Mutagenetix > Incidental Mutation

Incidental Mutation 'R6866:Focad'

535908

Institutional Source

Beutler Lab

Gene Symbol

Focad

Ensembl Gene

ENSMUSG00000038368

Gene Name

focadhesin

Synonyms

BC057079

MMRRC Submission

044965-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.515) question?

Stock #

R6866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88012866-88329248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88321623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1658 (I1658T)

Ref Sequence

ENSEMBL: ENSMUSP00000095602 (fasta)

Gene Model

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

AlphaFold

A2AKG8

Predicted Effect

probably benign
Transcript: ENSMUST00000097992
AA Change: I1658T

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000095602
Gene: ENSMUSG00000038368
AA Change: I1658T

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: ENSMUST00000107147
AA Change: I64T

SMART Domains

Protein: ENSMUSP00000102765
Gene: ENSMUSG00000038368
AA Change: I64T

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: I1572T

SMART Domains

Protein: ENSMUSP00000124298
Gene: ENSMUSG00000038368
AA Change: I1572T

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: 99.3%
20x: 97.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	A	G	6: 85,598,080 (GRCm39)	T1438A	possibly damaging	Het
Als2	T	A	1: 59,250,292 (GRCm39)	Q484L	probably damaging	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Bcl2l13	T	A	6: 120,839,850 (GRCm39)	N49K	probably benign	Het
Bptf	T	C	11: 106,964,406 (GRCm39)	D1596G	probably damaging	Het
Brsk1	T	C	7: 4,709,406 (GRCm39)	M325T	probably damaging	Het
Caly	T	C	7: 139,650,532 (GRCm39)	M137V	probably benign	Het
Cdca2	T	C	14: 67,931,115 (GRCm39)	E526G	possibly damaging	Het
Cnga4	A	G	7: 105,056,952 (GRCm39)	S352G	possibly damaging	Het
Cntnap5c	A	C	17: 58,399,289 (GRCm39)	T381P	probably benign	Het
Cr2	T	A	1: 194,833,999 (GRCm39)	Y633F	probably damaging	Het
Cryba1	T	C	11: 77,610,355 (GRCm39)	N120S	probably benign	Het
Cyfip2	G	A	11: 46,133,286 (GRCm39)	R805*	probably null	Het
Dnah7c	C	A	1: 46,696,403 (GRCm39)	P2095Q	probably damaging	Het
Eif3k	T	C	7: 28,676,651 (GRCm39)	E110G	possibly damaging	Het
Extl2	T	A	3: 115,821,002 (GRCm39)	M283K	probably damaging	Het
Extl2	A	G	3: 115,821,001 (GRCm39)	M283V	probably damaging	Het
Fstl5	A	T	3: 76,229,532 (GRCm39)	H111L	probably damaging	Het
Garnl3	A	G	2: 32,892,785 (GRCm39)		probably null	Het
Gm3633	T	A	14: 42,462,579 (GRCm39)		probably benign	Het
Il4i1	T	A	7: 44,485,963 (GRCm39)		probably null	Het
Kcnj6	A	T	16: 94,563,536 (GRCm39)	C321S	probably damaging	Het
Kif20a	A	T	18: 34,761,546 (GRCm39)	Y313F	probably benign	Het
Kmt2d	T	G	15: 98,755,274 (GRCm39)		probably benign	Het
Kynu	T	A	2: 43,453,122 (GRCm39)	Y48*	probably null	Het
Ly9	T	C	1: 171,432,847 (GRCm39)	I55M	probably damaging	Het
Mgme1	T	C	2: 144,118,439 (GRCm39)	V237A	probably damaging	Het
Mmp16	T	A	4: 17,853,800 (GRCm39)	L27H	probably benign	Het
Mtres1	ACTGCACCACCT	ACT	10: 43,408,721 (GRCm39)		probably benign	Het
Myh1	A	C	11: 67,115,219 (GRCm39)	D1918A	probably damaging	Het
Myo5a	G	A	9: 75,047,970 (GRCm39)	C266Y	probably damaging	Het
Nckap5l	A	G	15: 99,324,349 (GRCm39)	I718T	probably benign	Het
Nptx1	A	G	11: 119,437,476 (GRCm39)		probably null	Het
Or56a42-ps1	T	A	7: 104,775,825 (GRCm39)	M228L	probably benign	Het
Or5k16	A	G	16: 58,736,351 (GRCm39)	Y218H	probably damaging	Het
Or5p76	A	G	7: 108,122,377 (GRCm39)	F260S	probably damaging	Het
Phc3	T	A	3: 30,968,680 (GRCm39)	K783*	probably null	Het
Pkdrej	A	T	15: 85,705,082 (GRCm39)	C285S	probably damaging	Het
Pot1b	T	A	17: 55,960,474 (GRCm39)	T619S	possibly damaging	Het
Pramel32	T	A	4: 88,545,977 (GRCm39)	D455V	probably damaging	Het
Psg21	A	T	7: 18,386,209 (GRCm39)	V259E	probably damaging	Het
Pvr	A	C	7: 19,652,555 (GRCm39)	I120S	probably benign	Het
Rbm17	T	G	2: 11,602,901 (GRCm39)	I68L	probably benign	Het
Rnf138	C	T	18: 21,135,199 (GRCm39)	P28L	probably damaging	Het
Rnf207	C	T	4: 152,396,989 (GRCm39)	C385Y	possibly damaging	Het
Serping1	A	C	2: 84,600,577 (GRCm39)	V255G	probably benign	Het
Slc25a3	A	T	10: 90,955,567 (GRCm39)	V91E	probably damaging	Het
Slc26a8	T	C	17: 28,857,455 (GRCm39)	D896G	probably benign	Het
Slc27a5	T	A	7: 12,731,443 (GRCm39)	T183S	probably benign	Het
Slc33a1	A	T	3: 63,850,744 (GRCm39)	F527I	probably benign	Het
Sting1	T	C	18: 35,872,482 (GRCm39)	H50R	probably damaging	Het
Strn4	A	T	7: 16,562,710 (GRCm39)	D283V	probably damaging	Het
Sult1e1	G	A	5: 87,734,625 (GRCm39)	T107I	probably damaging	Het
Tango6	G	A	8: 107,469,104 (GRCm39)		probably null	Het
Tecrl	G	T	5: 83,461,161 (GRCm39)	P99T	probably damaging	Het
Ticrr	T	C	7: 79,343,705 (GRCm39)	L1190P	possibly damaging	Het
Timm50	C	T	7: 28,005,370 (GRCm39)	R349H	probably damaging	Het
Tjp2	A	G	19: 24,079,355 (GRCm39)	I840T	probably damaging	Het
Tmem45a2	T	A	16: 56,867,386 (GRCm39)	N105I	probably damaging	Het
Tsbp1	T	A	17: 34,678,935 (GRCm39)	C216S	possibly damaging	Het
Zfp148	T	A	16: 33,288,496 (GRCm39)	C162S	probably damaging	Het
Zfp534	T	C	4: 147,758,938 (GRCm39)	K577R	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
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
R8024:Focad	UTSW	4	88,315,237 (GRCm39)	missense	unknown
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'- CTTAAAGCTGTCCAGGGACC -3'
(R):5'- GGTCTTAGATCTGGTGCAGC -3'

Sequencing Primer
(F):5'- CAGGGACCTCTGAGCATGTATG -3'
(R):5'- TCCAAAGTTCAGTGGACCCTG -3'

Posted On

2018-10-18