Mutagenetix > Incidental Mutation

Incidental Mutation 'R6041:Calcoco1'

483579

Institutional Source

Beutler Lab

Gene Symbol

Calcoco1

Ensembl Gene

ENSMUSG00000023055

Gene Name

calcium binding and coiled coil domain 1

Synonyms

1810009B06Rik, Gcap11, CoCoA

MMRRC Submission

044209-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.452) question?

Stock #

R6041 (G1)

Quality Score

200.009

Status

Validated

Chromosome

Chromosomal Location

102615212-102630613 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 102626374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 105 (R105L)

Ref Sequence

ENSEMBL: ENSMUSP00000023818 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023818] [ENSMUST00000171838] [ENSMUST00000229231] [ENSMUST00000229398] [ENSMUST00000230035]

AlphaFold

Q8CGU1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023818
AA Change: R105L

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023818
Gene: ENSMUSG00000023055
AA Change: R105L

Domain	Start	End	E-Value	Type
Pfam:CALCOCO1	13	598	6.8e-241	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166943

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171838
AA Change: R105L

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130170
Gene: ENSMUSG00000023055
AA Change: R105L

Domain	Start	End	E-Value	Type
Pfam:CALCOCO1	9	596	6.6e-273	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229231

Predicted Effect

probably benign
Transcript: ENSMUST00000229398

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230035
AA Change: R98L

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230374

Meta Mutation Damage Score

0.0758

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.1%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,595,354 (GRCm39)	M297K	probably damaging	Het
Ace	A	C	11: 105,866,134 (GRCm39)	H34P	probably benign	Het
Agbl2	A	T	2: 90,638,371 (GRCm39)	N652I	probably benign	Het
Auh	T	A	13: 53,073,122 (GRCm39)	L86F	possibly damaging	Het
Bmp10	A	G	6: 87,411,302 (GRCm39)	K365R	probably damaging	Het
Cacna1d	A	T	14: 29,764,314 (GRCm39)	S2086T	probably damaging	Het
Casc3	T	G	11: 98,719,385 (GRCm39)	V509G	probably damaging	Het
Clmn	A	G	12: 104,748,131 (GRCm39)	V472A	probably benign	Het
Cyp2b19	A	T	7: 26,458,852 (GRCm39)	S142C	probably damaging	Het
Derl3	T	C	10: 75,729,335 (GRCm39)	L26P	probably damaging	Het
Dgkh	C	T	14: 78,825,067 (GRCm39)	A863T	probably damaging	Het
Dhx30	C	T	9: 109,913,666 (GRCm39)	R1127Q	probably benign	Het
Dmxl2	A	G	9: 54,324,037 (GRCm39)	S1116P	probably damaging	Het
Dnah7b	T	C	1: 46,328,805 (GRCm39)	V3179A	probably benign	Het
Dnajb11	A	T	16: 22,687,471 (GRCm39)	N156I	probably benign	Het
Dpep1	A	T	8: 123,927,394 (GRCm39)	E316V	probably damaging	Het
Entrep1	A	T	19: 23,962,193 (GRCm39)	M270K	probably benign	Het
F2rl2	T	A	13: 95,837,617 (GRCm39)	F221I	probably benign	Het
Flg2	T	A	3: 93,127,668 (GRCm39)	D173E	probably benign	Het
Fshr	A	T	17: 89,293,414 (GRCm39)	D421E	probably damaging	Het
Gfm2	T	A	13: 97,309,131 (GRCm39)	V612E	probably benign	Het
Gm17655	T	G	5: 110,195,439 (GRCm39)	K114N	possibly damaging	Het
Gm45844	C	A	7: 7,281,183 (GRCm39)		probably benign	Het
Gpr142	A	T	11: 114,697,203 (GRCm39)	I250F	probably damaging	Het
Hexa	A	G	9: 59,470,519 (GRCm39)	Q447R	probably damaging	Het
Leng8	T	C	7: 4,148,568 (GRCm39)	L780P	probably benign	Het
Lrrk1	T	C	7: 65,911,881 (GRCm39)	D1893G	probably benign	Het
Macf1	T	A	4: 123,407,641 (GRCm39)	I139F	probably damaging	Het
Megf10	A	T	18: 57,313,621 (GRCm39)	T22S	probably benign	Het
Mup-ps1	C	A	4: 60,088,549 (GRCm39)		noncoding transcript	Het
Myh13	A	T	11: 67,255,556 (GRCm39)	E1642V	probably damaging	Het
Myof	A	G	19: 37,913,068 (GRCm39)	Y1462H	probably damaging	Het
Nipbl	T	A	15: 8,353,748 (GRCm39)	D1765V	probably damaging	Het
Npy5r	A	T	8: 67,134,675 (GRCm39)	N39K	possibly damaging	Het
Or5m13b	G	A	2: 85,753,735 (GRCm39)	G41D	probably damaging	Het
Pax6	A	G	2: 105,514,247 (GRCm39)	I29V	probably damaging	Het
Pi4ka	A	G	16: 17,178,436 (GRCm39)	Y307H	probably benign	Het
Pmf1	A	C	3: 88,303,358 (GRCm39)	Y68D	probably damaging	Het
Psen2	C	A	1: 180,073,292 (GRCm39)	E10*	probably null	Het
Ptprs	T	A	17: 56,726,080 (GRCm39)	M991L	probably benign	Het
R3hdm4	A	G	10: 79,749,495 (GRCm39)	V20A	possibly damaging	Het
Rad17	T	C	13: 100,754,274 (GRCm39)	N649D	probably benign	Het
Rad9b	A	T	5: 122,489,415 (GRCm39)	C38S	probably damaging	Het
Rapgef2	T	C	3: 78,976,469 (GRCm39)	M1296V	probably benign	Het
Rbp3	T	C	14: 33,678,439 (GRCm39)	S796P	probably damaging	Het
Rpl10-ps3	A	G	9: 50,256,082 (GRCm39)	S54P	probably benign	Het
Sclt1	T	A	3: 41,581,612 (GRCm39)	I688F	probably damaging	Het
Scn10a	A	G	9: 119,438,535 (GRCm39)	I1778T	probably damaging	Het
Scrib	C	T	15: 75,939,021 (GRCm39)	R159Q	possibly damaging	Het
Senp1	C	T	15: 97,956,097 (GRCm39)	E441K	probably damaging	Het
Sipa1l1	T	A	12: 82,389,024 (GRCm39)	F417I	probably damaging	Het
Slco1a7	A	C	6: 141,684,764 (GRCm39)	D230E	probably benign	Het
Smcr8	A	G	11: 60,670,394 (GRCm39)	D514G	probably damaging	Het
Tbc1d23	T	G	16: 56,993,513 (GRCm39)	D551A	probably benign	Het
Tet1	G	T	10: 62,649,152 (GRCm39)	T149N	probably damaging	Het
Them4	A	T	3: 94,224,806 (GRCm39)	D61V	possibly damaging	Het
Trak1	A	T	9: 121,289,478 (GRCm39)	I597F	probably damaging	Het
Trank1	A	G	9: 111,206,864 (GRCm39)	I1666V	possibly damaging	Het
Vipr2	A	C	12: 116,106,604 (GRCm39)	N378T	probably damaging	Het
Zfp804b	T	C	5: 6,821,231 (GRCm39)	R575G	probably benign	Het
Zfp941	A	T	7: 140,392,158 (GRCm39)	C400*	probably null	Het
Zswim5	A	C	4: 116,819,818 (GRCm39)	S408R	probably benign	Het

Other mutations in Calcoco1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02616:Calcoco1	APN	15	102,624,285 (GRCm39)	missense	probably damaging	1.00
R0329:Calcoco1	UTSW	15	102,624,198 (GRCm39)	missense	probably benign	0.00
R0330:Calcoco1	UTSW	15	102,624,198 (GRCm39)	missense	probably benign	0.00
R1723:Calcoco1	UTSW	15	102,627,988 (GRCm39)	missense	probably damaging	1.00
R1815:Calcoco1	UTSW	15	102,622,358 (GRCm39)	missense	probably damaging	1.00
R3879:Calcoco1	UTSW	15	102,615,823 (GRCm39)	missense	probably damaging	1.00
R4086:Calcoco1	UTSW	15	102,618,834 (GRCm39)	splice site	probably benign
R4445:Calcoco1	UTSW	15	102,624,175 (GRCm39)	critical splice donor site	probably null
R4677:Calcoco1	UTSW	15	102,626,329 (GRCm39)	missense	probably damaging	1.00
R5068:Calcoco1	UTSW	15	102,619,527 (GRCm39)	missense	probably damaging	1.00
R5069:Calcoco1	UTSW	15	102,619,527 (GRCm39)	missense	probably damaging	1.00
R5279:Calcoco1	UTSW	15	102,619,420 (GRCm39)	missense	probably damaging	1.00
R5756:Calcoco1	UTSW	15	102,628,086 (GRCm39)	missense	probably benign	0.00
R6808:Calcoco1	UTSW	15	102,618,875 (GRCm39)	missense	probably damaging	0.97
R7748:Calcoco1	UTSW	15	102,627,996 (GRCm39)	missense	probably damaging	1.00
R7854:Calcoco1	UTSW	15	102,627,991 (GRCm39)	missense	possibly damaging	0.77
R8098:Calcoco1	UTSW	15	102,624,759 (GRCm39)	missense	probably benign
R8258:Calcoco1	UTSW	15	102,624,228 (GRCm39)	missense	probably damaging	1.00
R8259:Calcoco1	UTSW	15	102,624,228 (GRCm39)	missense	probably damaging	1.00
R9050:Calcoco1	UTSW	15	102,618,400 (GRCm39)	missense	probably damaging	1.00
R9496:Calcoco1	UTSW	15	102,619,876 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AATGCTGTCCTTGGTGTCCC -3'
(R):5'- GTGCCAGCTAGAGTCAATGTG -3'

Sequencing Primer
(F):5'- CTGGCCCTGGAACAAGTCTG -3'
(R):5'- CCAGCTAGAGTCAATGTGATGAAG -3'

Posted On

2017-07-14