Mutagenetix > Incidental Mutation

Incidental Mutation 'R6902:Focad'

538576

Institutional Source

Beutler Lab

Gene Symbol

Focad

Ensembl Gene

ENSMUSG00000038368

Gene Name

focadhesin

Synonyms

BC057079

MMRRC Submission

045032-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.515) question?

Stock #

R6902 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88012866-88329248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88148713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 477 (R477C)

Ref Sequence

ENSEMBL: ENSMUSP00000124298 (fasta)

Gene Model

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

AlphaFold

A2AKG8

Predicted Effect

unknown
Transcript: ENSMUST00000097992
AA Change: R563C

SMART Domains

Protein: ENSMUSP00000095602
Gene: ENSMUSG00000038368
AA Change: R563C

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: ENSMUST00000159342
AA Change: R477C

SMART Domains

Protein: ENSMUSP00000124298
Gene: ENSMUSG00000038368
AA Change: R477C

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: 99.2%
20x: 97.6%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	G	13: 119,624,680 (GRCm39)		probably benign	Het
Abcc9	T	A	6: 142,624,953 (GRCm39)	S481C	probably damaging	Het
Adgrl3	C	A	5: 81,837,434 (GRCm39)	S773R	probably damaging	Het
Alkbh5	G	A	11: 60,429,381 (GRCm39)	A45T	probably benign	Het
Ankrd6	C	A	4: 32,806,419 (GRCm39)	Q576H	probably damaging	Het
Ankrd6	T	A	4: 32,806,420 (GRCm39)	Q576L	probably damaging	Het
Carmil1	T	C	13: 24,299,528 (GRCm39)	N332S	possibly damaging	Het
Cc2d2b	A	G	19: 40,804,733 (GRCm39)	Q1250R	possibly damaging	Het
Chd9	A	C	8: 91,769,579 (GRCm39)	N2539T	probably damaging	Het
Clec4b2	C	T	6: 123,177,987 (GRCm39)	Q101*	probably null	Het
Clstn2	A	T	9: 97,351,875 (GRCm39)	F517I	probably damaging	Het
Cog2	A	G	8: 125,273,430 (GRCm39)	K590E	probably damaging	Het
Coq9	G	A	8: 95,577,180 (GRCm39)	E182K	probably benign	Het
Fcgbpl1	C	T	7: 27,836,638 (GRCm39)	R186C	probably damaging	Het
Gja10	G	T	4: 32,601,905 (GRCm39)	H160N	probably damaging	Het
Gpr132	T	A	12: 112,815,830 (GRCm39)	Y332F	probably benign	Het
Herc2	A	G	7: 55,785,234 (GRCm39)	T1495A	probably benign	Het
Hivep3	T	A	4: 119,953,192 (GRCm39)	S503T	possibly damaging	Het
Ifi44	A	T	3: 151,451,536 (GRCm39)	I190N	possibly damaging	Het
Igf1r	T	A	7: 67,653,911 (GRCm39)	C150S	probably damaging	Het
Ighv1-42	T	A	12: 114,901,155 (GRCm39)	N4Y	possibly damaging	Het
Klra9	T	A	6: 130,156,003 (GRCm39)	I251F	probably benign	Het
Krt79	T	C	15: 101,840,314 (GRCm39)	N294S	probably benign	Het
Lama2	T	G	10: 26,857,625 (GRCm39)	T3075P	probably damaging	Het
Lrfn1	T	G	7: 28,159,238 (GRCm39)	C386G	probably benign	Het
Lrp2	T	C	2: 69,289,847 (GRCm39)	D3664G	probably damaging	Het
Mfsd3	T	A	15: 76,587,349 (GRCm39)	M344K	probably damaging	Het
Mier2	C	A	10: 79,376,673 (GRCm39)		probably benign	Het
Mmp2	G	A	8: 93,563,545 (GRCm39)	V340M	probably damaging	Het
Mrgprb3	T	A	7: 48,293,447 (GRCm39)	I35F	probably benign	Het
Myo5b	A	T	18: 74,809,756 (GRCm39)	I613F	possibly damaging	Het
Nicol1	G	A	5: 34,140,923 (GRCm39)		probably benign	Het
Or14c43	T	A	7: 86,114,995 (GRCm39)	C125*	probably null	Het
Or51f1e	A	T	7: 102,747,562 (GRCm39)	I205F	probably benign	Het
Or7d11	A	T	9: 19,966,670 (GRCm39)	L30M	possibly damaging	Het
Or8g30	C	A	9: 39,230,315 (GRCm39)	L198F	probably damaging	Het
Pan2	A	G	10: 128,151,506 (GRCm39)	T867A	probably benign	Het
Papolb	T	A	5: 142,513,906 (GRCm39)	H579L	probably benign	Het
Pcf11	C	A	7: 92,307,507 (GRCm39)	G887V	probably damaging	Het
Pdzd8	A	G	19: 59,289,829 (GRCm39)	S524P	possibly damaging	Het
Pole3	T	C	4: 62,442,300 (GRCm39)		probably benign	Het
Prdm14	C	T	1: 13,192,645 (GRCm39)	V365I	probably benign	Het
Shank1	T	A	7: 44,006,239 (GRCm39)	F1985L	probably benign	Het
Slc13a1	T	C	6: 24,097,665 (GRCm39)	I421V	possibly damaging	Het
Slc2a6	C	T	2: 26,913,172 (GRCm39)	V374M	probably benign	Het
Spata1	A	T	3: 146,181,078 (GRCm39)	N293K	possibly damaging	Het
Stk40	T	A	4: 126,031,605 (GRCm39)	D366E	probably benign	Het
Tas2r117	T	C	6: 132,780,288 (GRCm39)	L142S	probably damaging	Het
Tomm70a	T	C	16: 56,958,444 (GRCm39)	S266P	probably damaging	Het
Trgv1	T	C	13: 19,524,190 (GRCm39)	L2P	probably benign	Het
Vipr2	A	T	12: 116,102,819 (GRCm39)	T310S	possibly damaging	Het
Vti1a	A	T	19: 55,487,673 (GRCm39)		probably null	Het
Zfp961	A	G	8: 72,722,522 (GRCm39)	K345R	probably damaging	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
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'- TGCAAGGAAAGCCTCTATAATCAC -3'
(R):5'- GCCTACTGCTTAGTTGTCAGAC -3'

Sequencing Primer
(F):5'- ATCACAACAGCATTATTCTCTGC -3'
(R):5'- AGAGGAAATGTCATGTCATATCATG -3'

Posted On

2018-11-06