Mutagenetix > Incidental Mutations

Incidental Mutation 'R5916:Focad'

461317

Institutional Source

Beutler Lab

Gene Symbol

Focad

Ensembl Gene

ENSMUSG00000038368

Gene Name

focadhesin

Synonyms

BC057079

MMRRC Submission

044113-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.595) question?

Stock #

R5916 (G1)

Quality Score

209

Status

Not validated

Chromosome

Chromosomal Location

88094629-88411011 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88357541 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1129 (L1129P)

Ref Sequence

ENSEMBL: ENSMUSP00000124298 (fasta)

Gene Model

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

AlphaFold

A2AKG8

Predicted Effect

unknown
Transcript: ENSMUST00000097992
AA Change: L1215P

SMART Domains

Protein: ENSMUSP00000095602
Gene: ENSMUSG00000038368
AA Change: L1215P

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: ENSMUST00000107148

Predicted Effect

unknown
Transcript: ENSMUST00000159342
AA Change: L1129P

SMART Domains

Protein: ENSMUSP00000124298
Gene: ENSMUSG00000038368
AA Change: L1129P

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: 99.8%
3x: 99.3%
10x: 97.2%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	C	T	6: 149,326,578	T374I	probably damaging	Het
4930563D23Rik	T	A	16: 92,320,671	E243V	probably damaging	Het
Aadacl4	A	T	4: 144,622,980	N269I	possibly damaging	Het
Abcc1	G	T	16: 14,465,142	V1161F	possibly damaging	Het
Adam3	A	T	8: 24,684,539		probably null	Het
Agt	A	T	8: 124,563,858	S237T	possibly damaging	Het
Ano3	A	T	2: 110,681,836	F674L	probably benign	Het
Asb2	G	T	12: 103,323,876	A504E	probably damaging	Het
Atp13a1	T	A	8: 69,807,098	I1113N	probably damaging	Het
Atxn7l2	T	C	3: 108,205,662		probably null	Het
Bambi	A	G	18: 3,511,463	T95A	probably benign	Het
Ccdc173	A	T	2: 69,789,462	M1K	probably null	Het
Clrn1	T	C	3: 58,846,362	T193A	probably benign	Het
Colgalt2	T	A	1: 152,504,122	D437E	probably damaging	Het
Dchs1	C	A	7: 105,759,166	A1820S	probably damaging	Het
Dnah12	T	A	14: 26,706,918	I233N	possibly damaging	Het
Dsc3	T	C	18: 19,987,020	N194D	probably damaging	Het
Dync2h1	A	G	9: 7,102,309		probably null	Het
Erich3	A	T	3: 154,695,823	R36S	probably damaging	Het
Fmnl3	A	T	15: 99,321,828	C680S	probably damaging	Het
Fzd3	G	A	14: 65,202,729	T664I	probably benign	Het
Glb1l3	T	C	9: 26,854,736	I129V	probably benign	Het
Heatr1	T	C	13: 12,434,471	F1950S	probably damaging	Het
Herc6	G	A	6: 57,646,203	G597E	probably benign	Het
Hmcn2	T	A	2: 31,396,139	V2101D	probably damaging	Het
Il17re	T	A	6: 113,470,123	C612S	probably damaging	Het
Il1f9	T	G	2: 24,192,794	*194E	probably null	Het
Junb	T	C	8: 84,977,876	Y185C	probably benign	Het
Lrriq1	G	A	10: 103,221,382	Q186*	probably null	Het
Lrrn2	T	A	1: 132,937,800	V201E	probably damaging	Het
Ly6l	A	T	15: 75,451,178	T68S	probably benign	Het
March1	G	T	8: 66,387,111	R182L	possibly damaging	Het
Megf6	A	G	4: 154,249,425		probably null	Het
Mga	T	A	2: 119,964,312	S2708T	probably benign	Het
Mx1	T	C	16: 97,451,733	T396A	probably benign	Het
Naip5	A	C	13: 100,222,701	S676A	probably benign	Het
Npepl1	G	T	2: 174,121,544	W456C	probably benign	Het
Ntrk2	A	G	13: 58,808,729	M1V	probably null	Het
Nufip1	T	C	14: 76,134,900	*485Q	probably null	Het
Ocln	T	G	13: 100,506,179	D216A	possibly damaging	Het
Olfr108	C	T	17: 37,445,679	L53F	probably benign	Het
Olfr1308	A	G	2: 111,960,830	M81T	probably damaging	Het
Olfr417	A	T	1: 174,369,132	T72S	probably damaging	Het
Olfr544	G	A	7: 102,484,379	S247F	probably damaging	Het
Papd4	T	C	13: 93,175,547	D215G	probably damaging	Het
Ptprq	A	T	10: 107,523,513	M2243K	probably damaging	Het
Rad51b	C	T	12: 79,325,082	Q190*	probably null	Het
Rfx8	T	C	1: 39,688,619	Y182C	probably benign	Het
Rpgrip1l	C	A	8: 91,252,913	R967L	possibly damaging	Het
Scube2	A	G	7: 109,831,724	Y423H	possibly damaging	Het
Sipa1l2	A	T	8: 125,468,573	Y809N	probably damaging	Het
Slc35f1	C	A	10: 52,933,221	Y101*	probably null	Het
Tbc1d22a	A	G	15: 86,214,608	K12E	possibly damaging	Het
Tmcc2	C	T	1: 132,357,691	V646M	probably damaging	Het
Tpp1	A	T	7: 105,749,380	M243K	probably damaging	Het
Trappc12	A	G	12: 28,691,514	L732P	probably damaging	Het
U2af2	A	T	7: 5,079,180		probably null	Het
Utrn	T	A	10: 12,665,051	N1877Y	probably damaging	Het
Vsir	C	T	10: 60,358,037	T93I	probably damaging	Het
Zkscan5	T	A	5: 145,205,302	M3K	possibly damaging	Het
Zscan29	G	T	2: 121,164,037	T489N	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
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
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
X0035:Focad	UTSW	4	88397922	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- CTCTGGATGAGCTTAGCAACTAAG -3'
(R):5'- TGTTCTCAGCCAAATGTCCAC -3'

Sequencing Primer
(F):5'- AGCAACTAAGCTGTGGTCTTTG -3'
(R):5'- ATGTCCACAGAAGCTGAGAC -3'

Posted On

2017-02-28