Mutagenetix > Incidental Mutation

Incidental Mutation 'R8024:Focad'

617569

Institutional Source

Beutler Lab

Gene Symbol

Focad

Ensembl Gene

ENSMUSG00000038368

Gene Name

focadhesin

Synonyms

BC057079

MMRRC Submission

067463-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.515) question?

Stock #

R8024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88012866-88329248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88315237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1379 (V1379A)

Ref Sequence

ENSEMBL: ENSMUSP00000124298 (fasta)

Gene Model

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

AlphaFold

A2AKG8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097992
AA Change: V1465A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095602
Gene: ENSMUSG00000038368
AA Change: V1465A

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

SMART Domains

Protein: ENSMUSP00000102765
Gene: ENSMUSG00000038368

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

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

unknown
Transcript: ENSMUST00000159342
AA Change: V1379A

SMART Domains

Protein: ENSMUSP00000124298
Gene: ENSMUSG00000038368
AA Change: V1379A

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,760,713 (GRCm39)	N1257Y	probably benign	Het
2310057J18Rik	A	T	10: 28,858,591 (GRCm39)	Y133*	probably null	Het
2310057J18Rik	A	C	10: 28,862,213 (GRCm39)	S26A	possibly damaging	Het
9930012K11Rik	G	T	14: 70,394,116 (GRCm39)	P220T	probably damaging	Het
Adam1b	A	C	5: 121,638,986 (GRCm39)	S686R	probably benign	Het
Adam8	T	C	7: 139,567,489 (GRCm39)	D418G	probably damaging	Het
Adcy8	A	G	15: 64,792,095 (GRCm39)	L287P	probably damaging	Het
Adhfe1	T	A	1: 9,634,080 (GRCm39)	M373K	probably benign	Het
Alpk2	T	C	18: 65,438,106 (GRCm39)	S1096G	probably benign	Het
Ankmy1	A	G	1: 92,812,716 (GRCm39)	V531A	probably benign	Het
Ano3	C	T	2: 110,498,128 (GRCm39)	E738K	probably damaging	Het
Ano4	T	A	10: 88,807,194 (GRCm39)	I796F	probably damaging	Het
Apeh	T	C	9: 107,969,790 (GRCm39)	E190G	probably benign	Het
Atpsckmt	T	C	15: 31,608,317 (GRCm39)	Y123H	probably damaging	Het
Cadm3	A	G	1: 173,165,622 (GRCm39)	L346P	probably damaging	Het
Ccdc9b	A	G	2: 118,591,005 (GRCm39)		probably null	Het
Clec2e	G	A	6: 129,071,388 (GRCm39)	H150Y	possibly damaging	Het
Cnga4	A	T	7: 105,056,042 (GRCm39)	N318Y	probably damaging	Het
Cnr2	T	A	4: 135,644,196 (GRCm39)	F91L	probably damaging	Het
Diaph3	T	A	14: 86,893,835 (GRCm39)	E1147V	probably damaging	Het
Elmo2	T	C	2: 165,133,775 (GRCm39)	T738A	unknown	Het
Exoc4	T	A	6: 33,324,866 (GRCm39)	W387R	probably damaging	Het
Frmd4a	T	C	2: 4,608,513 (GRCm39)	S794P	probably damaging	Het
Ftl1-ps1	A	G	13: 74,555,170 (GRCm39)	T150A	probably benign	Het
Gm43517	A	T	12: 49,436,409 (GRCm39)		probably benign	Het
Gm5773	C	T	3: 93,680,475 (GRCm39)	A49V	probably benign	Het
Helz	T	A	11: 107,577,247 (GRCm39)	L1867Q	unknown	Het
Il22ra1	A	G	4: 135,461,589 (GRCm39)	H118R	probably benign	Het
Inf2	C	T	12: 112,575,336 (GRCm39)	P856S	unknown	Het
Ints5	T	A	19: 8,873,504 (GRCm39)	L488I	probably damaging	Het
Iqca1l	A	G	5: 24,755,634 (GRCm39)	M296T	possibly damaging	Het
Kifc1	G	A	17: 34,102,177 (GRCm39)	R479C	probably damaging	Het
Lrba	T	A	3: 86,202,708 (GRCm39)	C289*	probably null	Het
Mael	A	G	1: 166,054,196 (GRCm39)	L196S	probably damaging	Het
Med23	T	A	10: 24,755,581 (GRCm39)	S229R	possibly damaging	Het
Mroh9	T	C	1: 162,866,802 (GRCm39)	N645D	probably benign	Het
Myom3	G	A	4: 135,529,059 (GRCm39)	V1132I	probably benign	Het
Naalad2	T	G	9: 18,308,769 (GRCm39)		probably benign	Het
Ndufa13	A	T	8: 70,347,187 (GRCm39)	L71H	probably damaging	Het
Nepro	A	T	16: 44,551,778 (GRCm39)	H212L	probably benign	Het
Nmd3	T	A	3: 69,637,298 (GRCm39)		probably benign	Het
Nox4	T	A	7: 86,954,118 (GRCm39)	L141Q	probably damaging	Het
Or4a81	T	C	2: 89,619,390 (GRCm39)	E102G	probably benign	Het
Or5p53	T	C	7: 107,533,645 (GRCm39)	V306A	probably benign	Het
Or5p58	T	A	7: 107,694,496 (GRCm39)	T94S	probably benign	Het
Or6c215	T	G	10: 129,637,812 (GRCm39)	E194A	probably damaging	Het
Or8s2	T	A	15: 98,276,878 (GRCm39)	M38L	probably benign	Het
Pfpl	A	G	19: 12,407,570 (GRCm39)	D607G	possibly damaging	Het
Pkd1l2	A	T	8: 117,802,921 (GRCm39)	F233L	possibly damaging	Het
Prl6a1	A	G	13: 27,502,678 (GRCm39)		probably benign	Het
Ptprz1	A	T	6: 23,042,750 (GRCm39)	E2058V	probably damaging	Het
Rag1	A	T	2: 101,472,852 (GRCm39)	N763K	probably damaging	Het
Rhbg	A	C	3: 88,155,760 (GRCm39)	D63E	probably damaging	Het
Rrm1	T	A	7: 102,106,472 (GRCm39)	F330L	probably benign	Het
Scaf8	A	T	17: 3,209,568 (GRCm39)	Q97L	unknown	Het
Sdr9c7	G	A	10: 127,734,751 (GRCm39)	V80I	probably benign	Het
Slc18a1	A	G	8: 69,527,799 (GRCm39)	V4A	probably benign	Het
Slco3a1	T	A	7: 74,204,218 (GRCm39)	I41F	probably benign	Het
Slirp	T	C	12: 87,494,370 (GRCm39)	V45A	probably damaging	Het
Spata31	A	T	13: 65,070,618 (GRCm39)	Q922L	probably benign	Het
Spg11	A	G	2: 121,927,802 (GRCm39)	S661P	possibly damaging	Het
Stab2	G	T	10: 86,681,916 (GRCm39)	T2495K	probably benign	Het
Supt16	A	G	14: 52,408,332 (GRCm39)	I871T	probably damaging	Het
Sval2	A	G	6: 41,837,298 (GRCm39)	Q9R	probably damaging	Het
Syngap1	A	T	17: 27,160,426 (GRCm39)	M1L	probably benign	Het
Tfpi	A	T	2: 84,284,266 (GRCm39)	M62K	possibly damaging	Het
Tm4sf1	A	T	3: 57,195,186 (GRCm39)	Y200*	probably null	Het
Tmc1	A	T	19: 20,878,181 (GRCm39)	W105R	probably damaging	Het
Tmtc2	T	C	10: 105,025,987 (GRCm39)	E827G	probably benign	Het
Tollip	T	C	7: 141,446,563 (GRCm39)	I33V	probably benign	Het
Unc80	T	A	1: 66,645,803 (GRCm39)	V1493D	possibly damaging	Het
Vmn2r6	G	A	3: 64,467,245 (GRCm39)	R85W	probably benign	Het
Vwa5a	C	A	9: 38,647,316 (GRCm39)	S565*	probably null	Het
Xbp1	T	A	11: 5,471,910 (GRCm39)	V12D	probably benign	Het

Other mutations in Focad

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Focad	APN	4	88,275,711 (GRCm39)	missense	unknown
IGL00562:Focad	APN	4	88,267,046 (GRCm39)	missense	unknown
IGL00563:Focad	APN	4	88,267,046 (GRCm39)	missense	unknown
IGL00900:Focad	APN	4	88,047,260 (GRCm39)	missense	probably damaging	0.99
IGL00984:Focad	APN	4	88,263,022 (GRCm39)	missense	unknown
IGL01016:Focad	APN	4	88,310,252 (GRCm39)	missense	possibly damaging	0.51
IGL01069:Focad	APN	4	88,244,383 (GRCm39)	missense	unknown
IGL01305:Focad	APN	4	88,311,784 (GRCm39)	missense	probably benign	0.32
IGL01409:Focad	APN	4	88,260,542 (GRCm39)	missense	unknown
IGL01447:Focad	APN	4	88,244,465 (GRCm39)	missense	unknown
IGL01521:Focad	APN	4	88,328,927 (GRCm39)	makesense	probably null
IGL01672:Focad	APN	4	88,278,827 (GRCm39)	critical splice donor site	probably null
IGL01739:Focad	APN	4	88,289,043 (GRCm39)	missense	unknown
IGL02082:Focad	APN	4	88,148,815 (GRCm39)	nonsense	probably null
IGL02139:Focad	APN	4	88,047,291 (GRCm39)	critical splice donor site	probably null
IGL02381:Focad	APN	4	88,192,327 (GRCm39)	splice site	probably benign
IGL02898:Focad	APN	4	88,310,234 (GRCm39)	missense	probably benign	0.02
certitude	UTSW	4	88,096,370 (GRCm39)	missense	probably damaging	1.00
impression	UTSW	4	88,196,479 (GRCm39)	missense	unknown
Microscope	UTSW	4	88,260,441 (GRCm39)	missense	unknown
Nuance	UTSW	4	88,115,083 (GRCm39)	intron	probably benign
Objective	UTSW	4	88,319,305 (GRCm39)	nonsense	probably null
ANU22:Focad	UTSW	4	88,311,784 (GRCm39)	missense	probably benign	0.32
R0025:Focad	UTSW	4	88,327,196 (GRCm39)	missense	probably benign	0.02
R0554:Focad	UTSW	4	88,267,126 (GRCm39)	missense	unknown
R0617:Focad	UTSW	4	88,039,525 (GRCm39)	unclassified	probably benign
R0688:Focad	UTSW	4	88,192,450 (GRCm39)	missense	unknown
R0746:Focad	UTSW	4	88,315,451 (GRCm39)	missense	possibly damaging	0.84
R0907:Focad	UTSW	4	88,196,498 (GRCm39)	critical splice donor site	probably null
R1109:Focad	UTSW	4	88,114,984 (GRCm39)	intron	probably benign
R1136:Focad	UTSW	4	88,244,417 (GRCm39)	missense	unknown
R1185:Focad	UTSW	4	88,096,424 (GRCm39)	missense	probably benign	0.40
R1185:Focad	UTSW	4	88,096,424 (GRCm39)	missense	probably benign	0.40
R1185:Focad	UTSW	4	88,096,424 (GRCm39)	missense	probably benign	0.40
R1412:Focad	UTSW	4	88,196,498 (GRCm39)	critical splice donor site	probably null
R1453:Focad	UTSW	4	88,275,679 (GRCm39)	critical splice acceptor site	probably null
R1697:Focad	UTSW	4	88,327,225 (GRCm39)	missense	probably damaging	0.98
R1739:Focad	UTSW	4	88,316,128 (GRCm39)	missense	probably benign	0.05
R1767:Focad	UTSW	4	88,275,705 (GRCm39)	missense	unknown
R1827:Focad	UTSW	4	88,147,620 (GRCm39)	missense	probably benign	0.03
R1866:Focad	UTSW	4	88,325,402 (GRCm39)	missense	possibly damaging	0.92
R1867:Focad	UTSW	4	88,096,326 (GRCm39)	missense	probably damaging	0.99
R1929:Focad	UTSW	4	88,260,449 (GRCm39)	missense	unknown
R1929:Focad	UTSW	4	88,315,416 (GRCm39)	missense	probably benign	0.32
R1937:Focad	UTSW	4	88,319,318 (GRCm39)	start codon destroyed	probably null
R1989:Focad	UTSW	4	88,151,021 (GRCm39)	critical splice donor site	probably null
R2176:Focad	UTSW	4	88,197,481 (GRCm39)	missense	unknown
R2393:Focad	UTSW	4	88,039,567 (GRCm39)	missense	probably damaging	0.96
R2431:Focad	UTSW	4	88,249,264 (GRCm39)	missense	unknown
R3195:Focad	UTSW	4	88,325,588 (GRCm39)	missense	possibly damaging	0.85
R3196:Focad	UTSW	4	88,325,588 (GRCm39)	missense	possibly damaging	0.85
R3730:Focad	UTSW	4	88,327,162 (GRCm39)	missense	possibly damaging	0.52
R3772:Focad	UTSW	4	88,254,398 (GRCm39)	splice site	probably benign
R4391:Focad	UTSW	4	88,104,195 (GRCm39)	missense	probably damaging	1.00
R4491:Focad	UTSW	4	88,278,142 (GRCm39)	critical splice donor site	probably null
R4492:Focad	UTSW	4	88,278,142 (GRCm39)	critical splice donor site	probably null
R4703:Focad	UTSW	4	88,260,558 (GRCm39)	critical splice donor site	probably null
R4788:Focad	UTSW	4	88,275,706 (GRCm39)	missense	unknown
R4923:Focad	UTSW	4	88,115,083 (GRCm39)	intron	probably benign
R5026:Focad	UTSW	4	88,262,819 (GRCm39)	missense	unknown
R5122:Focad	UTSW	4	88,325,602 (GRCm39)	critical splice donor site	probably null
R5153:Focad	UTSW	4	88,278,121 (GRCm39)	missense	unknown
R5369:Focad	UTSW	4	88,039,610 (GRCm39)	splice site	probably benign
R5414:Focad	UTSW	4	88,328,939 (GRCm39)	utr 3 prime	probably benign
R5839:Focad	UTSW	4	88,115,083 (GRCm39)	intron	probably benign
R5916:Focad	UTSW	4	88,275,778 (GRCm39)	missense	unknown
R5953:Focad	UTSW	4	88,147,572 (GRCm39)	missense	probably benign	0.01
R5991:Focad	UTSW	4	88,319,256 (GRCm39)	missense	possibly damaging	0.91
R6230:Focad	UTSW	4	88,260,441 (GRCm39)	missense	unknown
R6247:Focad	UTSW	4	88,325,377 (GRCm39)	missense	possibly damaging	0.92
R6324:Focad	UTSW	4	88,319,305 (GRCm39)	nonsense	probably null
R6543:Focad	UTSW	4	88,197,493 (GRCm39)	missense	unknown
R6639:Focad	UTSW	4	88,196,479 (GRCm39)	missense	unknown
R6802:Focad	UTSW	4	88,262,921 (GRCm39)	missense	unknown
R6802:Focad	UTSW	4	88,192,440 (GRCm39)	missense	unknown
R6866:Focad	UTSW	4	88,321,623 (GRCm39)	missense	probably benign	0.34
R6902:Focad	UTSW	4	88,148,713 (GRCm39)	missense	unknown
R6928:Focad	UTSW	4	88,267,112 (GRCm39)	missense	unknown
R7036:Focad	UTSW	4	88,042,874 (GRCm39)	missense	probably benign	0.05
R7057:Focad	UTSW	4	88,192,342 (GRCm39)	missense	unknown
R7077:Focad	UTSW	4	88,328,914 (GRCm39)	missense	unknown
R7242:Focad	UTSW	4	88,228,143 (GRCm39)	missense	unknown
R7357:Focad	UTSW	4	88,147,572 (GRCm39)	missense	probably benign	0.19
R7380:Focad	UTSW	4	88,192,435 (GRCm39)	missense	unknown
R7427:Focad	UTSW	4	88,286,988 (GRCm39)	missense	unknown
R7582:Focad	UTSW	4	88,147,615 (GRCm39)	missense	probably benign	0.00
R7661:Focad	UTSW	4	88,221,772 (GRCm39)	missense	unknown
R7688:Focad	UTSW	4	88,096,370 (GRCm39)	missense	probably damaging	1.00
R7789:Focad	UTSW	4	88,147,643 (GRCm39)	missense	unknown
R7880:Focad	UTSW	4	88,319,407 (GRCm39)	missense	unknown
R7887:Focad	UTSW	4	88,100,853 (GRCm39)	missense	probably damaging	1.00
R8129:Focad	UTSW	4	88,151,000 (GRCm39)	missense	unknown
R8369:Focad	UTSW	4	88,150,905 (GRCm39)	missense	unknown
R8837:Focad	UTSW	4	88,072,905 (GRCm39)	missense	probably damaging	0.96
R9014:Focad	UTSW	4	88,275,763 (GRCm39)	missense	unknown
R9282:Focad	UTSW	4	88,115,059 (GRCm39)	missense	unknown
R9431:Focad	UTSW	4	88,321,583 (GRCm39)	missense	unknown
R9435:Focad	UTSW	4	88,267,076 (GRCm39)	missense	unknown
R9676:Focad	UTSW	4	88,273,682 (GRCm39)	missense	unknown
X0035:Focad	UTSW	4	88,316,159 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- CTTTGGACTATGAAGCCATGGG -3'
(R):5'- CCGAATCCTATTTGGCAGAAGG -3'

Sequencing Primer
(F):5'- CTATGAAGCCATGGGAAAATGC -3'
(R):5'- TTCTCCCAGTAGCATCGCAGAG -3'

Posted On

2020-01-23