Mutagenetix > Incidental Mutation

Incidental Mutation 'R9550:Cby2'

720451

Institutional Source

Beutler Lab

Gene Symbol

Cby2

Ensembl Gene

ENSMUSG00000034913

Gene Name

chibby family member 2

Synonyms

Spert, Nurit, 1700086N05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R9550 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75820317-75830556 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75820603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 374 (V374A)

Ref Sequence

ENSEMBL: ENSMUSP00000046259 (fasta)

Gene Model

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

AlphaFold

Q32MG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000035243
AA Change: V374A

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

SMART Domains

Protein: ENSMUSP00000046259
Gene: ENSMUSG00000034913
AA Change: V374A

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 damaging
Transcript: ENSMUST00000164082
AA Change: V410A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127439
Gene: ENSMUSG00000034913
AA Change: V410A

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 damaging
Transcript: ENSMUST00000165569
AA Change: V332A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131347
Gene: ENSMUSG00000034913
AA Change: V332A

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 damaging
Transcript: ENSMUST00000169658
AA Change: V383A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129616
Gene: ENSMUSG00000034913
AA Change: V383A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	G	8: 44,022,120 (GRCm39)	C457R	probably damaging	Het
Adamts9	A	T	6: 92,878,429 (GRCm39)	V546E	probably benign	Het
Add3	G	A	19: 53,233,521 (GRCm39)	E641K	possibly damaging	Het
Anks1b	T	A	10: 90,412,360 (GRCm39)	M1K	probably null	Het
C1s2	G	A	6: 124,605,253 (GRCm39)	Q361*	probably null	Het
Casp4	T	C	9: 5,328,465 (GRCm39)	S316P	probably damaging	Het
Cdyl	A	G	13: 36,000,147 (GRCm39)	T143A	probably benign	Het
Cep85	T	C	4: 133,858,598 (GRCm39)	T760A	probably damaging	Het
Chd2	A	G	7: 73,119,439 (GRCm39)	L1035P	probably damaging	Het
Cpne8	T	C	15: 90,453,760 (GRCm39)	I208V	probably benign	Het
Cux1	A	G	5: 136,340,387 (GRCm39)	L641P	probably damaging	Het
Dlgap1	T	A	17: 71,093,902 (GRCm39)	M741K	possibly damaging	Het
Dnajc16	T	C	4: 141,495,058 (GRCm39)	Y518C	possibly damaging	Het
Dtnb	A	G	12: 3,768,437 (GRCm39)	N343D	possibly damaging	Het
Dusp3	A	T	11: 101,872,668 (GRCm39)	S43T	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Espn	C	T	4: 152,215,534 (GRCm39)	R575H	probably damaging	Het
Gls	A	T	1: 52,251,373 (GRCm39)	L328*	probably null	Het
H2-T23	T	C	17: 36,342,712 (GRCm39)	D142G	probably damaging	Het
Hck	A	G	2: 152,976,651 (GRCm39)	M262V	probably benign	Het
Igkv14-126	G	T	6: 67,873,199 (GRCm39)	L13F	possibly damaging	Het
Muc2	C	T	7: 141,308,242 (GRCm39)	R913C	probably damaging	Het
Mypop	A	T	7: 18,726,245 (GRCm39)	T71S	probably damaging	Het
Nadsyn1	A	G	7: 143,353,615 (GRCm39)	I536T	probably damaging	Het
Obsl1	T	C	1: 75,474,910 (GRCm39)	E830G	possibly damaging	Het
Or1q1	T	A	2: 36,887,137 (GRCm39)	I105N	probably damaging	Het
Or8d2b	T	C	9: 38,788,937 (GRCm39)	V155A	probably benign	Het
Pcdha8	A	T	18: 37,127,399 (GRCm39)	Y627F	possibly damaging	Het
Polr1b	T	A	2: 128,962,205 (GRCm39)	S742R	unknown	Het
Ppm1e	A	T	11: 87,121,919 (GRCm39)	N679K	probably benign	Het
Raly	AGCAGCAGTGGTGGAGGAGGAGGCAGCAGTGGTGGAGG	AGCAGCAGTGGTGGAGG	2: 154,705,754 (GRCm39)		probably benign	Het
Rgs12	G	T	5: 35,196,665 (GRCm39)	G1430C	probably damaging	Het
Rhcg	T	C	7: 79,248,296 (GRCm39)	Y436C	probably damaging	Het
Ripor3	T	C	2: 167,822,807 (GRCm39)	D918G	probably benign	Het
Rlf	A	G	4: 121,003,620 (GRCm39)	F1897L	probably damaging	Het
Sin3a	T	C	9: 56,996,768 (GRCm39)	V99A	probably benign	Het
Slc22a29	A	T	19: 8,195,224 (GRCm39)	L137*	probably null	Het
Sufu	A	G	19: 46,385,675 (GRCm39)	Y45C	probably damaging	Het
Thsd1	C	T	8: 22,733,026 (GRCm39)		probably benign	Het
Tiam2	T	A	17: 3,559,706 (GRCm39)	L1249Q	probably damaging	Het
Toe1	C	T	4: 116,661,916 (GRCm39)	V418M	probably benign	Het
Trappc12	T	C	12: 28,761,985 (GRCm39)		probably null	Het
Triobp	A	G	15: 78,858,077 (GRCm39)	D1226G	probably damaging	Het
Zfhx4	T	C	3: 5,464,572 (GRCm39)	S1602P	probably damaging	Het
Zfp266	T	C	9: 20,410,482 (GRCm39)	K565R	probably damaging	Het
Zfp319	T	C	8: 96,055,025 (GRCm39)	T393A	probably benign	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
R6915:Cby2	UTSW	14	75,830,098 (GRCm39)	missense	probably benign	0.37
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
X0023:Cby2	UTSW	14	75,820,574 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTTCTGGGCAGAGTAAGG -3'
(R):5'- TAGGCCCTAACCTACCTGAC -3'

Sequencing Primer
(F):5'- CTTCTGGGCAGAGTAAGGAAGAC -3'
(R):5'- TGACAGCGCTCAACCCCTG -3'

Posted On

2022-08-09