Mutagenetix > Incidental Mutation

Incidental Mutation 'R5338:Fcho2'

423655

Institutional Source

Beutler Lab

Gene Symbol

Fcho2

Ensembl Gene

ENSMUSG00000041685

Gene Name

FCH domain only 2

Synonyms

5832424M12Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5338 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98859911-98951957 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98867399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 688 (D688V)

Ref Sequence

ENSEMBL: ENSMUSP00000042959 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040340] [ENSMUST00000099277]

AlphaFold

Q3UQN2

Predicted Effect

probably damaging
Transcript: ENSMUST00000040340
AA Change: D688V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042959
Gene: ENSMUSG00000041685
AA Change: D688V

Domain	Start	End	E-Value	Type
FCH	8	94	1.74e-19	SMART
low complexity region	341	351	N/A	INTRINSIC
low complexity region	433	456	N/A	INTRINSIC
low complexity region	485	501	N/A	INTRINSIC
low complexity region	503	520	N/A	INTRINSIC
Pfam:muHD	542	808	2.5e-71	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099277

SMART Domains

Protein: ENSMUSP00000096883
Gene: ENSMUSG00000041685

Domain	Start	End	E-Value	Type
FCH	8	94	1.74e-19	SMART
low complexity region	342	352	N/A	INTRINSIC
low complexity region	434	457	N/A	INTRINSIC
low complexity region	486	502	N/A	INTRINSIC
low complexity region	504	521	N/A	INTRINSIC
Pfam:muHD	543	803	4.7e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225945

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	A	9: 99,502,597 (GRCm39)	N252K	probably damaging	Het
Abhd16a	A	G	17: 35,313,278 (GRCm39)	E132G	probably damaging	Het
Adgrv1	G	A	13: 81,677,165 (GRCm39)	R1889W	possibly damaging	Het
Aftph	A	T	11: 20,677,203 (GRCm39)	D135E	probably benign	Het
Arf1	A	C	11: 59,104,041 (GRCm39)	F63V	probably damaging	Het
Atg14	G	A	14: 47,805,656 (GRCm39)	R70C	probably damaging	Het
B3gnt7	T	A	1: 86,233,366 (GRCm39)	F87Y	probably damaging	Het
Bcat1	A	G	6: 144,953,353 (GRCm39)	Y345H	possibly damaging	Het
Birc2	G	T	9: 7,857,360 (GRCm39)	T371K	probably benign	Het
Ccdc175	A	T	12: 72,231,745 (GRCm39)	S5T	probably damaging	Het
Ccdc186	A	T	19: 56,801,689 (GRCm39)	S143T	possibly damaging	Het
Cct6b	A	T	11: 82,653,015 (GRCm39)	M28K	possibly damaging	Het
Cers4	C	A	8: 4,565,680 (GRCm39)	A42D	probably damaging	Het
Crmp1	G	T	5: 37,437,018 (GRCm39)	V236L	probably benign	Het
Ctdspl2	T	A	2: 121,811,793 (GRCm39)	N212K	probably benign	Het
Dclk3	T	C	9: 111,298,127 (GRCm39)	V557A	possibly damaging	Het
Dnmt1	A	T	9: 20,864,015 (GRCm39)	H23Q	probably benign	Het
Dpp8	G	T	9: 64,971,206 (GRCm39)	E609*	probably null	Het
Dtx3	C	A	10: 127,028,919 (GRCm39)	M106I	probably benign	Het
Ero1b	A	C	13: 12,589,732 (GRCm39)	D45A	probably damaging	Het
Fhod3	A	T	18: 25,161,138 (GRCm39)	S557C	probably damaging	Het
Flnc	T	C	6: 29,444,063 (GRCm39)	S626P	possibly damaging	Het
Foxi3	G	T	6: 70,937,602 (GRCm39)	G278V	probably damaging	Het
Gbp10	A	G	5: 105,372,166 (GRCm39)	L198P	probably damaging	Het
Gcn1	A	G	5: 115,721,462 (GRCm39)	T458A	probably benign	Het
Gigyf1	C	T	5: 137,521,422 (GRCm39)		probably benign	Het
Gtpbp2	A	C	17: 46,478,760 (GRCm39)	T526P	probably damaging	Het
Gys2	A	G	6: 142,400,239 (GRCm39)	L324S	probably damaging	Het
Hpn	C	A	7: 30,802,781 (GRCm39)	V119L	probably benign	Het
Ino80d	C	A	1: 63,098,098 (GRCm39)	V599L	probably benign	Het
Kcnh3	G	T	15: 99,140,275 (GRCm39)	G1054*	probably null	Het
Maml1	A	T	11: 50,157,778 (GRCm39)	D132E	probably benign	Het
Mastl	A	T	2: 23,023,503 (GRCm39)	S407T	probably benign	Het
Mettl1	T	C	10: 126,878,954 (GRCm39)	W3R	probably damaging	Het
Mprip	A	G	11: 59,651,399 (GRCm39)	Y1701C	probably damaging	Het
Mylk3	T	C	8: 86,069,350 (GRCm39)	N484D	probably damaging	Het
Nod2	G	A	8: 89,399,413 (GRCm39)		probably null	Het
Nrde2	A	T	12: 100,097,037 (GRCm39)	F921Y	probably damaging	Het
Nup88	G	T	11: 70,835,734 (GRCm39)	T575N	probably damaging	Het
Nxpe3	T	C	16: 55,686,706 (GRCm39)	T101A	possibly damaging	Het
Or1o3	T	A	17: 37,574,532 (GRCm39)	T8S	probably benign	Het
Or2r11	A	G	6: 42,437,908 (GRCm39)	M15T	probably benign	Het
Or4c109	C	T	2: 88,817,809 (GRCm39)	V246I	possibly damaging	Het
Or52e15	A	G	7: 104,645,514 (GRCm39)	L199S	possibly damaging	Het
Or8g32	A	T	9: 39,305,371 (GRCm39)	I92F	probably damaging	Het
Pcnx3	A	T	19: 5,722,624 (GRCm39)	L1356Q	probably damaging	Het
Pkd1	A	T	17: 24,813,510 (GRCm39)	M4017L	probably benign	Het
Polg2	A	G	11: 106,670,064 (GRCm39)	C69R	possibly damaging	Het
Prr5l	T	G	2: 101,547,452 (GRCm39)	S358R	probably benign	Het
Ptprg	A	G	14: 12,154,111 (GRCm38)	T611A	probably benign	Het
Ryk	G	T	9: 102,774,516 (GRCm39)	E417*	probably null	Het
Sbp	T	C	17: 24,161,396 (GRCm39)		probably benign	Het
Sema4a	T	C	3: 88,358,804 (GRCm39)	T155A	probably benign	Het
Shank3	A	G	15: 89,415,914 (GRCm39)		probably null	Het
Slc35d2	A	T	13: 64,245,496 (GRCm39)	M294K	possibly damaging	Het
Slc41a3	A	T	6: 90,589,153 (GRCm39)	N88I	possibly damaging	Het
Slit3	A	G	11: 35,512,975 (GRCm39)	T534A	probably benign	Het
Ssx2ip	A	G	3: 146,142,296 (GRCm39)		probably null	Het
Stard13	T	C	5: 150,983,063 (GRCm39)	K648R	probably damaging	Het
Tanc1	A	T	2: 59,626,178 (GRCm39)	T512S	probably damaging	Het
Tbcc	T	C	17: 47,202,082 (GRCm39)	V156A	probably benign	Het
Terf1	T	G	1: 15,901,787 (GRCm39)	I273R	possibly damaging	Het
Tesc	A	G	5: 118,197,523 (GRCm39)	Y179C	probably damaging	Het
Ttc3	T	G	16: 94,184,900 (GRCm39)	V40G	probably damaging	Het
Tysnd1	T	A	10: 61,532,028 (GRCm39)	F227I	probably damaging	Het
Vps53	T	C	11: 75,972,034 (GRCm39)	E271G	probably damaging	Het
Wdfy4	C	T	14: 32,812,823 (GRCm39)	R1650H	probably damaging	Het

Other mutations in Fcho2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01449:Fcho2	APN	13	98,926,315 (GRCm39)	missense	probably benign
IGL02058:Fcho2	APN	13	98,867,414 (GRCm39)	missense	probably damaging	0.98
IGL02516:Fcho2	APN	13	98,866,720 (GRCm39)	missense	probably benign	0.08
IGL02715:Fcho2	APN	13	98,932,843 (GRCm39)	missense	probably damaging	1.00
IGL03243:Fcho2	APN	13	98,913,892 (GRCm39)	splice site	probably benign
R0044:Fcho2	UTSW	13	98,892,052 (GRCm39)	intron	probably benign
R0087:Fcho2	UTSW	13	98,871,594 (GRCm39)	missense	probably benign	0.00
R0472:Fcho2	UTSW	13	98,884,775 (GRCm39)	missense	probably benign	0.01
R0501:Fcho2	UTSW	13	98,901,023 (GRCm39)	missense	possibly damaging	0.92
R1022:Fcho2	UTSW	13	98,869,167 (GRCm39)	missense	probably damaging	1.00
R1024:Fcho2	UTSW	13	98,869,167 (GRCm39)	missense	probably damaging	1.00
R1130:Fcho2	UTSW	13	98,884,797 (GRCm39)	missense	probably damaging	1.00
R1495:Fcho2	UTSW	13	98,886,358 (GRCm39)	critical splice donor site	probably null
R1593:Fcho2	UTSW	13	98,921,315 (GRCm39)	missense	possibly damaging	0.92
R1608:Fcho2	UTSW	13	98,862,706 (GRCm39)	missense	probably benign	0.01
R1638:Fcho2	UTSW	13	98,882,403 (GRCm39)	missense	possibly damaging	0.83
R1643:Fcho2	UTSW	13	98,921,324 (GRCm39)	missense	probably benign	0.00
R2125:Fcho2	UTSW	13	98,912,406 (GRCm39)	missense	possibly damaging	0.83
R3117:Fcho2	UTSW	13	98,913,946 (GRCm39)	missense	probably damaging	1.00
R3968:Fcho2	UTSW	13	98,871,564 (GRCm39)	missense	probably benign	0.06
R3970:Fcho2	UTSW	13	98,871,564 (GRCm39)	missense	probably benign	0.06
R4079:Fcho2	UTSW	13	98,892,120 (GRCm39)	missense	probably damaging	0.99
R4816:Fcho2	UTSW	13	98,942,874 (GRCm39)	missense	probably damaging	1.00
R5437:Fcho2	UTSW	13	98,913,982 (GRCm39)	missense	possibly damaging	0.95
R5457:Fcho2	UTSW	13	98,926,275 (GRCm39)	missense	probably damaging	0.99
R5733:Fcho2	UTSW	13	98,926,310 (GRCm39)	missense	probably damaging	0.99
R6136:Fcho2	UTSW	13	98,926,275 (GRCm39)	missense	probably damaging	0.99
R6186:Fcho2	UTSW	13	98,951,591 (GRCm39)	missense	probably benign	0.01
R6365:Fcho2	UTSW	13	98,926,367 (GRCm39)	missense	probably benign	0.20
R7041:Fcho2	UTSW	13	98,921,334 (GRCm39)	missense	possibly damaging	0.72
R7168:Fcho2	UTSW	13	98,925,971 (GRCm39)	missense	probably benign
R7218:Fcho2	UTSW	13	98,890,121 (GRCm39)	splice site	probably null
R7243:Fcho2	UTSW	13	98,891,724 (GRCm39)	missense	possibly damaging	0.94
R7533:Fcho2	UTSW	13	98,921,307 (GRCm39)	missense	probably benign	0.00
R7757:Fcho2	UTSW	13	98,901,011 (GRCm39)	critical splice donor site	probably null
R7904:Fcho2	UTSW	13	98,932,871 (GRCm39)	missense	possibly damaging	0.54
R7993:Fcho2	UTSW	13	98,888,524 (GRCm39)	splice site	probably null
R8004:Fcho2	UTSW	13	98,926,013 (GRCm39)	missense	possibly damaging	0.80
R8358:Fcho2	UTSW	13	98,862,282 (GRCm39)	nonsense	probably null
R8512:Fcho2	UTSW	13	98,891,730 (GRCm39)	missense	possibly damaging	0.69
R8692:Fcho2	UTSW	13	98,882,382 (GRCm39)	frame shift	probably null
R8792:Fcho2	UTSW	13	98,951,769 (GRCm39)	unclassified	probably benign
R8954:Fcho2	UTSW	13	98,913,985 (GRCm39)	missense	probably benign	0.05
R8969:Fcho2	UTSW	13	98,891,604 (GRCm39)	nonsense	probably null
R9091:Fcho2	UTSW	13	98,925,869 (GRCm39)	critical splice donor site	probably null
R9092:Fcho2	UTSW	13	98,886,391 (GRCm39)	missense	probably benign	0.01
R9171:Fcho2	UTSW	13	98,891,607 (GRCm39)	missense	probably benign
R9270:Fcho2	UTSW	13	98,925,869 (GRCm39)	critical splice donor site	probably null
R9668:Fcho2	UTSW	13	98,913,965 (GRCm39)	missense	probably benign	0.12
R9672:Fcho2	UTSW	13	98,869,178 (GRCm39)	nonsense	probably null
R9717:Fcho2	UTSW	13	98,900,202 (GRCm39)	missense	probably damaging	1.00
X0018:Fcho2	UTSW	13	98,868,590 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCTTAGAACTGTTGCAGC -3'
(R):5'- GTTTTCCTAGCAACAGTCGC -3'

Sequencing Primer
(F):5'- CTTAGAACTGTTGCAGCTGGAGAC -3'
(R):5'- CAGCTGTGATTGTGCAGATTCACAG -3'

Posted On

2016-08-04