Mutagenetix > Incidental Mutation

Incidental Mutation 'R7598:Ccdc122'

587856

Institutional Source

Beutler Lab

Gene Symbol

Ccdc122

Ensembl Gene

ENSMUSG00000034795

Gene Name

coiled-coil domain containing 122

Synonyms

4933415L06Rik

MMRRC Submission

045641-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7598 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77274212-77349697 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 77349006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 279 (Q279K)

Ref Sequence

ENSEMBL: ENSMUSP00000036369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048208] [ENSMUST00000095625] [ENSMUST00000175810]

AlphaFold

Q8BVN0

Predicted Effect

probably benign
Transcript: ENSMUST00000048208
AA Change: Q279K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000036369
Gene: ENSMUSG00000034795
AA Change: Q279K

Domain	Start	End	E-Value	Type
coiled coil region	33	102	N/A	INTRINSIC
coiled coil region	152	182	N/A	INTRINSIC
coiled coil region	209	279	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000095625
AA Change: Q107K

SMART Domains

Protein: ENSMUSP00000093285
Gene: ENSMUSG00000034795
AA Change: Q107K

Domain	Start	End	E-Value	Type
coiled coil region	68	107	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175810

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,480,370 (GRCm39)	S234G	probably benign	Het
Agtr1b	A	T	3: 20,370,077 (GRCm39)	N176K	possibly damaging	Het
AI661453	T	C	17: 47,777,045 (GRCm39)	V257A	unknown	Het
Alpk2	T	A	18: 65,437,637 (GRCm39)	K1252M	probably damaging	Het
Angpt4	A	G	2: 151,767,445 (GRCm39)	T159A	possibly damaging	Het
Ap1g1	A	G	8: 110,576,308 (GRCm39)	N447S	probably benign	Het
Apoc4	A	G	7: 19,415,265 (GRCm39)	V14A	probably benign	Het
Arfgef2	A	C	2: 166,698,444 (GRCm39)	Q638P	probably benign	Het
Arhgap20	C	A	9: 51,761,090 (GRCm39)	F980L	possibly damaging	Het
Arhgap27	G	A	11: 103,224,879 (GRCm39)	R459*	probably null	Het
Arhgef15	A	T	11: 68,837,236 (GRCm39)	L785Q	probably damaging	Het
B3gnt7	T	C	1: 86,233,500 (GRCm39)	F249L	probably benign	Het
Carmil3	A	G	14: 55,732,278 (GRCm39)	E233G	possibly damaging	Het
Cilp2	A	G	8: 70,338,682 (GRCm39)	C134R	probably benign	Het
Clec4b1	G	A	6: 123,048,427 (GRCm39)	W187*	probably null	Het
Ddx11	G	A	17: 66,437,541 (GRCm39)		probably null	Het
Dhrs7c	A	T	11: 67,702,279 (GRCm39)		probably null	Het
Eif4g3	T	A	4: 137,921,435 (GRCm39)	H1387Q	probably benign	Het
Gsdmc4	T	C	15: 63,772,235 (GRCm39)	N148S	probably damaging	Het
Hs6st3	T	A	14: 120,106,750 (GRCm39)	V386E	probably damaging	Het
Itih3	C	T	14: 30,639,334 (GRCm39)	R413Q	possibly damaging	Het
Kcnj4	T	C	15: 79,369,965 (GRCm39)	N5S	probably benign	Het
Klhl18	A	T	9: 110,275,878 (GRCm39)	L155*	probably null	Het
Lima1	G	A	15: 99,717,577 (GRCm39)	P143L	probably benign	Het
Lzts2	G	T	19: 45,012,272 (GRCm39)	G234*	probably null	Het
Map4k5	A	T	12: 69,871,412 (GRCm39)	F503L	possibly damaging	Het
Men1	A	T	19: 6,389,735 (GRCm39)	I463L	probably benign	Het
Muc5b	A	G	7: 141,412,999 (GRCm39)	T1982A	unknown	Het
Myo18a	A	T	11: 77,738,172 (GRCm39)	T1705S	probably damaging	Het
Nipbl	T	C	15: 8,372,977 (GRCm39)	S1090G	probably benign	Het
Or2b7	T	C	13: 21,739,358 (GRCm39)	Y278C	probably damaging	Het
Or8k28	C	A	2: 86,286,234 (GRCm39)	C127F	probably damaging	Het
Pcdhb7	T	C	18: 37,475,833 (GRCm39)	F323S	probably damaging	Het
Pde11a	T	A	2: 75,966,767 (GRCm39)	T561S	probably damaging	Het
Phip	A	C	9: 82,787,711 (GRCm39)	S817R	possibly damaging	Het
Phxr2	T	A	10: 98,961,941 (GRCm39)	M40L	unknown	Het
Pip4k2a	T	A	2: 18,877,098 (GRCm39)	L212F	possibly damaging	Het
Proc	T	A	18: 32,268,929 (GRCm39)	I19L	probably benign	Het
Rbm4	T	C	19: 4,842,539 (GRCm39)	E100G	possibly damaging	Het
Rhobtb3	T	C	13: 76,059,021 (GRCm39)	Y259C	probably benign	Het
Rtkn	A	G	6: 83,124,884 (GRCm39)	D168G	probably null	Het
Sdk1	T	G	5: 141,595,753 (GRCm39)	Y136*	probably null	Het
Slk	G	A	19: 47,624,901 (GRCm39)	E1041K	probably damaging	Het
Smok2b	A	T	17: 13,454,973 (GRCm39)	R378*	probably null	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spag16	T	C	1: 69,909,467 (GRCm39)	F188S	probably damaging	Het
Tlnrd1	A	G	7: 83,531,838 (GRCm39)	C198R	probably damaging	Het
Tor1a	A	C	2: 30,857,796 (GRCm39)	I24S	probably benign	Het
Unc13b	C	A	4: 43,263,569 (GRCm39)	T1598K	probably benign	Het
Uncx	G	A	5: 139,529,809 (GRCm39)	V21M	probably benign	Het
Usp5	A	T	6: 124,803,342 (GRCm39)	F53I	possibly damaging	Het
Wbp2nl	A	G	15: 82,192,762 (GRCm39)	M149V	probably benign	Het
Zfp654	T	A	16: 64,606,297 (GRCm39)	E94V	possibly damaging	Het
Zfp689	A	G	7: 127,047,840 (GRCm39)	L64P	probably benign	Het
Zfyve28	A	C	5: 34,393,461 (GRCm39)	N68K	probably damaging	Het

Other mutations in Ccdc122

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Ccdc122	APN	14	77,329,179 (GRCm39)	missense	probably benign	0.02
IGL01307:Ccdc122	APN	14	77,329,516 (GRCm39)	splice site	probably benign
IGL02585:Ccdc122	APN	14	77,330,202 (GRCm39)	splice site	probably benign
IGL03376:Ccdc122	APN	14	77,306,352 (GRCm39)	missense	probably damaging	1.00
R0724:Ccdc122	UTSW	14	77,329,517 (GRCm39)	splice site	probably benign
R0732:Ccdc122	UTSW	14	77,329,199 (GRCm39)	missense	probably damaging	0.99
R1123:Ccdc122	UTSW	14	77,305,351 (GRCm39)	missense	probably damaging	1.00
R1528:Ccdc122	UTSW	14	77,305,379 (GRCm39)	missense	possibly damaging	0.87
R1860:Ccdc122	UTSW	14	77,348,847 (GRCm39)	missense	probably damaging	1.00
R2072:Ccdc122	UTSW	14	77,306,391 (GRCm39)	critical splice donor site	probably null
R2074:Ccdc122	UTSW	14	77,306,391 (GRCm39)	critical splice donor site	probably null
R2075:Ccdc122	UTSW	14	77,306,391 (GRCm39)	critical splice donor site	probably null
R2421:Ccdc122	UTSW	14	77,329,103 (GRCm39)	splice site	probably benign
R2442:Ccdc122	UTSW	14	77,329,398 (GRCm39)	missense	possibly damaging	0.89
R4798:Ccdc122	UTSW	14	77,349,047 (GRCm39)	utr 3 prime	probably benign
R4973:Ccdc122	UTSW	14	77,305,381 (GRCm39)	missense	possibly damaging	0.92
R5487:Ccdc122	UTSW	14	77,329,119 (GRCm39)	missense	probably benign	0.31
R5576:Ccdc122	UTSW	14	77,329,317 (GRCm39)	missense	probably benign	0.24
R5630:Ccdc122	UTSW	14	77,330,216 (GRCm39)	missense	probably damaging	1.00
R6502:Ccdc122	UTSW	14	77,279,509 (GRCm39)	splice site	probably null
R6833:Ccdc122	UTSW	14	77,326,371 (GRCm39)	critical splice acceptor site	probably benign
R7585:Ccdc122	UTSW	14	77,329,139 (GRCm39)	missense	probably damaging	0.96
R7774:Ccdc122	UTSW	14	77,305,379 (GRCm39)	missense	probably benign	0.00
R8170:Ccdc122	UTSW	14	77,329,318 (GRCm39)	missense	probably benign	0.01
R9515:Ccdc122	UTSW	14	77,329,408 (GRCm39)	missense
R9546:Ccdc122	UTSW	14	77,306,313 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTCCGAGTGTCTGTTATGACC -3'
(R):5'- TGCACTATAGACAGGAAGACAC -3'

Sequencing Primer
(F):5'- ATGACCGTTGATTCGTGCTCAC -3'
(R):5'- ACTTTAACCAACAGATACCTGATTC -3'

Posted On

2019-10-24