Mutagenetix > Incidental Mutation

Incidental Mutation 'R6915:Cby2'

539304

Institutional Source

Beutler Lab

Gene Symbol

Cby2

Ensembl Gene

ENSMUSG00000034913

Gene Name

chibby family member 2

Synonyms

Spert, Nurit, 1700086N05Rik

MMRRC Submission

045036-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R6915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75820317-75830556 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75830098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 32 (T32S)

Ref Sequence

ENSEMBL: ENSMUSP00000127439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035243] [ENSMUST00000164082] [ENSMUST00000165569] [ENSMUST00000169658]

AlphaFold

Q32MG2

Predicted Effect

probably benign
Transcript: ENSMUST00000035243

SMART Domains

Protein: ENSMUSP00000046259
Gene: ENSMUSG00000034913

Domain	Start	End	E-Value	Type
Pfam:Chibby	40	176	1e-13	PFAM
coiled coil region	200	228	N/A	INTRINSIC
coiled coil region	317	361	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164082
AA Change: T32S

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000127439
Gene: ENSMUSG00000034913
AA Change: T32S

Domain	Start	End	E-Value	Type
Pfam:Chibby	77	200	4.9e-15	PFAM
coiled coil region	236	264	N/A	INTRINSIC
coiled coil region	353	397	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165569

SMART Domains

Protein: ENSMUSP00000131347
Gene: ENSMUSG00000034913

Domain	Start	End	E-Value	Type
Pfam:Chibby	1	135	2.1e-13	PFAM
coiled coil region	158	186	N/A	INTRINSIC
coiled coil region	275	319	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169658

SMART Domains

Protein: ENSMUSP00000129616
Gene: ENSMUSG00000034913

Domain	Start	End	E-Value	Type
Pfam:Chibby	49	185	2.4e-14	PFAM
coiled coil region	209	237	N/A	INTRINSIC
coiled coil region	326	370	N/A	INTRINSIC

Meta Mutation Damage Score

0.0702

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	C	A	12: 88,422,390 (GRCm39)	L334I	probably damaging	Het
Akap9	T	A	5: 4,010,551 (GRCm39)	M436K	probably benign	Het
Ankmy1	A	C	1: 92,816,173 (GRCm39)	F314V	probably null	Het
Arid5b	G	A	10: 68,022,042 (GRCm39)	Q183*	probably null	Het
Atp8b4	A	T	2: 126,200,834 (GRCm39)	L778*	probably null	Het
BC024139	G	T	15: 76,004,221 (GRCm39)	N739K	probably benign	Het
Carns1	T	G	19: 4,219,912 (GRCm39)	H441P	probably benign	Het
Ccdc121rt3	A	T	5: 112,502,523 (GRCm39)	W394R	probably damaging	Het
Cfap70	T	A	14: 20,459,153 (GRCm39)	I693F	probably benign	Het
Cldn3	A	G	5: 135,015,426 (GRCm39)	Q43R	probably damaging	Het
Col7a1	C	T	9: 108,796,686 (GRCm39)	P1608L	probably benign	Het
Cr2	T	A	1: 194,853,454 (GRCm39)	Y28F	probably benign	Het
Cyp2c38	T	A	19: 39,424,512 (GRCm39)	I269F	probably damaging	Het
Dapk1	A	T	13: 60,844,256 (GRCm39)	I92F	probably damaging	Het
Dennd4a	T	A	9: 64,759,771 (GRCm39)	L292*	probably null	Het
Dhx38	T	C	8: 110,286,231 (GRCm39)	E353G	probably benign	Het
Dnm3	T	C	1: 162,145,966 (GRCm39)		probably null	Het
Dzip3	T	C	16: 48,762,488 (GRCm39)	I794V	possibly damaging	Het
Eif2b5	T	A	16: 20,321,500 (GRCm39)	V351D	possibly damaging	Het
Epg5	T	A	18: 78,022,380 (GRCm39)	V1041E	probably benign	Het
Exoc4	A	G	6: 33,898,388 (GRCm39)	K869R	possibly damaging	Het
Fat3	C	A	9: 16,289,044 (GRCm39)	V160F	probably benign	Het
Gak	A	T	5: 108,750,816 (GRCm39)	Y365N	probably benign	Het
Ghrhr	T	A	6: 55,360,104 (GRCm39)		probably null	Het
Gm21738	A	G	14: 19,415,933 (GRCm38)	M202T	probably benign	Het
Havcr2	C	T	11: 46,366,738 (GRCm39)	S177L	probably benign	Het
Hkdc1	G	C	10: 62,237,711 (GRCm39)	R353G	possibly damaging	Het
Ifi208	G	A	1: 173,510,444 (GRCm39)	G200S	probably damaging	Het
Klhl20	T	C	1: 160,921,266 (GRCm39)	D63G	possibly damaging	Het
Lair1	A	T	7: 4,058,952 (GRCm39)	V12E	possibly damaging	Het
Lipo3	T	C	19: 33,562,293 (GRCm39)	N26D	probably damaging	Het
Lyst	T	A	13: 13,900,629 (GRCm39)	D3168E	probably benign	Het
Map6	G	A	7: 98,917,454 (GRCm39)	A76T	probably damaging	Het
Mcoln3	A	T	3: 145,843,011 (GRCm39)		probably null	Het
Muc4	T	C	16: 32,587,312 (GRCm39)	F2718L	probably benign	Het
Nek11	C	G	9: 105,270,256 (GRCm39)		probably benign	Het
Or10n7-ps1	T	C	9: 39,597,832 (GRCm39)	E136G	unknown	Het
Or2z8	C	A	8: 72,811,574 (GRCm39)	L17I	probably benign	Het
Or4d6	A	G	19: 12,086,490 (GRCm39)	V140A	probably benign	Het
Pcdh15	A	T	10: 74,479,641 (GRCm39)	E846V	probably benign	Het
Pcdhga8	C	T	18: 37,858,998 (GRCm39)	T18M	probably benign	Het
Per3	T	C	4: 151,128,106 (GRCm39)	M61V	possibly damaging	Het
Pfas	C	T	11: 68,883,007 (GRCm39)	R759Q	probably benign	Het
Pitpnm1	A	G	19: 4,156,947 (GRCm39)	Y490C	possibly damaging	Het
Plcb4	A	T	2: 135,789,035 (GRCm39)	I272F	possibly damaging	Het
Ppp1r3b	A	G	8: 35,851,821 (GRCm39)	Y220C	probably damaging	Het
Prkce	G	C	17: 86,800,835 (GRCm39)	G417A	probably damaging	Het
Ptar1	A	G	19: 23,680,501 (GRCm39)	N106D	probably damaging	Het
Rbm15	C	A	3: 107,239,627 (GRCm39)	R257L	probably benign	Het
Rptor	T	G	11: 119,647,171 (GRCm39)	M254R	probably damaging	Het
Runx1t1	T	A	4: 13,865,257 (GRCm39)	W350R	probably damaging	Het
Ryr2	T	G	13: 11,760,487 (GRCm39)	Y1532S	probably damaging	Het
Serpina1a	C	A	12: 103,820,110 (GRCm39)	V379L	possibly damaging	Het
Sox8	C	T	17: 25,786,888 (GRCm39)	V272I	probably damaging	Het
Stard9	C	T	2: 120,533,111 (GRCm39)	H3123Y	probably benign	Het
Taar9	C	T	10: 23,984,910 (GRCm39)	E175K	possibly damaging	Het
Tinag	T	A	9: 76,908,897 (GRCm39)	Y348F	probably damaging	Het
Tktl2	T	C	8: 66,965,687 (GRCm39)	I415T	probably damaging	Het
Tm7sf2	G	T	19: 6,118,342 (GRCm39)	R718S	probably damaging	Het
Tmem229a	G	T	6: 24,954,657 (GRCm39)	Q366K	probably benign	Het
Txndc2	T	C	17: 65,945,286 (GRCm39)	D297G	probably benign	Het
Ulk4	A	G	9: 121,087,886 (GRCm39)	F269L	probably benign	Het
Vps39	A	T	2: 120,151,512 (GRCm39)	Y738*	probably null	Het

Other mutations in Cby2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Cby2	APN	14	75,830,085 (GRCm39)	missense	possibly damaging	0.69
IGL01556:Cby2	APN	14	75,821,551 (GRCm39)	missense	probably damaging	1.00
IGL02653:Cby2	APN	14	75,820,597 (GRCm39)	missense	probably damaging	1.00
IGL03366:Cby2	APN	14	75,820,829 (GRCm39)	missense	probably benign	0.01
R0071:Cby2	UTSW	14	75,821,621 (GRCm39)	missense	probably benign	0.00
R1645:Cby2	UTSW	14	75,821,089 (GRCm39)	missense	probably benign	0.12
R1738:Cby2	UTSW	14	75,830,497 (GRCm39)	start codon destroyed	probably null	0.98
R1844:Cby2	UTSW	14	75,820,850 (GRCm39)	missense	probably benign	0.12
R4773:Cby2	UTSW	14	75,820,546 (GRCm39)	missense	probably damaging	1.00
R4857:Cby2	UTSW	14	75,830,478 (GRCm39)	missense	probably damaging	1.00
R5201:Cby2	UTSW	14	75,821,449 (GRCm39)	missense	probably damaging	1.00
R5274:Cby2	UTSW	14	75,820,666 (GRCm39)	missense	probably benign	0.00
R5880:Cby2	UTSW	14	75,821,243 (GRCm39)	missense	probably benign	0.02
R7399:Cby2	UTSW	14	75,830,077 (GRCm39)	missense	probably benign	0.00
R8054:Cby2	UTSW	14	75,821,339 (GRCm39)	missense	probably benign	0.00
R8062:Cby2	UTSW	14	75,830,046 (GRCm39)	missense	probably benign	0.13
R8172:Cby2	UTSW	14	75,829,241 (GRCm39)	splice site	probably null
R8998:Cby2	UTSW	14	75,820,654 (GRCm39)	missense	probably damaging	1.00
R9348:Cby2	UTSW	14	75,820,838 (GRCm39)	missense	probably damaging	0.99
R9550:Cby2	UTSW	14	75,820,603 (GRCm39)	missense	probably damaging	1.00
X0023:Cby2	UTSW	14	75,820,574 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCCAGAGAGACCATGTATCC -3'
(R):5'- AAGATTTCTTTCTGGTCAGGTACC -3'

Sequencing Primer
(F):5'- AGAGAGACCATGTATCCTTCCTC -3'
(R):5'- CATTCACACACACCTTTACATGGAG -3'

Posted On

2018-11-06