Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02552:Cbx6'

298149

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cbx6

Ensembl Gene

ENSMUSG00000089715

Gene Name

chromobox 6

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02552

Quality Score

Status

Chromosome

Chromosomal Location

79708099-79718534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79713094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 111 (H111R)

Ref Sequence

ENSEMBL: ENSMUSP00000105255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023060] [ENSMUST00000089299] [ENSMUST00000109623] [ENSMUST00000109625] [ENSMUST00000109627] [ENSMUST00000148358]

AlphaFold

Q9DBY5

Predicted Effect

probably benign
Transcript: ENSMUST00000023060

SMART Domains

Protein: ENSMUSP00000023060
Gene: ENSMUSG00000089837

Domain	Start	End	E-Value	Type
CHROMO	10	62	1.46e-18	SMART
PTX	160	366	2.17e-97	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000089299
AA Change: H111R

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000086714
Gene: ENSMUSG00000089837
AA Change: H111R

Domain	Start	End	E-Value	Type
CHROMO	10	62	1.46e-18	SMART
low complexity region	98	115	N/A	INTRINSIC
PTX	257	463	2.17e-97	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109623
AA Change: H111R

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105252
Gene: ENSMUSG00000089715
AA Change: H111R

Domain	Start	End	E-Value	Type
CHROMO	10	62	1.46e-18	SMART
low complexity region	98	115	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109625
AA Change: H93R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105253
Gene: ENSMUSG00000089715
AA Change: H93R

Domain	Start	End	E-Value	Type
CHROMO	10	62	1.46e-18	SMART
low complexity region	80	97	N/A	INTRINSIC
low complexity region	166	178	N/A	INTRINSIC
low complexity region	219	226	N/A	INTRINSIC
low complexity region	238	250	N/A	INTRINSIC
low complexity region	255	269	N/A	INTRINSIC
low complexity region	378	393	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109627
AA Change: H111R

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

SMART Domains

Protein: ENSMUSP00000105255
Gene: ENSMUSG00000089715
AA Change: H111R

Domain	Start	End	E-Value	Type
CHROMO	10	62	1.46e-18	SMART
low complexity region	98	115	N/A	INTRINSIC
low complexity region	184	196	N/A	INTRINSIC
low complexity region	237	244	N/A	INTRINSIC
low complexity region	256	268	N/A	INTRINSIC
low complexity region	273	287	N/A	INTRINSIC
low complexity region	396	411	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127721

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129614

Predicted Effect

unknown
Transcript: ENSMUST00000148358
AA Change: T89A

SMART Domains

Protein: ENSMUSP00000119037
Gene: ENSMUSG00000089715
AA Change: T89A

Domain	Start	End	E-Value	Type
CHROMO	10	62	4.73e-18	SMART
low complexity region	75	87	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141345

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230681

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,208,145 (GRCm39)	L178S	probably damaging	Het
Abca12	A	G	1: 71,333,906 (GRCm39)	Y1199H	probably damaging	Het
Abcc9	T	C	6: 142,551,645 (GRCm39)	D1221G	possibly damaging	Het
Apc	T	A	18: 34,446,035 (GRCm39)	M977K	possibly damaging	Het
Arhgap30	T	A	1: 171,235,324 (GRCm39)	L566Q	probably damaging	Het
Arhgap40	T	A	2: 158,388,721 (GRCm39)	W552R	probably benign	Het
Astn1	C	T	1: 158,332,965 (GRCm39)	S349F	possibly damaging	Het
Bard1	T	C	1: 71,104,815 (GRCm39)		probably benign	Het
Batf2	T	A	19: 6,221,537 (GRCm39)	Y116N	probably benign	Het
Bltp3b	T	A	10: 89,642,605 (GRCm39)	L10*	probably null	Het
Cd44	T	A	2: 102,679,076 (GRCm39)	N242I	probably benign	Het
Cdnf	C	T	2: 3,525,012 (GRCm39)	Q184*	probably null	Het
Chd2	C	A	7: 73,097,068 (GRCm39)		probably benign	Het
Cmtm6	G	A	9: 114,566,374 (GRCm39)	V88M	probably damaging	Het
Col24a1	C	A	3: 145,179,962 (GRCm39)	S1151R	possibly damaging	Het
Csta2	A	G	16: 36,073,459 (GRCm39)	E15G	probably damaging	Het
Degs1l	T	A	1: 180,882,463 (GRCm39)	V75E	possibly damaging	Het
Dnajc2	T	C	5: 21,988,061 (GRCm39)	D6G	probably damaging	Het
Eif3a	G	A	19: 60,751,664 (GRCm39)		probably benign	Het
Fbn1	C	A	2: 125,254,633 (GRCm39)	C210F	possibly damaging	Het
Fmn2	T	A	1: 174,523,286 (GRCm39)	D1380E	probably damaging	Het
Fry	A	T	5: 150,304,375 (GRCm39)	K588N	probably damaging	Het
Gm18856	G	A	13: 14,139,805 (GRCm39)		probably benign	Het
Gpr37	G	T	6: 25,688,686 (GRCm39)	T137K	probably benign	Het
Gzmc	T	C	14: 56,472,039 (GRCm39)	M1V	probably null	Het
Htr5a	T	C	5: 28,047,958 (GRCm39)	V171A	probably benign	Het
Ints6l	T	C	X: 55,500,557 (GRCm39)		probably benign	Het
Kcnma1	C	T	14: 23,436,327 (GRCm39)		probably null	Het
Krt35	C	T	11: 99,983,899 (GRCm39)	G367D	probably benign	Het
Nlrp1b	C	T	11: 71,063,057 (GRCm39)	V668I	possibly damaging	Het
Nlrp1b	C	T	11: 71,072,878 (GRCm39)	V322I	possibly damaging	Het
Ntf3	T	C	6: 126,078,823 (GRCm39)	N228D	probably damaging	Het
Nup133	G	A	8: 124,655,994 (GRCm39)	R496W	possibly damaging	Het
Or4c10	T	C	2: 89,760,903 (GRCm39)	V250A	probably benign	Het
Or51i1	C	A	7: 103,671,463 (GRCm39)	G21W	probably damaging	Het
Pah	C	T	10: 87,414,707 (GRCm39)		probably benign	Het
Pan2	G	T	10: 128,154,896 (GRCm39)	W1112L	probably damaging	Het
Pkn3	G	A	2: 29,970,879 (GRCm39)	R209Q	probably damaging	Het
Plaa	C	T	4: 94,470,717 (GRCm39)		probably null	Het
Qprt	C	T	7: 126,708,027 (GRCm39)	A135T	probably damaging	Het
Rbbp6	T	G	7: 122,582,204 (GRCm39)	S108A	probably damaging	Het
Smg1	T	A	7: 117,795,117 (GRCm39)		probably benign	Het
Spink5	T	A	18: 44,125,235 (GRCm39)	C368S	possibly damaging	Het
Sptan1	T	A	2: 29,908,486 (GRCm39)	I1734N	probably damaging	Het
Stk38l	C	T	6: 146,669,031 (GRCm39)	L170F	probably damaging	Het
Tesmin	C	T	19: 3,452,483 (GRCm39)		probably benign	Het
Tjp1	A	T	7: 64,949,530 (GRCm39)	C1697*	probably null	Het
Tmco4	T	C	4: 138,785,690 (GRCm39)	S587P	probably benign	Het
Tmem208	G	A	8: 106,055,329 (GRCm39)		probably null	Het
Trim30d	T	C	7: 104,121,623 (GRCm39)	Q224R	probably damaging	Het
Trpm7	T	A	2: 126,682,699 (GRCm39)	D390V	probably damaging	Het
Uba7	A	G	9: 107,858,589 (GRCm39)	I807V	probably benign	Het
Utp18	C	A	11: 93,759,160 (GRCm39)	C438F	probably damaging	Het
Vps13d	T	C	4: 144,899,707 (GRCm39)	K191E	possibly damaging	Het
Wdr27	A	G	17: 15,146,453 (GRCm39)	S181P	probably damaging	Het
Zfp462	T	C	4: 55,010,613 (GRCm39)	Y860H	probably damaging	Het

Other mutations in Cbx6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Cbx6	APN	15	79,713,130 (GRCm39)	missense	possibly damaging	0.86
IGL02376:Cbx6	APN	15	79,712,500 (GRCm39)	missense	probably benign	0.43
R0506:Cbx6	UTSW	15	79,712,404 (GRCm39)	missense	probably benign
R2184:Cbx6	UTSW	15	79,712,762 (GRCm39)	missense	probably benign	0.25
R4764:Cbx6	UTSW	15	79,712,881 (GRCm39)	missense	probably damaging	1.00
R7133:Cbx6	UTSW	15	79,712,866 (GRCm39)	missense	possibly damaging	0.85
R9378:Cbx6	UTSW	15	79,712,606 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16