Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03144:Ceacam20'

410835

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ceacam20

Ensembl Gene

ENSMUSG00000070777

Gene Name

CEA cell adhesion molecule 20

Synonyms

9130012D09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

IGL03144

Quality Score

Status

Chromosome

Chromosomal Location

19699337-19725029 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19705444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 145 (V145A)

Ref Sequence

ENSEMBL: ENSMUSP00000092344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094753]

AlphaFold

Q9D2Z1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094753
AA Change: V145A

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000092344
Gene: ENSMUSG00000070777
AA Change: V145A

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
IG	57	139	1.4e-7	SMART
IGc2	162	220	1.68e-5	SMART
IG	244	326	1.85e-7	SMART
IGc2	349	406	4.67e-4	SMART
transmembrane domain	431	453	N/A	INTRINSIC
low complexity region	458	473	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207248

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	A	17: 24,600,938 (GRCm39)	Q451K	probably benign	Het
Acly	A	T	11: 100,405,909 (GRCm39)	D294E	possibly damaging	Het
Arid3a	C	T	10: 79,782,316 (GRCm39)		probably benign	Het
Ascc3	T	C	10: 50,643,539 (GRCm39)	V1830A	probably benign	Het
Atp6v1b1	T	C	6: 83,735,333 (GRCm39)	V467A	probably benign	Het
Ccdc171	A	T	4: 83,736,327 (GRCm39)	I1233L	probably damaging	Het
Ccdc74a	C	A	16: 17,466,730 (GRCm39)	Q146K	possibly damaging	Het
Cdh26	A	G	2: 178,109,967 (GRCm39)	D420G	probably damaging	Het
Cmya5	C	A	13: 93,227,376 (GRCm39)	A2571S	probably damaging	Het
Cog2	T	C	8: 125,267,763 (GRCm39)	S360P	probably damaging	Het
Col26a1	G	T	5: 136,794,202 (GRCm39)	T132N	probably damaging	Het
Col6a2	T	A	10: 76,450,259 (GRCm39)	H224L	probably benign	Het
Cpm	C	T	10: 117,519,319 (GRCm39)	S409L	probably benign	Het
Dock4	G	T	12: 40,742,906 (GRCm39)		probably benign	Het
Dpy19l2	T	A	9: 24,557,603 (GRCm39)	N391Y	possibly damaging	Het
Exosc9	G	A	3: 36,608,284 (GRCm39)	G126D	probably damaging	Het
Eya3	T	C	4: 132,420,453 (GRCm39)	S256P	probably benign	Het
Fat3	T	C	9: 16,286,541 (GRCm39)	D994G	probably damaging	Het
Fat4	A	G	3: 39,011,008 (GRCm39)	Q2036R	possibly damaging	Het
Fryl	T	C	5: 73,258,798 (GRCm39)	Q662R	probably null	Het
Gm13271	A	G	4: 88,673,636 (GRCm39)	R178G	probably benign	Het
Gpr165	T	A	X: 95,760,560 (GRCm39)	L279Q	probably damaging	Het
Htr1b	A	G	9: 81,513,998 (GRCm39)	L203P	probably damaging	Het
Kcnb2	T	C	1: 15,780,112 (GRCm39)	L328P	probably damaging	Het
Klhl26	C	T	8: 70,905,214 (GRCm39)	R198H	probably damaging	Het
Nhsl2	A	G	X: 101,123,115 (GRCm39)	R973G	possibly damaging	Het
Nmi	A	T	2: 51,842,546 (GRCm39)	F182Y	probably damaging	Het
Nop2	T	A	6: 125,114,475 (GRCm39)		probably null	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Ooep	G	T	9: 78,285,289 (GRCm39)	A109E	possibly damaging	Het
Or1j21	A	G	2: 36,684,093 (GRCm39)	T282A	probably benign	Het
Pan3	T	C	5: 147,387,591 (GRCm39)		probably benign	Het
Pcdhb6	A	G	18: 37,467,459 (GRCm39)	N127D	probably damaging	Het
Rabgap1	G	A	2: 37,430,544 (GRCm39)	R695H	probably damaging	Het
Rxrg	G	A	1: 167,426,327 (GRCm39)	G3R	possibly damaging	Het
Slc17a3	T	C	13: 24,030,423 (GRCm39)	M178T	probably benign	Het
Slc39a8	A	G	3: 135,589,971 (GRCm39)	E287G	probably benign	Het
Slc44a5	G	T	3: 153,949,177 (GRCm39)	D217Y	possibly damaging	Het
Slc4a10	G	T	2: 62,080,810 (GRCm39)	V346L	probably benign	Het
Slc9a4	T	C	1: 40,651,362 (GRCm39)	Y547H	probably damaging	Het
St6galnac3	A	C	3: 152,911,164 (GRCm39)	Y266D	probably damaging	Het
Stard6	A	T	18: 70,609,182 (GRCm39)	Y3F	possibly damaging	Het
Stk25	C	A	1: 93,556,858 (GRCm39)	L53F	probably damaging	Het
Tep1	A	T	14: 51,081,474 (GRCm39)		probably benign	Het
Tmem151a	T	A	19: 5,135,400 (GRCm39)	M1L	probably benign	Het
Trim10	T	C	17: 37,187,740 (GRCm39)	S319P	probably damaging	Het
Trmt44	G	T	5: 35,721,766 (GRCm39)	P466T	probably benign	Het
Unc79	T	C	12: 103,008,401 (GRCm39)	I256T	probably damaging	Het
Vmn2r125	G	T	4: 156,702,314 (GRCm39)	L33F	possibly damaging	Het

Other mutations in Ceacam20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01572:Ceacam20	APN	7	19,708,199 (GRCm39)	missense	probably damaging	1.00
IGL01574:Ceacam20	APN	7	19,708,247 (GRCm39)	missense	possibly damaging	0.48
IGL02407:Ceacam20	APN	7	19,704,332 (GRCm39)	missense	probably benign	0.26
IGL03035:Ceacam20	APN	7	19,711,833 (GRCm39)	critical splice donor site	probably null
R0129:Ceacam20	UTSW	7	19,710,185 (GRCm39)	missense	probably damaging	1.00
R0573:Ceacam20	UTSW	7	19,720,593 (GRCm39)	missense	probably damaging	0.97
R0616:Ceacam20	UTSW	7	19,704,321 (GRCm39)	missense	probably benign	0.01
R1016:Ceacam20	UTSW	7	19,710,227 (GRCm39)	missense	probably null
R1218:Ceacam20	UTSW	7	19,710,022 (GRCm39)	missense	probably benign	0.00
R1257:Ceacam20	UTSW	7	19,708,117 (GRCm39)	missense	probably benign	0.03
R2334:Ceacam20	UTSW	7	19,705,516 (GRCm39)	missense	probably damaging	1.00
R3051:Ceacam20	UTSW	7	19,710,110 (GRCm39)	missense	probably benign	0.33
R4184:Ceacam20	UTSW	7	19,710,041 (GRCm39)	missense	probably damaging	1.00
R4667:Ceacam20	UTSW	7	19,719,952 (GRCm39)	missense	probably damaging	1.00
R4668:Ceacam20	UTSW	7	19,719,952 (GRCm39)	missense	probably damaging	1.00
R4669:Ceacam20	UTSW	7	19,719,952 (GRCm39)	missense	probably damaging	1.00
R4953:Ceacam20	UTSW	7	19,705,651 (GRCm39)	missense	probably damaging	1.00
R5000:Ceacam20	UTSW	7	19,699,453 (GRCm39)	missense	probably damaging	0.98
R5450:Ceacam20	UTSW	7	19,712,133 (GRCm39)	missense	possibly damaging	0.94
R5561:Ceacam20	UTSW	7	19,704,318 (GRCm39)	missense	possibly damaging	0.90
R6118:Ceacam20	UTSW	7	19,705,654 (GRCm39)	missense	possibly damaging	0.90
R6414:Ceacam20	UTSW	7	19,710,056 (GRCm39)	missense	probably damaging	1.00
R6970:Ceacam20	UTSW	7	19,723,902 (GRCm39)	missense	probably damaging	1.00
R7220:Ceacam20	UTSW	7	19,701,678 (GRCm39)	missense	probably damaging	0.99
R7426:Ceacam20	UTSW	7	19,704,159 (GRCm39)	missense	probably damaging	1.00
R8159:Ceacam20	UTSW	7	19,710,109 (GRCm39)	missense	probably damaging	0.97
R8222:Ceacam20	UTSW	7	19,705,618 (GRCm39)	missense	probably benign	0.07
R8265:Ceacam20	UTSW	7	19,708,159 (GRCm39)	missense	probably damaging	1.00
R8322:Ceacam20	UTSW	7	19,705,628 (GRCm39)	missense	probably damaging	1.00
R8823:Ceacam20	UTSW	7	19,705,429 (GRCm39)	missense	probably damaging	1.00
R9325:Ceacam20	UTSW	7	19,720,607 (GRCm39)	missense	probably benign	0.00
R9367:Ceacam20	UTSW	7	19,705,533 (GRCm39)	missense	probably damaging	1.00
R9553:Ceacam20	UTSW	7	19,723,926 (GRCm39)	missense	probably damaging	1.00
Z1177:Ceacam20	UTSW	7	19,704,089 (GRCm39)	critical splice acceptor site	probably null

Posted On

2016-08-02