Mutagenetix > Incidental Mutation

Incidental Mutation 'R7946:Ccdc9b'

649333

Institutional Source

Beutler Lab

Gene Symbol

Ccdc9b

Ensembl Gene

ENSMUSG00000045838

Gene Name

coiled-coil domain containing 9B

Synonyms

A430105I19Rik

MMRRC Submission

045991-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7946 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118584639-118593142 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 118590146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 233 (P233T)

Ref Sequence

ENSEMBL: ENSMUSP00000051853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059997]

AlphaFold

A3KGF9

Predicted Effect

probably benign
Transcript: ENSMUST00000059997
AA Change: P233T

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000051853
Gene: ENSMUSG00000045838
AA Change: P233T

Domain	Start	End	E-Value	Type
coiled coil region	52	100	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
Pfam:DUF4594	185	361	1.2e-64	PFAM
low complexity region	515	529	N/A	INTRINSIC
low complexity region	535	544	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,126,398 (GRCm39)	T1186A	probably benign	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Afap1	A	G	5: 36,092,995 (GRCm39)	N33S	probably benign	Het
Afap1	G	A	5: 36,141,396 (GRCm39)		probably null	Het
Ampd3	A	G	7: 110,377,147 (GRCm39)	D46G	probably damaging	Het
Anks4b	A	G	7: 119,781,707 (GRCm39)	K246R	probably benign	Het
Aqp9	C	T	9: 71,030,290 (GRCm39)	V192M	probably damaging	Het
Aspscr1	T	G	11: 120,599,443 (GRCm39)	S132A		Het
Atp2b4	C	A	1: 133,658,320 (GRCm39)	R530L	probably damaging	Het
Bahcc1	T	C	11: 120,163,325 (GRCm39)	V541A	probably benign	Het
Caprin1	A	T	2: 103,603,093 (GRCm39)	V490E	probably damaging	Het
Ccdc7a	T	A	8: 129,643,627 (GRCm39)	K734M	probably damaging	Het
Cdc16	A	G	8: 13,812,882 (GRCm39)	K138R	probably benign	Het
Cela2a	A	G	4: 141,549,617 (GRCm39)	S53P	possibly damaging	Het
Clca3a2	A	G	3: 144,513,075 (GRCm39)		probably null	Het
Cntrob	T	C	11: 69,206,047 (GRCm39)	E373G	possibly damaging	Het
Csmd2	T	C	4: 128,414,058 (GRCm39)	Y2633H		Het
Ctbp1	A	T	5: 33,407,688 (GRCm39)	M296K	probably benign	Het
Dido1	G	T	2: 180,303,501 (GRCm39)	Q1468K	possibly damaging	Het
Dnah7b	T	C	1: 46,272,739 (GRCm39)	F2289S	probably damaging	Het
Fndc7	T	A	3: 108,779,452 (GRCm39)	D364V	possibly damaging	Het
Ggt7	G	T	2: 155,347,892 (GRCm39)	H180Q	probably damaging	Het
Gm14399	A	T	2: 174,973,273 (GRCm39)	C161S	probably damaging	Het
Gm17324	T	C	9: 78,355,794 (GRCm39)	T62A	unknown	Het
Gpr107	A	G	2: 31,078,716 (GRCm39)	I384V	probably damaging	Het
Igsf10	C	A	3: 59,227,125 (GRCm39)	V2183L	possibly damaging	Het
Il23r	T	A	6: 67,411,648 (GRCm39)	H363L	possibly damaging	Het
Inka2	T	A	3: 105,623,761 (GRCm39)	L45H	probably damaging	Het
Iqsec1	A	T	6: 90,667,252 (GRCm39)	I291N	probably damaging	Het
Kcnc3	A	T	7: 44,245,569 (GRCm39)	T620S	probably benign	Het
Kif2b	T	C	11: 91,466,571 (GRCm39)	N571D	probably benign	Het
Klrb1c	T	A	6: 128,766,072 (GRCm39)		probably benign	Het
Mgst2	A	G	3: 51,584,991 (GRCm39)	N55S	probably damaging	Het
Neb	T	C	2: 52,102,746 (GRCm39)	D4509G	probably damaging	Het
Obox1	G	T	7: 15,289,456 (GRCm39)	V82F	probably benign	Het
Or4k51	A	T	2: 111,585,163 (GRCm39)	M190L	probably benign	Het
Or5p59	A	G	7: 107,703,053 (GRCm39)	D179G	probably benign	Het
Or7e174	T	C	9: 20,012,780 (GRCm39)	S242P	probably damaging	Het
Pakap	A	T	4: 57,710,045 (GRCm39)	N330I	probably damaging	Het
Phf21a	A	T	2: 92,189,512 (GRCm39)	E590D	probably damaging	Het
Rai14	T	C	15: 10,574,287 (GRCm39)		probably null	Het
Rfx7	T	C	9: 72,524,096 (GRCm39)	Y429H	probably damaging	Het
Spata31d1d	G	T	13: 59,878,606 (GRCm39)	A77E	probably benign	Het
Stra8	A	G	6: 34,907,816 (GRCm39)		probably null	Het
Syne1	A	G	10: 5,200,919 (GRCm39)	S3550P	possibly damaging	Het
Tars2	A	T	3: 95,657,693 (GRCm39)	H249Q	probably damaging	Het
Tomm5	T	C	4: 45,107,969 (GRCm39)	E22G	probably benign	Het
Tor1a	A	G	2: 30,853,704 (GRCm39)		probably null	Het
Trim43b	A	G	9: 88,973,538 (GRCm39)	I65T	probably damaging	Het
Ubr3	T	C	2: 69,781,739 (GRCm39)	M640T	possibly damaging	Het
Vegfa	A	T	17: 46,336,377 (GRCm39)	Y248N	probably damaging	Het
Vmn1r172	T	G	7: 23,358,857 (GRCm39)		probably null	Het
Vmn1r29	G	T	6: 58,284,834 (GRCm39)	V185F	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Wdfy4	T	C	14: 32,792,705 (GRCm39)	K2114E		Het

Other mutations in Ccdc9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00469:Ccdc9b	APN	2	118,590,170 (GRCm39)	missense	possibly damaging	0.94
IGL03327:Ccdc9b	APN	2	118,592,151 (GRCm39)	missense	probably damaging	1.00
R1269:Ccdc9b	UTSW	2	118,591,871 (GRCm39)	missense	possibly damaging	0.65
R1453:Ccdc9b	UTSW	2	118,587,903 (GRCm39)	missense	possibly damaging	0.91
R1495:Ccdc9b	UTSW	2	118,591,013 (GRCm39)	missense	probably damaging	1.00
R1529:Ccdc9b	UTSW	2	118,592,241 (GRCm39)	critical splice acceptor site	probably null
R1765:Ccdc9b	UTSW	2	118,591,128 (GRCm39)	missense	probably benign	0.02
R4766:Ccdc9b	UTSW	2	118,590,058 (GRCm39)	missense	probably damaging	1.00
R5445:Ccdc9b	UTSW	2	118,590,067 (GRCm39)	missense	probably damaging	1.00
R5891:Ccdc9b	UTSW	2	118,591,864 (GRCm39)	missense	probably damaging	1.00
R5895:Ccdc9b	UTSW	2	118,590,098 (GRCm39)	missense	probably benign	0.02
R7271:Ccdc9b	UTSW	2	118,591,164 (GRCm39)	critical splice acceptor site	probably null
R8024:Ccdc9b	UTSW	2	118,591,005 (GRCm39)	critical splice donor site	probably null
R8293:Ccdc9b	UTSW	2	118,591,796 (GRCm39)	missense	probably damaging	0.98
R8544:Ccdc9b	UTSW	2	118,587,702 (GRCm39)	missense	unknown
R8728:Ccdc9b	UTSW	2	118,587,793 (GRCm39)	missense	probably benign	0.00
R8786:Ccdc9b	UTSW	2	118,587,732 (GRCm39)	missense	unknown
R9710:Ccdc9b	UTSW	2	118,591,077 (GRCm39)	missense	probably benign	0.00
R9792:Ccdc9b	UTSW	2	118,587,784 (GRCm39)	missense	unknown
R9793:Ccdc9b	UTSW	2	118,587,784 (GRCm39)	missense	unknown
R9795:Ccdc9b	UTSW	2	118,587,784 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGTTAGCCCTACCCAAGTCC -3'
(R):5'- ATGCGTGCAAAAGGTCCAC -3'

Sequencing Primer
(F):5'- GTCCCACAGTCACAGCAAG -3'
(R):5'- TGCAAAAGGTCCACAGCAAG -3'

Posted On

2020-09-15