Mutagenetix > Incidental Mutation

Incidental Mutation 'R7978:Ccdc90b'

651030

Institutional Source

Beutler Lab

Gene Symbol

Ccdc90b

Ensembl Gene

ENSMUSG00000030613

Gene Name

coiled-coil domain containing 90B

Synonyms

2310015N07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R7978 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92210357-92231502 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92216921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 64 (H64Q)

Ref Sequence

ENSEMBL: ENSMUSP00000032842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032842] [ENSMUST00000085017]

AlphaFold

Q8C3X2

Predicted Effect

probably damaging
Transcript: ENSMUST00000032842
AA Change: H64Q

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

SMART Domains

Protein: ENSMUSP00000032842
Gene: ENSMUSG00000030613
AA Change: H64Q

Domain	Start	End	E-Value	Type
Pfam:DUF1640	61	253	1.6e-62	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000085017
AA Change: H64Q

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

SMART Domains

Protein: ENSMUSP00000082090
Gene: ENSMUSG00000030613
AA Change: H64Q

Domain	Start	End	E-Value	Type
Pfam:DUF1640	60	109	1.6e-16	PFAM
Pfam:DUF1640	105	220	1.1e-39	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 77,036,515 (GRCm39)	I342N	probably damaging	Het
Alb	A	T	5: 90,619,932 (GRCm39)	N453I	possibly damaging	Het
Aox4	C	A	1: 58,274,366 (GRCm39)	S384Y	probably damaging	Het
Ap1g1	C	T	8: 110,564,399 (GRCm39)	R315*	probably null	Het
Cachd1	T	C	4: 100,832,060 (GRCm39)	Y741H	probably damaging	Het
Cacna2d2	C	G	9: 107,395,456 (GRCm39)	L661V	probably benign	Het
Ccdc93	C	A	1: 121,426,960 (GRCm39)	N582K	possibly damaging	Het
Cdh20	A	G	1: 109,921,835 (GRCm39)		probably benign	Het
Cnksr1	T	C	4: 133,963,342 (GRCm39)	N78D	probably damaging	Het
Cttnbp2nl	A	G	3: 104,915,307 (GRCm39)	V132A	probably damaging	Het
Cwc25	G	A	11: 97,644,044 (GRCm39)	Q230*	probably null	Het
Dsel	G	A	1: 111,787,449 (GRCm39)	R1029*	probably null	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,326,227 (GRCm39)		probably benign	Het
Fam120a	T	C	13: 49,055,750 (GRCm39)	Y646C	probably damaging	Het
Hltf	T	C	3: 20,146,968 (GRCm39)	W576R	probably damaging	Het
Hmcn2	A	G	2: 31,279,359 (GRCm39)	N1787S	probably benign	Het
Ift122	A	G	6: 115,897,313 (GRCm39)	E904G	probably benign	Het
Igkv17-121	C	T	6: 68,013,806 (GRCm39)	T2I	unknown	Het
Ino80	T	G	2: 119,269,874 (GRCm39)	R590S	possibly damaging	Het
Intu	T	A	3: 40,652,069 (GRCm39)	I842N	probably damaging	Het
Itgae	A	T	11: 73,024,913 (GRCm39)	T1015S	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kcna10	A	G	3: 107,101,663 (GRCm39)	E98G	probably damaging	Het
Kcnb2	T	A	1: 15,780,837 (GRCm39)	Y570N	probably benign	Het
Kmt2c	T	C	5: 25,564,676 (GRCm39)	I923V	probably benign	Het
Kptn	A	G	7: 15,859,697 (GRCm39)	D307G	probably damaging	Het
Myo3b	T	C	2: 70,083,458 (GRCm39)	Y704H	probably damaging	Het
Or12d13	A	G	17: 37,647,392 (GRCm39)	F244L	probably benign	Het
Or4c100	T	A	2: 88,356,014 (GRCm39)	L29*	probably null	Het
Or4c58	A	T	2: 89,674,611 (GRCm39)	C235*	probably null	Het
Or4f59	T	C	2: 111,872,523 (GRCm39)	T285A	possibly damaging	Het
Pmel	G	A	10: 128,551,819 (GRCm39)	V218M	probably damaging	Het
Prkar2b	T	C	12: 32,013,024 (GRCm39)	H364R	possibly damaging	Het
Psd4	T	C	2: 24,294,867 (GRCm39)	F809S	probably damaging	Het
Rabgap1l	A	G	1: 160,078,838 (GRCm39)	S59P		Het
Rgr	A	G	14: 36,766,645 (GRCm39)	F134L	probably benign	Het
Rspry1	G	T	8: 95,349,753 (GRCm39)	R47L	probably damaging	Het
Scd3	G	T	19: 44,222,688 (GRCm39)	E113*	probably null	Het
Slc22a12	G	A	19: 6,586,938 (GRCm39)	A476V	possibly damaging	Het
Smg1	T	C	7: 117,792,878 (GRCm39)	E560G	unknown	Het
Snx3	A	G	10: 42,378,346 (GRCm39)	D7G	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Tbc1d12	A	G	19: 38,905,285 (GRCm39)	M667V	probably benign	Het
Tbc1d30	A	T	10: 121,142,104 (GRCm39)	V81E	probably damaging	Het
Tbc1d9	A	T	8: 83,966,583 (GRCm39)	I395F	probably damaging	Het
Tes	C	A	6: 17,096,322 (GRCm39)	N103K	probably benign	Het
Tet2	T	C	3: 133,193,426 (GRCm39)	Y336C	possibly damaging	Het
Tgfbr3	T	C	5: 107,287,726 (GRCm39)	N491S	probably damaging	Het
Tomt	T	C	7: 101,549,554 (GRCm39)	I245V	probably damaging	Het
Trbc1	T	C	6: 41,515,236 (GRCm39)	L28P		Het
Trp63	T	C	16: 25,639,436 (GRCm39)	V208A	unknown	Het
Ttll8	G	T	15: 88,799,565 (GRCm39)	N625K	probably benign	Het
Ush2a	T	A	1: 188,132,135 (GRCm39)	W786R	probably benign	Het
Vmn2r97	A	T	17: 19,167,854 (GRCm39)	I703F	probably damaging	Het

Other mutations in Ccdc90b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02250:Ccdc90b	APN	7	92,223,823 (GRCm39)	splice site	probably benign
IGL02481:Ccdc90b	APN	7	92,223,854 (GRCm39)	missense	probably benign	0.01
R1540:Ccdc90b	UTSW	7	92,231,024 (GRCm39)	missense	probably benign	0.11
R2254:Ccdc90b	UTSW	7	92,221,776 (GRCm39)	missense	probably damaging	1.00
R5184:Ccdc90b	UTSW	7	92,224,019 (GRCm39)	missense	probably damaging	1.00
R6801:Ccdc90b	UTSW	7	92,216,943 (GRCm39)	missense	probably benign	0.00
R7242:Ccdc90b	UTSW	7	92,221,776 (GRCm39)	missense	probably damaging	1.00
R7604:Ccdc90b	UTSW	7	92,227,738 (GRCm39)	missense	probably damaging	1.00
R7644:Ccdc90b	UTSW	7	92,216,868 (GRCm39)	missense	possibly damaging	0.62
R8170:Ccdc90b	UTSW	7	92,210,750 (GRCm39)	missense	probably benign
R8504:Ccdc90b	UTSW	7	92,224,545 (GRCm39)	missense	probably benign	0.03
Z1177:Ccdc90b	UTSW	7	92,217,765 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- GGACACCTAATTGGGAAGCTAG -3'
(R):5'- CGAACTATTAGGTGTTCCCCTG -3'

Sequencing Primer
(F):5'- GACACCTAATTGGGAAGCTAGATTTG -3'
(R):5'- TTTCCATCCAGAATTTAGTATTAGCC -3'

Posted On

2020-09-15