Mutagenetix > Incidental Mutation

Incidental Mutation 'R9419:Ccdc168'

712201

Institutional Source

Beutler Lab

Gene Symbol

Ccdc168

Ensembl Gene

ENSMUSG00000091844

Gene Name

coiled-coil domain containing 168

Synonyms

Gm8251

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R9419 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44095032-44118906 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44096935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1388 (I1388V)

Ref Sequence

ENSEMBL: ENSMUSP00000127017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168641]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000168641
AA Change: I1388V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: I1388V

Domain	Start	End	E-Value	Type
Pfam:CCDC168_N	2	202	2.5e-83	PFAM
Pfam:CCDC168_N	200	302	1.7e-26	PFAM
Pfam:CCDC168_N	347	397	2.1e-4	PFAM
Pfam:CCDC168_N	437	581	8.5e-8	PFAM
Pfam:CCDC168_N	663	802	6.3e-5	PFAM
Pfam:CCDC168_N	788	955	1e-9	PFAM
low complexity region	1803	1819	N/A	INTRINSIC
low complexity region	1830	1847	N/A	INTRINSIC
low complexity region	1968	1984	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	T	C	3: 19,682,685 (GRCm39)	T30A	unknown	Het
Abca12	A	G	1: 71,342,649 (GRCm39)	Y944H	possibly damaging	Het
Adgrv1	T	C	13: 81,656,887 (GRCm39)	N2869S	probably benign	Het
Ank1	C	A	8: 23,574,825 (GRCm39)	Q140K	probably damaging	Het
Aspm	T	A	1: 139,384,923 (GRCm39)	M189K	probably benign	Het
Atp2b1	G	T	10: 98,837,178 (GRCm39)	R539L	possibly damaging	Het
Camsap1	A	G	2: 25,845,304 (GRCm39)	S152P		Het
Catsperd	A	T	17: 56,958,821 (GRCm39)	I276L	probably benign	Het
Cbarp	A	G	10: 79,967,861 (GRCm39)	V460A	probably damaging	Het
Cd40	A	T	2: 164,904,162 (GRCm39)		probably benign	Het
Cdk11b	A	T	4: 155,724,302 (GRCm39)	T307S	unknown	Het
Chfr	C	T	5: 110,317,056 (GRCm39)	T643I	probably damaging	Het
Cnbd1	T	C	4: 19,098,156 (GRCm39)	Q88R	probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Ghdc	G	T	11: 100,661,081 (GRCm39)	A28D	probably damaging	Het
Gm5114	T	C	7: 39,057,540 (GRCm39)	H693R	possibly damaging	Het
H2-M1	G	T	17: 36,981,231 (GRCm39)	A268E	probably damaging	Het
Hsf5	A	G	11: 87,528,935 (GRCm39)	N557D	probably benign	Het
Ighg2c	A	G	12: 113,251,015 (GRCm39)		probably benign	Het
Il17ra	C	A	6: 120,458,255 (GRCm39)	Q469K	possibly damaging	Het
Ipo8	T	A	6: 148,686,064 (GRCm39)	N809Y	probably benign	Het
Klra10	T	A	6: 130,256,435 (GRCm39)	Q73L	probably damaging	Het
Lamb2	T	C	9: 108,356,959 (GRCm39)	V3A	unknown	Het
Map3k9	T	C	12: 81,827,341 (GRCm39)	Y103C	probably damaging	Het
Map4	T	C	9: 109,882,029 (GRCm39)	S298P	possibly damaging	Het
Mtus2	T	A	5: 148,243,451 (GRCm39)	N1254K	probably damaging	Het
Nap1l5	T	A	6: 58,883,952 (GRCm39)	M1L	probably benign	Het
Nfxl1	G	A	5: 72,716,641 (GRCm39)		probably benign	Het
Nmd3	T	C	3: 69,643,349 (GRCm39)	I227T	probably benign	Het
Or8c10	T	G	9: 38,279,162 (GRCm39)	C97G	probably damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Ptchd3	G	A	11: 121,732,356 (GRCm39)	M415I	possibly damaging	Het
Rab28	A	T	5: 41,793,182 (GRCm39)	S154R	possibly damaging	Het
Rin1	A	G	19: 5,103,735 (GRCm39)	E567G	probably damaging	Het
Rrbp1	A	C	2: 143,811,436 (GRCm39)	V806G	probably benign	Het
Sec63	T	A	10: 42,679,901 (GRCm39)	L326Q	probably damaging	Het
Serinc2	T	C	4: 130,149,315 (GRCm39)	T296A	probably damaging	Het
Skint10	G	A	4: 112,572,981 (GRCm39)	L272F	probably damaging	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Stag1	A	G	9: 100,811,967 (GRCm39)	Q815R	probably benign	Het
Stat3	A	G	11: 100,780,357 (GRCm39)	M735T	possibly damaging	Het
Stat3	A	G	11: 100,784,738 (GRCm39)	I576T	probably benign	Het
Styxl2	T	C	1: 165,927,755 (GRCm39)	Q619R	probably damaging	Het
Syne1	T	C	10: 5,155,071 (GRCm39)	K5623E	probably benign	Het
Tas1r2	T	C	4: 139,387,036 (GRCm39)	V165A	possibly damaging	Het
Tcaf3	A	T	6: 42,573,716 (GRCm39)	D165E	probably benign	Het
Tex2	G	A	11: 106,457,835 (GRCm39)	Q532*	probably null	Het
Utrn	T	C	10: 12,564,125 (GRCm39)	E1245G	probably damaging	Het

Other mutations in Ccdc168

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
D3080:Ccdc168	UTSW	1	44,106,495 (GRCm39)
R0045:Ccdc168	UTSW	1	44,096,365 (GRCm39)	missense	probably benign
R0110:Ccdc168	UTSW	1	44,098,384 (GRCm39)	missense	probably benign
R0450:Ccdc168	UTSW	1	44,100,257 (GRCm39)	missense	possibly damaging	0.85
R0469:Ccdc168	UTSW	1	44,100,257 (GRCm39)	missense	possibly damaging	0.85
R0510:Ccdc168	UTSW	1	44,100,257 (GRCm39)	missense	possibly damaging	0.85
R0602:Ccdc168	UTSW	1	44,099,127 (GRCm39)	missense	possibly damaging	0.96
R0648:Ccdc168	UTSW	1	44,095,723 (GRCm39)	missense	possibly damaging	0.73
R0928:Ccdc168	UTSW	1	44,096,388 (GRCm39)	missense	possibly damaging	0.73
R1056:Ccdc168	UTSW	1	44,100,087 (GRCm39)	missense	probably damaging	1.00
R1217:Ccdc168	UTSW	1	44,096,339 (GRCm39)	missense	possibly damaging	0.73
R1232:Ccdc168	UTSW	1	44,095,752 (GRCm39)	missense	possibly damaging	0.96
R1399:Ccdc168	UTSW	1	44,100,471 (GRCm39)	missense	possibly damaging	0.93
R1489:Ccdc168	UTSW	1	44,100,667 (GRCm39)	missense	probably benign	0.06
R1489:Ccdc168	UTSW	1	44,096,950 (GRCm39)	missense	probably benign	0.18
R1519:Ccdc168	UTSW	1	44,096,130 (GRCm39)	missense	probably benign	0.33
R1664:Ccdc168	UTSW	1	44,098,387 (GRCm39)	missense	possibly damaging	0.71
R1828:Ccdc168	UTSW	1	44,096,234 (GRCm39)	missense	possibly damaging	0.72
R1944:Ccdc168	UTSW	1	44,101,009 (GRCm39)	missense	probably damaging	0.97
R2032:Ccdc168	UTSW	1	44,100,900 (GRCm39)	missense	possibly damaging	0.86
R2094:Ccdc168	UTSW	1	44,098,890 (GRCm39)	missense	probably benign	0.06
R2170:Ccdc168	UTSW	1	44,095,168 (GRCm39)	missense	probably benign	0.18
R2185:Ccdc168	UTSW	1	44,100,541 (GRCm39)	missense	probably benign	0.01
R2280:Ccdc168	UTSW	1	44,095,620 (GRCm39)	missense	possibly damaging	0.53
R2281:Ccdc168	UTSW	1	44,095,620 (GRCm39)	missense	possibly damaging	0.53
R2339:Ccdc168	UTSW	1	44,100,023 (GRCm39)	missense	probably benign
R3617:Ccdc168	UTSW	1	44,100,114 (GRCm39)	missense	probably benign
R3738:Ccdc168	UTSW	1	44,098,026 (GRCm39)	missense	probably benign	0.33
R4012:Ccdc168	UTSW	1	44,100,129 (GRCm39)	missense	possibly damaging	0.85
R4034:Ccdc168	UTSW	1	44,098,026 (GRCm39)	missense	probably benign	0.33
R4344:Ccdc168	UTSW	1	44,100,151 (GRCm39)	missense	possibly damaging	0.86
R4436:Ccdc168	UTSW	1	44,095,276 (GRCm39)	missense	probably benign	0.03
R4485:Ccdc168	UTSW	1	44,099,283 (GRCm39)	missense	probably benign
R4735:Ccdc168	UTSW	1	44,100,861 (GRCm39)	missense	probably benign
R4782:Ccdc168	UTSW	1	44,098,203 (GRCm39)	missense	possibly damaging	0.85
R4837:Ccdc168	UTSW	1	44,100,594 (GRCm39)	missense	possibly damaging	0.93
R4862:Ccdc168	UTSW	1	44,097,178 (GRCm39)	missense	possibly damaging	0.93
R5247:Ccdc168	UTSW	1	44,096,166 (GRCm39)	nonsense	probably null
R5347:Ccdc168	UTSW	1	44,096,955 (GRCm39)	missense	probably benign	0.01
R5355:Ccdc168	UTSW	1	44,097,139 (GRCm39)	missense	possibly damaging	0.53
R5559:Ccdc168	UTSW	1	44,097,675 (GRCm39)	missense	possibly damaging	0.77
R5640:Ccdc168	UTSW	1	44,101,087 (GRCm39)	missense	probably benign	0.00
R5681:Ccdc168	UTSW	1	44,100,624 (GRCm39)	missense	possibly damaging	0.93
R5776:Ccdc168	UTSW	1	44,095,665 (GRCm39)	missense	possibly damaging	0.72
R5919:Ccdc168	UTSW	1	44,096,146 (GRCm39)	missense	probably benign
R5987:Ccdc168	UTSW	1	44,096,417 (GRCm39)	missense	probably benign
R6616:Ccdc168	UTSW	1	44,100,634 (GRCm39)	missense	possibly damaging	0.51
R6677:Ccdc168	UTSW	1	44,097,859 (GRCm39)	missense	probably benign	0.00
R6830:Ccdc168	UTSW	1	44,095,890 (GRCm39)	missense	probably benign	0.33
R6906:Ccdc168	UTSW	1	44,095,173 (GRCm39)	missense	probably benign	0.33
R6909:Ccdc168	UTSW	1	44,098,935 (GRCm39)	missense	possibly damaging	0.71
R6957:Ccdc168	UTSW	1	44,096,367 (GRCm39)	missense	probably benign	0.00
R7008:Ccdc168	UTSW	1	44,098,785 (GRCm39)	missense	probably benign
R7052:Ccdc168	UTSW	1	44,096,466 (GRCm39)	missense	possibly damaging	0.53
R7176:Ccdc168	UTSW	1	44,099,506 (GRCm39)	missense	probably benign	0.00
R7190:Ccdc168	UTSW	1	44,100,775 (GRCm39)	missense	probably benign	0.32
R7296:Ccdc168	UTSW	1	44,100,076 (GRCm39)	nonsense	probably null
R7347:Ccdc168	UTSW	1	44,098,656 (GRCm39)	missense	probably damaging	0.99
R7371:Ccdc168	UTSW	1	44,100,537 (GRCm39)	missense	probably benign
R7375:Ccdc168	UTSW	1	44,099,694 (GRCm39)	missense	possibly damaging	0.53
R7442:Ccdc168	UTSW	1	44,097,868 (GRCm39)	missense	possibly damaging	0.84
R7450:Ccdc168	UTSW	1	44,097,933 (GRCm39)	missense	probably benign	0.33
R7574:Ccdc168	UTSW	1	44,098,593 (GRCm39)	missense	possibly damaging	0.93
R7586:Ccdc168	UTSW	1	44,099,173 (GRCm39)	missense	probably benign	0.20
R7739:Ccdc168	UTSW	1	44,095,578 (GRCm39)	missense	possibly damaging	0.86
R7878:Ccdc168	UTSW	1	44,095,174 (GRCm39)	missense	probably benign	0.18
R7959:Ccdc168	UTSW	1	44,096,728 (GRCm39)	missense	probably benign
R7991:Ccdc168	UTSW	1	44,098,869 (GRCm39)	missense	probably benign	0.00
R8035:Ccdc168	UTSW	1	44,100,711 (GRCm39)	missense	possibly damaging	0.51
R8281:Ccdc168	UTSW	1	44,095,698 (GRCm39)	missense	possibly damaging	0.93
R8523:Ccdc168	UTSW	1	44,099,994 (GRCm39)	missense	possibly damaging	0.86
R8804:Ccdc168	UTSW	1	44,095,809 (GRCm39)	missense	probably benign
R8869:Ccdc168	UTSW	1	44,097,425 (GRCm39)	missense	possibly damaging	0.68
R8891:Ccdc168	UTSW	1	44,096,284 (GRCm39)	missense	probably benign	0.00
R9010:Ccdc168	UTSW	1	44,100,633 (GRCm39)	missense	possibly damaging	0.51
R9082:Ccdc168	UTSW	1	44,099,874 (GRCm39)	missense	unknown
R9097:Ccdc168	UTSW	1	44,098,049 (GRCm39)	missense	possibly damaging	0.73
R9157:Ccdc168	UTSW	1	44,096,520 (GRCm39)	missense	probably benign	0.33
R9262:Ccdc168	UTSW	1	44,096,269 (GRCm39)	missense	possibly damaging	0.73
R9313:Ccdc168	UTSW	1	44,096,520 (GRCm39)	missense	probably benign	0.33
R9433:Ccdc168	UTSW	1	44,095,668 (GRCm39)	missense	possibly damaging	0.86
R9485:Ccdc168	UTSW	1	44,095,399 (GRCm39)	missense	possibly damaging	0.72
R9511:Ccdc168	UTSW	1	44,098,854 (GRCm39)	missense	probably benign	0.00
R9573:Ccdc168	UTSW	1	44,095,307 (GRCm39)	nonsense	probably null
R9748:Ccdc168	UTSW	1	44,095,824 (GRCm39)	missense	possibly damaging	0.91
YA93:Ccdc168	UTSW	1	44,104,245 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCTAATGGTGTTACACTTTCTTGC -3'
(R):5'- CTTTGCCAGAGACTTCAGACAC -3'

Sequencing Primer
(F):5'- TGTTACACTTTCTTGCTTTTTGATG -3'
(R):5'- TATGTGCCACATTGCTACATACAC -3'

Posted On

2022-05-16