Mutagenetix > Incidental Mutation

Incidental Mutation 'R7757:Fcho2'

597638

Institutional Source

Beutler Lab

Gene Symbol

Fcho2

Ensembl Gene

ENSMUSG00000041685

Gene Name

FCH domain only 2

Synonyms

MMRRC Submission

045813-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7757 (G1)

Quality Score

194.009

Status

Validated

Chromosome

Chromosomal Location

98723403-98815449 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 98764503 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000042959 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040340] [ENSMUST00000099277] [ENSMUST00000109403] [ENSMUST00000179563] [ENSMUST00000224992] [ENSMUST00000225840]

AlphaFold

Q3UQN2

Predicted Effect

probably null
Transcript: ENSMUST00000040340

SMART Domains

Protein: ENSMUSP00000042959
Gene: ENSMUSG00000041685

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

probably null
Transcript: ENSMUST00000109403

SMART Domains

Protein: ENSMUSP00000105030
Gene: ENSMUSG00000041685

Domain	Start	End	E-Value	Type
FCH	8	94	1.74e-19	SMART
low complexity region	341	351	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000179563

SMART Domains

Protein: ENSMUSP00000137422
Gene: ENSMUSG00000041685

Domain	Start	End	E-Value	Type
FCH	8	94	1.74e-19	SMART
low complexity region	341	351	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000224992

Predicted Effect

silent
Transcript: ENSMUST00000225840

Meta Mutation Damage Score

0.9489

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (70/73)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	T	15: 8,252,227 (GRCm38)	E2850V	unknown	Het
2700049A03Rik	G	A	12: 71,189,413 (GRCm38)	M1179I	probably benign	Het
6430550D23Rik	T	C	2: 156,003,431 (GRCm38)	T18A	possibly damaging	Het
Acox2	T	C	14: 8,230,166 (GRCm38)	N659S	probably damaging	Het
Agk	T	C	6: 40,376,278 (GRCm38)	V192A	possibly damaging	Het
Ap3b1	T	A	13: 94,528,158 (GRCm38)		probably null	Het
Bche	T	A	3: 73,701,121 (GRCm38)	D324V	probably damaging	Het
Bsn	A	G	9: 108,114,740 (GRCm38)	I1271T	possibly damaging	Het
Capn12	T	C	7: 28,882,821 (GRCm38)	L120P	probably damaging	Het
Cep290	T	A	10: 100,563,434 (GRCm38)	S2273T	probably benign	Het
Ckap4	T	C	10: 84,528,467 (GRCm38)	E244G	probably damaging	Het
Clcn7	T	C	17: 25,156,822 (GRCm38)	Y545H	probably damaging	Het
Cmya5	T	A	13: 93,098,272 (GRCm38)	T103S	possibly damaging	Het
Cpne9	G	A	6: 113,284,445 (GRCm38)	V121M	possibly damaging	Het
Csmd2	T	A	4: 128,483,456 (GRCm38)	I2043N		Het
Disc1	A	G	8: 125,087,504 (GRCm38)	T36A	probably benign	Het
Disp2	T	C	2: 118,790,910 (GRCm38)	Y708H	probably damaging	Het
Dnah3	A	G	7: 120,071,570 (GRCm38)	V635A	probably benign	Het
Dnah3	A	T	7: 119,971,215 (GRCm38)		probably null	Het
Dync1li1	A	G	9: 114,709,277 (GRCm38)	H234R	possibly damaging	Het
Egfr	T	C	11: 16,889,966 (GRCm38)	V660A	possibly damaging	Het
Epb42	T	C	2: 121,027,719 (GRCm38)	R253G	possibly damaging	Het
Fat2	T	A	11: 55,311,421 (GRCm38)	T276S	probably benign	Het
Ginm1	A	T	10: 7,779,355 (GRCm38)	I41N	probably damaging	Het
Gm4744	A	G	6: 40,950,433 (GRCm38)		probably benign	Het
Gm49368	C	T	7: 128,112,226 (GRCm38)	R701C	probably damaging	Het
Gpr37	T	A	6: 25,688,208 (GRCm38)	I297F	probably benign	Het
Gprc5a	T	A	6: 135,079,344 (GRCm38)	I263N	possibly damaging	Het
Gys2	A	T	6: 142,454,451 (GRCm38)	S345T	probably benign	Het
Hk2	T	C	6: 82,742,915 (GRCm38)	M255V	possibly damaging	Het
Ibtk	A	C	9: 85,697,237 (GRCm38)	S1202A	possibly damaging	Het
Il23r	T	G	6: 67,423,981 (GRCm38)	D455A	probably benign	Het
Irs2	T	A	8: 11,006,522 (GRCm38)	K637*	probably null	Het
Jak2	T	C	19: 29,283,546 (GRCm38)	V314A	probably benign	Het
Mei1	C	T	15: 82,082,623 (GRCm38)		probably benign	Het
Mill1	T	C	7: 18,262,466 (GRCm38)	M69T	probably benign	Het
Mms22l	T	C	4: 24,598,884 (GRCm38)		probably null	Het
Mup8	C	A	4: 60,220,332 (GRCm38)	Q133H	probably benign	Het
Mup8	T	A	4: 60,220,333 (GRCm38)	Q133L	probably benign	Het
Mycbp2	A	T	14: 103,191,619 (GRCm38)	Y2374N	probably damaging	Het
Nbeal1	A	T	1: 60,257,450 (GRCm38)	K1166N	probably damaging	Het
Nlrc4	T	A	17: 74,448,196 (GRCm38)	R8S	probably benign	Het
Nrcam	C	T	12: 44,549,898 (GRCm38)	Q25*	probably null	Het
Nudt16	A	C	9: 105,131,561 (GRCm38)	M47R	probably damaging	Het
Nup62	T	C	7: 44,828,995 (GRCm38)	S145P	probably benign	Het
Olfr1222	T	C	2: 89,124,989 (GRCm38)	I247M	possibly damaging	Het
Olfr959	A	G	9: 39,572,465 (GRCm38)	W265R	probably benign	Het
Osbpl1a	A	T	18: 12,933,600 (GRCm38)	V34D	probably benign	Het
Otogl	T	A	10: 107,876,921 (GRCm38)	N521Y	probably damaging	Het
Pcdhb14	T	A	18: 37,449,834 (GRCm38)	D664E	possibly damaging	Het
Pex5l	T	C	3: 33,082,151 (GRCm38)		probably benign	Het
Pkhd1	A	G	1: 20,562,415 (GRCm38)	L592P	probably damaging	Het
Plxdc2	A	G	2: 16,729,376 (GRCm38)	H480R	probably benign	Het
Rnf216	T	A	5: 143,080,236 (GRCm38)	K532N	probably damaging	Het
Schip1	C	A	3: 68,617,695 (GRCm38)	Q358K	probably damaging	Het
Sdc2	A	T	15: 33,028,087 (GRCm38)	E117V	possibly damaging	Het
Sept11	A	T	5: 93,171,464 (GRCm38)		probably null	Het
Shprh	A	T	10: 11,162,180 (GRCm38)	E420V	probably benign	Het
Ska1	T	A	18: 74,196,973 (GRCm38)	H232L	probably benign	Het
Slc36a4	A	G	9: 15,719,660 (GRCm38)	N25S	possibly damaging	Het
Slitrk3	G	A	3: 73,050,839 (GRCm38)	T200M	probably damaging	Het
Smad2	C	T	18: 76,288,013 (GRCm38)	H138Y	probably benign	Het
Snx21	T	C	2: 164,786,165 (GRCm38)	S34P	probably damaging	Het
Sos2	A	G	12: 69,648,585 (GRCm38)	V126A	probably damaging	Het
Srcap	C	T	7: 127,530,794 (GRCm38)	T596I	probably damaging	Het
Stk31	T	G	6: 49,406,943 (GRCm38)		probably null	Het
Stox1	T	C	10: 62,663,964 (GRCm38)	D939G	probably damaging	Het
Syne2	G	T	12: 76,061,779 (GRCm38)	C979F	possibly damaging	Het
Tanc2	C	A	11: 105,776,858 (GRCm38)	N88K	possibly damaging	Het
Tll2	A	T	19: 41,096,008 (GRCm38)	V677E	probably damaging	Het
Ttn	T	C	2: 76,918,490 (GRCm38)	T4072A	probably benign	Het
Unc13b	CAGAGC	CAGAGCGAGAGC	4: 43,177,341 (GRCm38)		probably benign	Het
Unc13b	AGAGCC	AGAGCCCGAGCC	4: 43,177,330 (GRCm38)		probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm38)		probably benign	Het
Vmn2r43	A	T	7: 8,255,254 (GRCm38)	F320Y	possibly damaging	Het
Zscan4f	G	T	7: 11,401,278 (GRCm38)	G204*	probably null	Het

Other mutations in Fcho2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01449:Fcho2	APN	13	98,789,807 (GRCm38)	missense	probably benign
IGL02058:Fcho2	APN	13	98,730,906 (GRCm38)	missense	probably damaging	0.98
IGL02516:Fcho2	APN	13	98,730,212 (GRCm38)	missense	probably benign	0.08
IGL02715:Fcho2	APN	13	98,796,335 (GRCm38)	missense	probably damaging	1.00
IGL03243:Fcho2	APN	13	98,777,384 (GRCm38)	splice site	probably benign
R0044:Fcho2	UTSW	13	98,755,544 (GRCm38)	intron	probably benign
R0087:Fcho2	UTSW	13	98,735,086 (GRCm38)	missense	probably benign	0.00
R0472:Fcho2	UTSW	13	98,748,267 (GRCm38)	missense	probably benign	0.01
R0501:Fcho2	UTSW	13	98,764,515 (GRCm38)	missense	possibly damaging	0.92
R1022:Fcho2	UTSW	13	98,732,659 (GRCm38)	missense	probably damaging	1.00
R1024:Fcho2	UTSW	13	98,732,659 (GRCm38)	missense	probably damaging	1.00
R1130:Fcho2	UTSW	13	98,748,289 (GRCm38)	missense	probably damaging	1.00
R1495:Fcho2	UTSW	13	98,749,850 (GRCm38)	critical splice donor site	probably null
R1593:Fcho2	UTSW	13	98,784,807 (GRCm38)	missense	possibly damaging	0.92
R1608:Fcho2	UTSW	13	98,726,198 (GRCm38)	missense	probably benign	0.01
R1638:Fcho2	UTSW	13	98,745,895 (GRCm38)	missense	possibly damaging	0.83
R1643:Fcho2	UTSW	13	98,784,816 (GRCm38)	missense	probably benign	0.00
R2125:Fcho2	UTSW	13	98,775,898 (GRCm38)	missense	possibly damaging	0.83
R3117:Fcho2	UTSW	13	98,777,438 (GRCm38)	missense	probably damaging	1.00
R3968:Fcho2	UTSW	13	98,735,056 (GRCm38)	missense	probably benign	0.06
R3970:Fcho2	UTSW	13	98,735,056 (GRCm38)	missense	probably benign	0.06
R4079:Fcho2	UTSW	13	98,755,612 (GRCm38)	missense	probably damaging	0.99
R4816:Fcho2	UTSW	13	98,806,366 (GRCm38)	missense	probably damaging	1.00
R5338:Fcho2	UTSW	13	98,730,891 (GRCm38)	missense	probably damaging	1.00
R5437:Fcho2	UTSW	13	98,777,474 (GRCm38)	missense	possibly damaging	0.95
R5457:Fcho2	UTSW	13	98,789,767 (GRCm38)	missense	probably damaging	0.99
R5733:Fcho2	UTSW	13	98,789,802 (GRCm38)	missense	probably damaging	0.99
R6136:Fcho2	UTSW	13	98,789,767 (GRCm38)	missense	probably damaging	0.99
R6186:Fcho2	UTSW	13	98,815,083 (GRCm38)	missense	probably benign	0.01
R6365:Fcho2	UTSW	13	98,789,859 (GRCm38)	missense	probably benign	0.20
R7041:Fcho2	UTSW	13	98,784,826 (GRCm38)	missense	possibly damaging	0.72
R7168:Fcho2	UTSW	13	98,789,463 (GRCm38)	missense	probably benign
R7218:Fcho2	UTSW	13	98,753,613 (GRCm38)	splice site	probably null
R7243:Fcho2	UTSW	13	98,755,216 (GRCm38)	missense	possibly damaging	0.94
R7533:Fcho2	UTSW	13	98,784,799 (GRCm38)	missense	probably benign	0.00
R7904:Fcho2	UTSW	13	98,796,363 (GRCm38)	missense	possibly damaging	0.54
R7993:Fcho2	UTSW	13	98,752,016 (GRCm38)	splice site	probably null
R8004:Fcho2	UTSW	13	98,789,505 (GRCm38)	missense	possibly damaging	0.80
R8358:Fcho2	UTSW	13	98,725,774 (GRCm38)	nonsense	probably null
R8512:Fcho2	UTSW	13	98,755,222 (GRCm38)	missense	possibly damaging	0.69
R8692:Fcho2	UTSW	13	98,745,874 (GRCm38)	frame shift	probably null
R8792:Fcho2	UTSW	13	98,815,261 (GRCm38)	unclassified	probably benign
R8954:Fcho2	UTSW	13	98,777,477 (GRCm38)	missense	probably benign	0.05
R8969:Fcho2	UTSW	13	98,755,096 (GRCm38)	nonsense	probably null
R9091:Fcho2	UTSW	13	98,789,361 (GRCm38)	critical splice donor site	probably null
R9092:Fcho2	UTSW	13	98,749,883 (GRCm38)	missense	probably benign	0.01
R9171:Fcho2	UTSW	13	98,755,099 (GRCm38)	missense	probably benign
R9270:Fcho2	UTSW	13	98,789,361 (GRCm38)	critical splice donor site	probably null
R9668:Fcho2	UTSW	13	98,777,457 (GRCm38)	missense	probably benign	0.12
R9672:Fcho2	UTSW	13	98,732,670 (GRCm38)	nonsense	probably null
R9717:Fcho2	UTSW	13	98,763,694 (GRCm38)	missense	probably damaging	1.00
X0018:Fcho2	UTSW	13	98,732,082 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAAGCCTACAACTTAAATCAGTC -3'
(R):5'- CTTTACTCATACATCACACAGACATGG -3'

Sequencing Primer
(F):5'- GCCTACAACTTAAATCAGTCTGTTTC -3'
(R):5'- AGTTAGAACAGTTTATCTGGT -3'

Posted On

2019-11-26