Mutagenetix > Incidental Mutation

Incidental Mutation 'R9367:Ccdc150'

709019

Institutional Source

Beutler Lab

Gene Symbol

Ccdc150

Ensembl Gene

ENSMUSG00000025983

Gene Name

coiled-coil domain containing 150

Synonyms

4930511H11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R9367 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54250683-54368727 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54285601 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 350 (L350F)

Ref Sequence

ENSEMBL: ENSMUSP00000027128 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027128] [ENSMUST00000160472]

AlphaFold

Q8CDI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000027128
AA Change: L350F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027128
Gene: ENSMUSG00000025983
AA Change: L350F

Domain	Start	End	E-Value	Type
coiled coil region	160	250	N/A	INTRINSIC
coiled coil region	288	314	N/A	INTRINSIC
coiled coil region	418	676	N/A	INTRINSIC
coiled coil region	727	952	N/A	INTRINSIC
coiled coil region	985	1048	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000160472
AA Change: L350F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125195
Gene: ENSMUSG00000025983
AA Change: L350F

Domain	Start	End	E-Value	Type
coiled coil region	160	250	N/A	INTRINSIC
coiled coil region	288	314	N/A	INTRINSIC
coiled coil region	418	551	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
4930402H24Rik	A	T	2: 130,739,460	N678K	probably benign	Het
4930568D16Rik	A	T	2: 35,354,927	Y138N	probably benign	Het
Abca4	T	C	3: 122,044,548	M1T	probably null	Het
Acer3	A	G	7: 98,259,414	V104A	probably damaging	Het
Agpat4	A	G	17: 12,216,710	E287G	probably benign	Het
Akip1	C	T	7: 109,708,949	A146V	unknown	Het
Ank2	T	C	3: 126,945,029	N2402S	unknown	Het
Arhgdig	A	T	17: 26,199,477	Y177*	probably null	Het
Arhgef38	T	A	3: 133,142,237	T355S	unknown	Het
Atp8a2	C	A	14: 60,012,378		probably null	Het
Atp8b4	A	G	2: 126,374,510	I672T	probably damaging	Het
Baat	T	A	4: 49,503,008	D38V	probably damaging	Het
Bcl9	T	C	3: 97,210,545	S278G	probably benign	Het
Ceacam20	T	G	7: 19,971,608	S175A	probably damaging	Het
Chd6	A	T	2: 161,029,864	I217K	possibly damaging	Het
Cnppd1	T	C	1: 75,140,973	I35V	probably benign	Het
Col15a1	T	C	4: 47,245,603	I118T	probably damaging	Het
Csmd3	A	T	15: 47,704,168	Y1289N		Het
Dio2	T	C	12: 90,729,813	T134A	probably benign	Het
Dnah17	A	G	11: 118,096,638	V1282A	possibly damaging	Het
Dnah17	A	G	11: 118,121,386	S517P	possibly damaging	Het
Dync2h1	C	T	9: 7,125,730		probably null	Het
Echdc2	C	A	4: 108,178,914	P274Q	probably damaging	Het
Fam117a	T	A	11: 95,380,744	C381S	probably damaging	Het
Fbxl12	A	G	9: 20,638,834	F122S	probably damaging	Het
Gen1	G	A	12: 11,241,308	Q892*	probably null	Het
Gimap4	A	G	6: 48,690,812	Y167C	probably damaging	Het
Gle1	T	A	2: 29,949,002	F476L	probably damaging	Het
Gpr135	A	T	12: 72,070,699	V98E	possibly damaging	Het
Greb1l	A	T	18: 10,522,130	H742L	probably benign	Het
Habp2	G	T	19: 56,316,349	C392F	probably damaging	Het
Hapln3	G	T	7: 79,121,707	R145S	probably damaging	Het
Ikbkb	A	G	8: 22,681,695	C179R	probably damaging	Het
Kat6a	A	T	8: 22,910,140	I306L	possibly damaging	Het
Lmo3	A	T	6: 138,365,960	Y140*	probably null	Het
Lrrc32	T	A	7: 98,499,730	N572K	probably damaging	Het
Lrrn1	T	A	6: 107,568,132	M297K	probably damaging	Het
Magi2	G	A	5: 20,561,310	V676I	probably damaging	Het
Mdga1	T	C	17: 29,832,308	*957W	probably null	Het
Mip	G	T	10: 128,227,160	G158V	probably damaging	Het
Mmp14	T	C	14: 54,440,503	I527T	probably benign	Het
Mmp27	G	A	9: 7,573,549	G188D	probably damaging	Het
Mylk4	A	T	13: 32,776,253	C17S	possibly damaging	Het
Naa50	T	G	16: 44,157,191	I94R	probably damaging	Het
Nyap1	A	T	5: 137,735,986	Y262N	probably damaging	Het
Obsl1	A	G	1: 75,489,533	V1517A	probably benign	Het
P4htm	T	A	9: 108,581,948	M262L	probably benign	Het
Pappa2	T	C	1: 158,956,972	E156G	probably benign	Het
Pcdhb15	A	T	18: 37,474,918	Y401F	possibly damaging	Het
Pde2a	G	A	7: 101,511,154	R845H	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Penk	C	T	4: 4,134,097	M183I	probably benign	Het
Pole	T	C	5: 110,297,089	V437A	probably damaging	Het
Ppp1r7	T	C	1: 93,351,540	I114T	probably damaging	Het
Prr27	C	A	5: 87,843,135	P202Q	probably benign	Het
Pwp2	G	A	10: 78,178,993	Q386*	probably null	Het
Rad17	A	T	13: 100,633,212	S280T	possibly damaging	Het
Rhebl1	C	T	15: 98,878,533	E128K	possibly damaging	Het
Sema3e	G	T	5: 14,241,070	V615L	probably benign	Het
Slc22a2	A	T	17: 12,605,950	Y233F	probably benign	Het
Ssu2	A	G	6: 112,381,014	S123P	probably damaging	Het
Stk10	A	G	11: 32,588,878	E239G		Het
Surf6	G	T	2: 26,892,368	Q316K	probably damaging	Het
Tcerg1	G	A	18: 42,552,508	D637N	possibly damaging	Het
Tm7sf3	C	T	6: 146,623,681	D89N	possibly damaging	Het
Tnxb	C	A	17: 34,713,019	F2175L	probably damaging	Het
Trp53i11	G	C	2: 93,198,928	V91L	probably benign	Het
Tspan9	A	G	6: 127,967,139	V66A	probably damaging	Het
Usp16	C	T	16: 87,464,781	T95M	probably benign	Het
Usp9y	A	T	Y: 1,324,982	F1691Y	probably damaging	Het
Uty	A	T	Y: 1,099,584	L1204I	possibly damaging	Het
Vmn1r192	A	T	13: 22,187,630	V140D	possibly damaging	Het
Vps54	T	C	11: 21,300,234	V552A	probably benign	Het
Vps8	T	C	16: 21,521,918	V804A	possibly damaging	Het
Zfp869	A	C	8: 69,708,407	L33R	probably damaging	Het

Other mutations in Ccdc150

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00712:Ccdc150	APN	1	54272550	splice site	probably benign
IGL00819:Ccdc150	APN	1	54263573	missense	probably damaging	1.00
IGL01973:Ccdc150	APN	1	54300488	splice site	probably null
IGL02352:Ccdc150	APN	1	54272521	missense	probably benign	0.25
IGL02359:Ccdc150	APN	1	54272521	missense	probably benign	0.25
IGL02620:Ccdc150	APN	1	54263545	nonsense	probably null
IGL02673:Ccdc150	APN	1	54328990	missense	probably benign	0.09
IGL03148:Ccdc150	APN	1	54278715	missense	possibly damaging	0.68
IGL03185:Ccdc150	APN	1	54300323	missense	probably damaging	1.00
IGL03014:Ccdc150	UTSW	1	54290702	missense	probably damaging	0.99
R0066:Ccdc150	UTSW	1	54356691	missense	probably benign
R0066:Ccdc150	UTSW	1	54356691	missense	probably benign
R0217:Ccdc150	UTSW	1	54300430	missense	possibly damaging	0.87
R0582:Ccdc150	UTSW	1	54329511	missense	probably benign
R0687:Ccdc150	UTSW	1	54285631	splice site	probably null
R0790:Ccdc150	UTSW	1	54277776	splice site	probably benign
R1146:Ccdc150	UTSW	1	54364971	splice site	probably benign
R1288:Ccdc150	UTSW	1	54364458	missense	probably damaging	1.00
R1763:Ccdc150	UTSW	1	54354636	missense	probably benign	0.42
R1855:Ccdc150	UTSW	1	54367910	intron	probably benign
R1957:Ccdc150	UTSW	1	54263909	missense	probably benign	0.00
R2180:Ccdc150	UTSW	1	54272547	critical splice donor site	probably null
R2226:Ccdc150	UTSW	1	54364925	missense	probably null	0.11
R3054:Ccdc150	UTSW	1	54288842	missense	possibly damaging	0.51
R3055:Ccdc150	UTSW	1	54288842	missense	possibly damaging	0.51
R3056:Ccdc150	UTSW	1	54288842	missense	possibly damaging	0.51
R3409:Ccdc150	UTSW	1	54356773	missense	probably benign	0.02
R3411:Ccdc150	UTSW	1	54356773	missense	probably benign	0.02
R3812:Ccdc150	UTSW	1	54368310	missense	probably benign	0.00
R4031:Ccdc150	UTSW	1	54278811	missense	probably benign	0.31
R4356:Ccdc150	UTSW	1	54353054	missense	probably damaging	0.98
R4617:Ccdc150	UTSW	1	54355754	missense	probably benign	0.00
R4757:Ccdc150	UTSW	1	54278715	missense	possibly damaging	0.81
R4957:Ccdc150	UTSW	1	54364868	intron	probably benign
R5028:Ccdc150	UTSW	1	54263477	missense	probably benign	0.01
R5512:Ccdc150	UTSW	1	54354647	missense	probably damaging	0.96
R5757:Ccdc150	UTSW	1	54263620	missense	probably damaging	1.00
R5943:Ccdc150	UTSW	1	54300367	missense	probably benign	0.01
R5948:Ccdc150	UTSW	1	54277714	missense	possibly damaging	0.79
R6033:Ccdc150	UTSW	1	54285628	critical splice donor site	probably null
R6033:Ccdc150	UTSW	1	54285628	critical splice donor site	probably null
R6065:Ccdc150	UTSW	1	54263599	missense	possibly damaging	0.90
R6390:Ccdc150	UTSW	1	54368017	missense	probably benign	0.01
R6399:Ccdc150	UTSW	1	54263957	splice site	probably null
R6988:Ccdc150	UTSW	1	54355709	nonsense	probably null
R7248:Ccdc150	UTSW	1	54304898	missense	probably benign	0.00
R7319:Ccdc150	UTSW	1	54263337	splice site	probably null
R7322:Ccdc150	UTSW	1	54259966	missense	probably benign	0.01
R7366:Ccdc150	UTSW	1	54300382	nonsense	probably null
R7647:Ccdc150	UTSW	1	54356704	missense	probably damaging	1.00
R7981:Ccdc150	UTSW	1	54368392	missense	probably damaging	1.00
R8002:Ccdc150	UTSW	1	54272497	missense	probably damaging	0.99
R8201:Ccdc150	UTSW	1	54329487	missense	probably benign	0.10
R8688:Ccdc150	UTSW	1	54367973	missense	probably damaging	1.00
R8719:Ccdc150	UTSW	1	54263509	missense	probably benign	0.00
R8963:Ccdc150	UTSW	1	54272482	missense	probably benign	0.14
R9178:Ccdc150	UTSW	1	54272485	missense	probably damaging	0.99
R9200:Ccdc150	UTSW	1	54260038	missense	probably damaging	1.00
R9332:Ccdc150	UTSW	1	54277751	missense	probably damaging	0.99
R9416:Ccdc150	UTSW	1	54278831	missense	probably damaging	0.97
R9430:Ccdc150	UTSW	1	54281771	missense	probably damaging	1.00
R9576:Ccdc150	UTSW	1	54368385	nonsense	probably null
R9747:Ccdc150	UTSW	1	54259948	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCACAAGTGGACACTGATAG -3'
(R):5'- CCTTGTGTACCACAGAGTCAAAG -3'

Sequencing Primer
(F):5'- CACTGATAGTGGTCAGAATACAGACC -3'
(R):5'- TGTACCACAGAGTCAAAGGAATTTG -3'

Posted On

2022-04-18