Mutagenetix > Incidental Mutation

Incidental Mutation 'R7042:Ccdc7b'

557114

Institutional Source

Beutler Lab

Gene Symbol

Ccdc7b

Ensembl Gene

ENSMUSG00000056018

Gene Name

coiled-coil domain containing 7B

Synonyms

1700008F21Rik

MMRRC Submission

045141-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R7042 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129793615-129910213 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129811730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 147 (Y147N)

Ref Sequence

ENSEMBL: ENSMUSP00000118197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026912] [ENSMUST00000108745] [ENSMUST00000140887] [ENSMUST00000148234]

AlphaFold

E9Q9Y3

Predicted Effect

probably benign
Transcript: ENSMUST00000026912

SMART Domains

Protein: ENSMUSP00000026912
Gene: ENSMUSG00000056018

Domain	Start	End	E-Value	Type
Pfam:BioT2	1	93	1.7e-36	PFAM
coiled coil region	225	262	N/A	INTRINSIC
low complexity region	276	287	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108745

SMART Domains

Protein: ENSMUSP00000104378
Gene: ENSMUSG00000056018

Domain	Start	End	E-Value	Type
coiled coil region	22	59	N/A	INTRINSIC
low complexity region	73	84	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140887
AA Change: Y147N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000119034
Gene: ENSMUSG00000056018
AA Change: Y147N

Domain	Start	End	E-Value	Type
Pfam:BioT2	1	153	1.3e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148234
AA Change: Y147N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000118197
Gene: ENSMUSG00000056018
AA Change: Y147N

Domain	Start	End	E-Value	Type
Pfam:BioT2	1	153	1.3e-64	PFAM

Coding Region Coverage

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

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,192,098 (GRCm39)	S554G	possibly damaging	Het
Adcy7	G	T	8: 89,042,378 (GRCm39)	R415L	probably damaging	Het
Aox1	A	T	1: 58,141,759 (GRCm39)	I1182F	probably damaging	Het
Clcnka	A	G	4: 141,118,691 (GRCm39)	I398T	probably damaging	Het
Cst8	T	A	2: 148,641,796 (GRCm39)		probably null	Het
Dcxr	T	C	11: 120,617,841 (GRCm39)	D45G	possibly damaging	Het
Dhx38	A	T	8: 110,283,617 (GRCm39)	M510K	possibly damaging	Het
Dync2i1	T	C	12: 116,218,061 (GRCm39)	I182M	probably benign	Het
Ebf1	T	A	11: 44,882,338 (GRCm39)	H431Q	probably damaging	Het
Eml4	T	C	17: 83,768,999 (GRCm39)	I681T	probably damaging	Het
Etf1	T	C	18: 35,043,219 (GRCm39)	N164S	probably benign	Het
Fmo2	A	G	1: 162,708,226 (GRCm39)	V303A	probably damaging	Het
Foxl2	T	A	9: 98,837,715 (GRCm39)	M1K	probably null	Het
Gm3404	A	T	5: 146,462,969 (GRCm39)	E50D	probably benign	Het
Gpr61	G	A	3: 108,058,647 (GRCm39)	P5S	possibly damaging	Het
Hcrtr1	A	G	4: 130,024,653 (GRCm39)		probably benign	Het
Ier3ip1	T	A	18: 77,017,828 (GRCm39)	F3I	possibly damaging	Het
Ifi206	G	A	1: 173,308,808 (GRCm39)	P396L		Het
Ifi209	G	A	1: 173,470,236 (GRCm39)	V275I	probably benign	Het
Ighv1-69	T	C	12: 115,586,909 (GRCm39)	S75G	probably benign	Het
Kcnj3	A	T	2: 55,484,877 (GRCm39)	H325L	possibly damaging	Het
Klrk1	A	T	6: 129,593,734 (GRCm39)	S50T	possibly damaging	Het
Mfsd4b4	T	A	10: 39,768,514 (GRCm39)	Y193F	probably damaging	Het
Nlrp5	A	G	7: 23,116,905 (GRCm39)	I210V	possibly damaging	Het
Or4p20	T	A	2: 88,253,746 (GRCm39)	I208F	possibly damaging	Het
Or5w12	A	T	2: 87,501,935 (GRCm39)	Y259N	possibly damaging	Het
Or8b3	G	T	9: 38,314,196 (GRCm39)	G6C	probably damaging	Het
Or8d23	A	G	9: 38,841,622 (GRCm39)	S52G	possibly damaging	Het
Pax6	A	T	2: 105,526,718 (GRCm39)	H208L	probably benign	Het
Pgc	C	A	17: 48,044,745 (GRCm39)	Q331K	probably benign	Het
Phldb1	A	G	9: 44,605,721 (GRCm39)	S370P	probably damaging	Het
Pi4k2a	T	C	19: 42,093,337 (GRCm39)	I226T	probably benign	Het
Pick1	T	C	15: 79,132,965 (GRCm39)	S342P	probably damaging	Het
Plscr1	A	G	9: 92,153,588 (GRCm39)	M312V	probably damaging	Het
Ppp3cc	T	G	14: 70,462,468 (GRCm39)	K399Q	probably benign	Het
Qpctl	T	C	7: 18,880,943 (GRCm39)	H163R	probably benign	Het
Rab11fip5	A	G	6: 85,351,110 (GRCm39)	V134A	possibly damaging	Het
Rasal1	T	A	5: 120,802,025 (GRCm39)		probably null	Het
Rem2	T	A	14: 54,715,548 (GRCm39)	I171N	probably damaging	Het
Sec22a	T	A	16: 35,149,885 (GRCm39)	I214L	probably benign	Het
Setbp1	T	C	18: 79,130,070 (GRCm39)	D54G	probably damaging	Het
Slc27a2	C	T	2: 126,409,700 (GRCm39)	A294V	probably damaging	Het
Slfn14	T	A	11: 83,167,430 (GRCm39)	D695V	probably damaging	Het
Smc6	T	A	12: 11,359,301 (GRCm39)	I975K	probably damaging	Het
Spice1	T	C	16: 44,206,043 (GRCm39)	F835L	probably benign	Het
Tars2	A	T	3: 95,658,057 (GRCm39)	H222Q	probably benign	Het
Tmtc2	A	T	10: 105,206,477 (GRCm39)	F273I	probably damaging	Het
Ttc39d	C	A	17: 80,523,891 (GRCm39)	D183E	probably benign	Het
Vasp	A	G	7: 18,995,946 (GRCm39)	S128P	probably benign	Het
Vcpip1	A	G	1: 9,818,378 (GRCm39)	S2P	unknown	Het
Vmn2r98	T	C	17: 19,301,184 (GRCm39)	Y729H	probably benign	Het
Wdr18	A	T	10: 79,801,944 (GRCm39)	D243V	probably benign	Het
Xirp2	T	C	2: 67,343,633 (GRCm39)	V1958A	probably benign	Het
Zfp451	A	T	1: 33,816,474 (GRCm39)	M492K	probably damaging	Het
Zfp804b	A	G	5: 6,820,042 (GRCm39)	I1007T	probably benign	Het

Other mutations in Ccdc7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Ccdc7b	APN	8	129,904,838 (GRCm39)	missense	possibly damaging	0.66
IGL01751:Ccdc7b	APN	8	129,863,049 (GRCm39)	splice site	probably benign
IGL02529:Ccdc7b	APN	8	129,904,706 (GRCm39)	missense	possibly damaging	0.92
IGL02596:Ccdc7b	APN	8	129,798,959 (GRCm39)	missense	probably benign	0.00
R0107:Ccdc7b	UTSW	8	129,904,678 (GRCm39)	splice site	probably benign
R0628:Ccdc7b	UTSW	8	129,837,498 (GRCm39)	intron	probably benign
R0709:Ccdc7b	UTSW	8	129,863,127 (GRCm39)	missense	probably benign	0.00
R1317:Ccdc7b	UTSW	8	129,863,127 (GRCm39)	missense	probably benign	0.00
R1594:Ccdc7b	UTSW	8	129,904,838 (GRCm39)	missense	possibly damaging	0.66
R2290:Ccdc7b	UTSW	8	129,857,587 (GRCm39)	splice site	probably benign
R4112:Ccdc7b	UTSW	8	129,811,708 (GRCm39)	start gained	probably benign
R4585:Ccdc7b	UTSW	8	129,837,401 (GRCm39)	missense	probably benign	0.06
R4586:Ccdc7b	UTSW	8	129,837,401 (GRCm39)	missense	probably benign	0.06
R4747:Ccdc7b	UTSW	8	129,904,716 (GRCm39)	missense	probably benign
R4978:Ccdc7b	UTSW	8	129,836,688 (GRCm39)	critical splice donor site	probably null
R4988:Ccdc7b	UTSW	8	129,872,013 (GRCm39)	missense	possibly damaging	0.53
R5470:Ccdc7b	UTSW	8	129,799,081 (GRCm39)	missense	possibly damaging	0.95
R5732:Ccdc7b	UTSW	8	129,799,195 (GRCm39)	missense	possibly damaging	0.71
R6590:Ccdc7b	UTSW	8	129,904,700 (GRCm39)	missense	probably benign	0.00
R6599:Ccdc7b	UTSW	8	129,893,462 (GRCm39)	missense	probably benign
R6690:Ccdc7b	UTSW	8	129,904,700 (GRCm39)	missense	probably benign	0.00
R6881:Ccdc7b	UTSW	8	129,799,028 (GRCm39)	missense	probably damaging	1.00
R7728:Ccdc7b	UTSW	8	129,799,171 (GRCm39)	missense	unknown
R7891:Ccdc7b	UTSW	8	129,799,146 (GRCm39)	missense	unknown
R8213:Ccdc7b	UTSW	8	129,904,772 (GRCm39)	missense	probably benign	0.00
R8708:Ccdc7b	UTSW	8	129,863,095 (GRCm39)	missense	probably benign	0.01
R8836:Ccdc7b	UTSW	8	129,857,512 (GRCm39)	splice site	probably benign
R8847:Ccdc7b	UTSW	8	129,872,082 (GRCm39)	missense
R9272:Ccdc7b	UTSW	8	129,893,459 (GRCm39)	missense	possibly damaging	0.46
R9287:Ccdc7b	UTSW	8	129,890,321 (GRCm39)	missense	probably benign	0.27
R9478:Ccdc7b	UTSW	8	129,837,473 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGTTTGAAGCAGCAAGAAATTACACAA -3'
(R):5'- CTGGCAATCAGTACTATGATAATTCTT -3'

Sequencing Primer
(F):5'- GTGGATATACAAGTGGGC -3'
(R):5'- CGAAGTCATATTTGAAAGTACTCT -3'

Posted On

2019-06-21