Mutagenetix > Incidental Mutation

Incidental Mutation 'R6230:Focad'

504611

Institutional Source

Beutler Lab

Gene Symbol

Focad

Ensembl Gene

ENSMUSG00000038368

Gene Name

focadhesin

Synonyms

BC057079

MMRRC Submission

044359-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.515) question?

Stock #

R6230 (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 88260441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 899 (I899T)

Ref Sequence

ENSEMBL: ENSMUSP00000124298 (fasta)

Gene Model

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

AlphaFold

A2AKG8

Predicted Effect

unknown
Transcript: ENSMUST00000097992
AA Change: I985T

SMART Domains

Protein: ENSMUSP00000095602
Gene: ENSMUSG00000038368
AA Change: I985T

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: I899T

SMART Domains

Protein: ENSMUSP00000124298
Gene: ENSMUSG00000038368
AA Change: I899T

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.1%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp	T	C	2: 168,024,452 (GRCm39)	T948A	probably benign	Het
Arhgef12	T	C	9: 42,900,261 (GRCm39)	I871V	probably benign	Het
Atf1	T	C	15: 100,130,705 (GRCm39)	V25A	possibly damaging	Het
Atp23	G	A	10: 126,723,431 (GRCm39)	H224Y	probably benign	Het
Ccpg1	A	G	9: 72,919,638 (GRCm39)	T418A	probably benign	Het
Col27a1	T	C	4: 63,142,519 (GRCm39)	I69T	probably damaging	Het
Cspp1	T	C	1: 10,147,422 (GRCm39)	S328P	probably benign	Het
Cttnbp2nl	C	T	3: 104,918,655 (GRCm39)	E62K	probably damaging	Het
Cyp2c39	T	C	19: 39,525,246 (GRCm39)	F183S	probably damaging	Het
Dync2li1	T	C	17: 84,955,078 (GRCm39)	S246P	probably damaging	Het
Ext2	A	G	2: 93,592,965 (GRCm39)	I413T	probably damaging	Het
Fam174a	T	C	1: 95,241,951 (GRCm39)	V137A	probably damaging	Het
Flg	T	A	3: 93,186,782 (GRCm39)	V78E	probably damaging	Het
Fn3krp	C	A	11: 121,316,418 (GRCm39)	H111N	probably damaging	Het
Foxq1	T	C	13: 31,743,491 (GRCm39)	Y198H	probably damaging	Het
Gm21060	A	T	19: 61,285,449 (GRCm39)	M20K	probably benign	Het
Kif16b	A	T	2: 142,691,832 (GRCm39)	N217K	probably damaging	Het
Klkb1	A	G	8: 45,736,252 (GRCm39)	Y162H	probably benign	Het
Kntc1	T	A	5: 123,927,072 (GRCm39)		probably null	Het
Madd	C	T	2: 90,973,866 (GRCm39)		probably null	Het
Mast2	T	A	4: 116,183,295 (GRCm39)	H258L	probably damaging	Het
Musk	T	C	4: 58,367,576 (GRCm39)	V598A	probably damaging	Het
Nexn	T	A	3: 151,943,912 (GRCm39)	Q539L	probably damaging	Het
Nf2	T	C	11: 4,758,262 (GRCm39)	K130E	possibly damaging	Het
Nlrp14	A	T	7: 106,781,024 (GRCm39)	I74F	probably benign	Het
Omg	T	C	11: 79,393,784 (GRCm39)	I25V	probably benign	Het
Or56b35	A	G	7: 104,963,289 (GRCm39)	H26R	possibly damaging	Het
Or8b54	T	G	9: 38,687,073 (GRCm39)	I174S	possibly damaging	Het
Parp4	A	G	14: 56,844,990 (GRCm39)	D627G	probably damaging	Het
Pdia6	A	G	12: 17,327,214 (GRCm39)	E126G	probably benign	Het
Ppp1r2	T	A	16: 31,079,418 (GRCm39)	D127V	possibly damaging	Het
Pramel17	T	A	4: 101,694,411 (GRCm39)	E157D	probably damaging	Het
Rgs22	A	G	15: 36,100,176 (GRCm39)	S304P	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Ryr2	T	C	13: 11,674,993 (GRCm39)	Y3378C	probably damaging	Het
Shoc1	T	C	4: 59,099,345 (GRCm39)	N116D	probably benign	Het
Slitrk5	GACTAC	GACTACTAC	14: 111,917,248 (GRCm39)		probably benign	Het
Smurf2	T	C	11: 106,759,330 (GRCm39)		probably null	Het
Tanc1	T	C	2: 59,672,375 (GRCm39)	F1348L	probably damaging	Het
Tars3	A	T	7: 65,336,184 (GRCm39)		probably null	Het
Tmem213	A	T	6: 38,091,551 (GRCm39)	S52C	probably damaging	Het
Ttn	T	C	2: 76,749,778 (GRCm39)	D3757G	probably benign	Het
Usp16	C	T	16: 87,261,686 (GRCm39)	P101S	possibly damaging	Het
Usp19	G	A	9: 108,379,140 (GRCm39)	M1318I	probably damaging	Het
Vmn1r75	G	A	7: 11,614,966 (GRCm39)	A233T	probably damaging	Het
Vsir	A	T	10: 60,193,857 (GRCm39)	N107Y	probably damaging	Het
Zfp160	T	C	17: 21,246,707 (GRCm39)	V419A	probably benign	Het
Zfp808	A	T	13: 62,320,136 (GRCm39)	H455L	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
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
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'- TTCAGTGGGCAGAGGAAACC -3'
(R):5'- TGGATGTTAGGATAGTCAACCCTTG -3'

Sequencing Primer
(F):5'- GAGGAAACCTGAGTATATTCTGCTG -3'
(R):5'- AGGATAGTCAACCCTTGTCTTTCTGG -3'

Posted On

2018-02-28