	A	T	17: 34,514,299	M234K	probably benign	Het
Ccnb1	A	T	13: 100,779,781	V336D	probably damaging	Het
Cdca8	A	T	4: 124,921,254	L190Q	possibly damaging	Het
Cep290	A	T	10: 100,537,831	L1324F	probably damaging	Het
Ces1f	T	C	8: 93,271,885	E161G	probably benign	Het
Ces2g	A	G	8: 104,965,996		probably benign	Het
Cfap74	C	T	4: 155,426,115	R386C	probably benign	Het
Clec3b	A	G	9: 123,157,025	T163A	probably benign	Het
Cntnap4	T	G	8: 112,803,164	L668R	probably damaging	Het
Col27a1	A	G	4: 63,275,977	D857G	probably damaging	Het
Csf1	A	G	3: 107,748,644	V245A	probably benign	Het
Ctss	A	G	3: 95,550,137	Y302C	probably damaging	Het
Cyb5d1	A	G	11: 69,394,966		probably null	Het
Cyp1a2	A	G	9: 57,682,061	S157P	probably damaging	Het
Cyp2b9	A	T	7: 26,200,813	T349S	probably benign	Het
Dennd6b	T	C	15: 89,186,183	I428V	probably benign	Het
Denr	A	G	5: 123,927,235		probably benign	Het
Dnah9	G	A	11: 65,969,955		probably benign	Het
Dock3	G	T	9: 106,913,268	Q1419K	possibly damaging	Het
Dph3b-ps	A	T	13: 106,546,867		noncoding transcript	Het
Emc7	G	T	2: 112,459,485	D87Y	probably damaging	Het
Enah	T	C	1: 181,913,373	E462G	possibly damaging	Het
Eno1b	T	C	18: 48,047,739	I328T	probably benign	Het
Enpp6	A	G	8: 47,066,000	K268E	probably damaging	Het
Eps15l1	T	G	8: 72,381,497		probably benign	Het
Fam151a	T	C	4: 106,748,174	Y578H	probably benign	Het
Fmn2	T	C	1: 174,791,314	V1512A	probably damaging	Het
Fyco1	A	G	9: 123,829,009	C701R	probably damaging	Het
Gabbr1	G	T	17: 37,067,210		probably benign	Het
Golga7b	A	T	19: 42,266,839	E76V	probably damaging	Het
Gucy2d	A	G	7: 98,467,752	D924G	probably benign	Het
H2-M9	A	G	17: 36,641,755	F133S	probably damaging	Het
Hc	A	G	2: 34,986,292	Y1581H	probably damaging	Het
Herc3	C	T	6: 58,874,308	P514L	probably damaging	Het
Hormad1	T	C	3: 95,585,125		probably benign	Het
Iigp1	T	A	18: 60,390,787	S326T	possibly damaging	Het
Itga2	G	A	13: 114,870,496	S432L	possibly damaging	Het
Kcnk7	T	G	19: 5,707,014	*344G	probably null	Het
Kif13a	A	G	13: 46,786,511		probably null	Het
Kif1a	A	C	1: 93,042,358	I1027S	probably damaging	Het
Kif2c	G	T	4: 117,165,517	H416Q	probably damaging	Het
Map3k1	A	G	13: 111,756,129	V864A	probably benign	Het
Mark2	T	C	19: 7,285,922	D160G	probably damaging	Het
Mbd4	A	G	6: 115,844,568		probably null	Het
Micu1	A	G	10: 59,788,877		probably null	Het
Mink1	T	C	11: 70,613,042	W1263R	probably damaging	Het
Mov10	A	C	3: 104,804,603	L224R	probably damaging	Het
Ndel1	T	C	11: 68,836,173	E226G	probably damaging	Het
Neb	A	T	2: 52,222,774	V4336E	probably damaging	Het
Nln	T	A	13: 104,036,891	K602N	probably damaging	Het
Nlrp14	A	T	7: 107,181,258		probably benign	Het
Nmd3	A	T	3: 69,748,321	D445V	probably damaging	Het
Nop14	T	C	5: 34,643,953	I625V	probably benign	Het
Notch1	T	C	2: 26,470,931	Q1134R	probably damaging	Het
Nr4a2	T	C	2: 57,108,615	I392M	probably benign	Het
Olfr1310	T	A	2: 112,009,020	L55F	probably damaging	Het
Olfr702	A	G	7: 106,823,756	F257L	possibly damaging	Het
Olfr983	A	G	9: 40,092,253	S234P	probably damaging	Het
Osbp	T	C	19: 11,983,958	Y454H	probably damaging	Het
Pak4	G	A	7: 28,564,283	R343C	probably damaging	Het
Pak7	T	C	2: 136,100,784	K479E	possibly damaging	Het
Pard3	C	A	8: 127,161,308	D73E	probably damaging	Het
Pcdh10	T	C	3: 45,380,499	V416A	possibly damaging	Het
Plek	A	C	11: 16,985,594	W261G	probably damaging	Het
Pmp22	A	T	11: 63,158,250		probably null	Het
Prph2	A	C	17: 46,919,771	K197Q	probably benign	Het
Prss45	T	A	9: 110,840,894	L257Q	probably damaging	Het
Psmb6	C	A	11: 70,526,345	H73Q	probably benign	Het
Rin2	T	C	2: 145,878,832		probably benign	Het
Rps6kb1	A	T	11: 86,511,587		probably null	Het
Scn10a	C	A	9: 119,670,484	D248Y	probably damaging	Het
Scn4a	C	T	11: 106,324,560	V1197I	probably benign	Het
Siglecf	A	T	7: 43,351,925	I106F	probably benign	Het
Sik1	A	G	17: 31,847,275		probably benign	Het
Slc22a21	T	G	11: 53,979,688	N57T	probably damaging	Het
Slc36a2	A	G	11: 55,162,795	L339P	probably damaging	Het
Slc4a9	G	T	18: 36,531,666		probably benign	Het
Smg1	G	A	7: 118,212,443	T104I	possibly damaging	Het
Stc2	A	T	11: 31,365,559		probably null	Het
Stx18	T	A	5: 38,092,564	Y74N	probably damaging	Het
Stxbp5	A	T	10: 9,762,748	H1102Q	probably damaging	Het
Tnfaip8l2	G	A	3: 95,140,028	L175F	probably damaging	Het
Tom1l2	T	C	11: 60,230,134	K450E	probably damaging	Het
Tpo	T	C	12: 30,100,390	Q497R	probably benign	Het
Tprgl	G	T	4: 154,160,345		probably benign	Het
Triml2	A	G	8: 43,185,432	M146V	probably benign	Het
Tsc2	A	G	17: 24,631,004		probably benign	Het
Vit	G	A	17: 78,599,835	G229R	probably benign	Het
Vmn2r19	C	T	6: 123,331,547	L528F	probably benign	Het
Vwf	T	A	6: 125,682,812	I2658N	probably benign	Het
Wdfy3	T	C	5: 101,845,046	D3341G	probably damaging	Het
Wdr36	T	A	18: 32,859,307	D632E	probably damaging	Het
Wdr47	G	T	3: 108,637,991	A733S	probably damaging	Het
Zcchc6	A	T	13: 59,805,328	D99E	probably benign	Het
Zfp458	T	A	13: 67,257,898	H156L	probably damaging	Het
Zfp654	A	G	16: 64,784,818	V466A	probably benign	Het
Zfp804b	T	C	5: 6,771,665	E466G	probably damaging	Het
Zfp941	T	C	7: 140,813,272	D58G	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
Microscope	UTSW	4	88342204	missense	unknown
Objective	UTSW	4	88401068	nonsense	probably null
ANU22:Focad	UTSW	4	88393547	missense	probably benign	0.32
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
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
X0035:Focad	UTSW	4	88397922	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- CTCCAGCCTCTACAGGAAATGCTTC -3'
(R):5'- ACTGAGCAGCAGCGACTGTTAC -3'

Sequencing Primer
(F):5'- GGAAATGCTTCAAGACCTTTGC -3'
(R):5'- GTTCTCATGCACAGGATAAGAC -3'

Posted On

2013-05-23