Mutagenetix > Incidental Mutation

Incidental Mutation 'R6928:Focad'

539832

Institutional Source

Beutler Lab

Gene Symbol

Focad

Ensembl Gene

ENSMUSG00000038368

Gene Name

focadhesin

Synonyms

BC057079

MMRRC Submission

045045-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.515) question?

Stock #

R6928 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88012866-88329248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88267112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1041 (D1041G)

Ref Sequence

ENSEMBL: ENSMUSP00000124298 (fasta)

Gene Model

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

AlphaFold

A2AKG8

Predicted Effect

unknown
Transcript: ENSMUST00000097992
AA Change: D1127G

SMART Domains

Protein: ENSMUSP00000095602
Gene: ENSMUSG00000038368
AA Change: D1127G

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: D1041G

SMART Domains

Protein: ENSMUSP00000124298
Gene: ENSMUSG00000038368
AA Change: D1041G

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: 99.1%
20x: 97.5%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	A	G	6: 55,456,257 (GRCm39)	D215G	possibly damaging	Het
Asb3	A	T	11: 30,948,326 (GRCm39)	M40L	probably damaging	Het
Aspg	G	A	12: 112,093,123 (GRCm39)	V547M	possibly damaging	Het
Aspm	T	A	1: 139,407,944 (GRCm39)	L2277*	probably null	Het
Atp7b	A	G	8: 22,484,828 (GRCm39)	S1295P	probably benign	Het
Cdca2	A	G	14: 67,943,193 (GRCm39)	S199P	probably damaging	Het
Cdh1	A	G	8: 107,387,642 (GRCm39)	E514G	possibly damaging	Het
Cenpk	G	T	13: 104,365,500 (GRCm39)		probably benign	Het
Col6a5	C	A	9: 105,817,118 (GRCm39)	V398L	unknown	Het
Colec10	A	T	15: 54,326,002 (GRCm39)	K277N	probably damaging	Het
Cryzl2	T	G	1: 157,298,357 (GRCm39)	S249A	probably benign	Het
Cspg4	T	A	9: 56,805,164 (GRCm39)	Y1992N	possibly damaging	Het
Drd3	G	T	16: 43,641,683 (GRCm39)	R333L	probably benign	Het
Espl1	C	T	15: 102,207,342 (GRCm39)	R269C	probably benign	Het
Esr2	C	T	12: 76,212,252 (GRCm39)	C188Y	probably damaging	Het
Frem3	T	C	8: 81,337,911 (GRCm39)	F68S	possibly damaging	Het
Gapdh	A	G	6: 125,139,634 (GRCm39)	V212A	probably damaging	Het
Gzmb	T	C	14: 56,497,734 (GRCm39)	K169E	probably benign	Het
Hexd	T	A	11: 121,102,880 (GRCm39)	F33I	possibly damaging	Het
Hsd3b6	T	C	3: 98,718,269 (GRCm39)	I32V	probably benign	Het
Jcad	T	C	18: 4,673,372 (GRCm39)	V378A	probably benign	Het
Kcnmb2	T	C	3: 32,253,190 (GRCm39)	S177P	probably benign	Het
Lrriq1	A	T	10: 103,050,800 (GRCm39)	S651T	possibly damaging	Het
Map3k2	T	C	18: 32,340,593 (GRCm39)		probably null	Het
Mib1	T	G	18: 10,802,282 (GRCm39)	S870A	probably benign	Het
Moap1	T	A	12: 102,708,871 (GRCm39)	N226I	probably damaging	Het
Moxd1	T	A	10: 24,176,186 (GRCm39)	N547K	probably damaging	Het
Mtmr9	A	G	14: 63,781,042 (GRCm39)	V16A	probably benign	Het
Nme1	T	C	11: 93,850,229 (GRCm39)	Y151C	probably damaging	Het
Nwd1	T	C	8: 73,408,653 (GRCm39)	F879L	probably benign	Het
Nynrin	T	G	14: 56,101,335 (GRCm39)	S335A	probably benign	Het
Or52ac1	A	T	7: 104,245,796 (GRCm39)	Y197*	probably null	Het
Or5ac25	C	A	16: 59,181,826 (GRCm39)	G252C	probably damaging	Het
Or5b102	A	T	19: 13,041,348 (GRCm39)	H191L	probably benign	Het
Or5b99	A	G	19: 12,977,202 (GRCm39)	N284S	probably damaging	Het
Or8d23	T	C	9: 38,841,862 (GRCm39)	Y132H	probably damaging	Het
Or8g21	T	C	9: 38,905,928 (GRCm39)	M268V	probably benign	Het
Pcdhb21	A	G	18: 37,647,474 (GRCm39)	E201G	probably damaging	Het
Plscr1	T	C	9: 92,152,004 (GRCm39)	V301A	possibly damaging	Het
Psg28	A	T	7: 18,157,003 (GRCm39)	S411T	possibly damaging	Het
Rif1	T	C	2: 51,985,973 (GRCm39)	W653R	probably damaging	Het
Rnd3	T	A	2: 51,022,518 (GRCm39)	I175L	probably benign	Het
Rtn4	A	G	11: 29,656,791 (GRCm39)	E199G	possibly damaging	Het
Sgpp1	T	C	12: 75,763,344 (GRCm39)	Y279C	probably damaging	Het
Slc2a13	A	G	15: 91,160,382 (GRCm39)	I524T	probably damaging	Het
Speer4a2	A	G	5: 26,290,586 (GRCm39)		probably null	Het
Spg11	C	T	2: 121,900,385 (GRCm39)	V1556I	probably benign	Het
Spopfm1	T	A	3: 94,173,855 (GRCm39)	C288S	probably benign	Het
Srebf2	C	T	15: 82,087,924 (GRCm39)	R215*	probably null	Het
Tdpoz8	G	A	3: 92,981,267 (GRCm39)	C95Y	probably damaging	Het
Tmem19	T	C	10: 115,183,179 (GRCm39)	N147S	possibly damaging	Het
Tpr	T	C	1: 150,284,536 (GRCm39)	S408P	possibly damaging	Het
Trav13d-4	C	T	14: 53,310,618 (GRCm39)	T53I	probably damaging	Het
Trf	T	A	9: 103,099,307 (GRCm39)	R168W	possibly damaging	Het
Trim11	A	G	11: 58,879,669 (GRCm39)	K273R	probably damaging	Het
Tsacc	T	A	3: 88,190,247 (GRCm39)	M68L	probably benign	Het
Ttn	T	A	2: 76,584,869 (GRCm39)	M22110L	probably benign	Het
Zfp160	G	T	17: 21,261,724 (GRCm39)	G104V	probably benign	Het
Zfp582	T	C	7: 6,357,266 (GRCm39)	Y360H	probably damaging	Het
Zranb1	G	A	7: 132,568,323 (GRCm39)	R301H	possibly 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
R6902:Focad	UTSW	4	88,148,713 (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'- ATCTCTCTGGACCAGAAGGC -3'
(R):5'- ACCGATAGCAGGGTTTAGGAAC -3'

Sequencing Primer
(F):5'- CTTTATGCATACTGGACAAGCACTC -3'
(R):5'- CAAAACAGTTTTGGTGCAAGATTC -3'

Posted On

2018-11-06