Mutagenetix > Incidental Mutation

Incidental Mutation 'R5704:Ccdc28a'

451866

Institutional Source

Beutler Lab

Gene Symbol

Ccdc28a

Ensembl Gene

ENSMUSG00000059554

Gene Name

coiled-coil domain containing 28A

Synonyms

1700009P13Rik

MMRRC Submission

043329-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5704 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18089424-18110746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18106320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 2 (E2V)

Ref Sequence

ENSEMBL: ENSMUSP00000050107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052648] [ENSMUST00000080860] [ENSMUST00000173243] [ENSMUST00000174592]

AlphaFold

Q8CEI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000052648
AA Change: E2V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050107
Gene: ENSMUSG00000059554
AA Change: E2V

Domain	Start	End	E-Value	Type
low complexity region	56	68	N/A	INTRINSIC
Pfam:DUF4061	83	173	6.8e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000080860
AA Change: E2V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079671
Gene: ENSMUSG00000059554
AA Change: E2V

Domain	Start	End	E-Value	Type
low complexity region	56	68	N/A	INTRINSIC
Pfam:DUF4061	82	169	2.1e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173243

SMART Domains

Protein: ENSMUSP00000133585
Gene: ENSMUSG00000059554

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
Pfam:DUF4061	28	115	1.3e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174592

SMART Domains

Protein: ENSMUSP00000134307
Gene: ENSMUSG00000059554

Domain	Start	End	E-Value	Type
low complexity region	9	21	N/A	INTRINSIC
Pfam:DUF4061	35	122	9.2e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181897

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216248

Meta Mutation Damage Score

0.1689

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (85/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil domain containing protein. Although the specific function of this gene has not yet been determined, this gene is a known translocation partner of nucleoporin 98 in acute leukemias. The resulting fusion gene produces a nucleoporin 98-coiled-coil domain-containing protein 28A chimeric protein which may be involved in promoting myeloproliferative neoplasms. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	G	A	5: 105,116,036 (GRCm39)	A266V	probably damaging	Het
Acad10	A	G	5: 121,769,606 (GRCm39)	S617P	probably benign	Het
Ahi1	A	C	10: 20,950,326 (GRCm39)	M126L	probably benign	Het
Alk	T	C	17: 72,910,115 (GRCm39)	E197G	probably damaging	Het
Alyref2	A	T	1: 171,331,547 (GRCm39)	Y108F	probably damaging	Het
Ankrd26	T	G	6: 118,500,843 (GRCm39)	H876P	probably damaging	Het
Arfgef1	T	C	1: 10,229,808 (GRCm39)	T1298A	probably damaging	Het
Arhgap33	T	A	7: 30,219,045 (GRCm39)		probably benign	Het
Arhgef17	A	G	7: 100,530,548 (GRCm39)	S1413P	probably damaging	Het
Arid1a	A	T	4: 133,409,050 (GRCm39)	V1819E	unknown	Het
Asprv1	A	G	6: 86,605,532 (GRCm39)	N126S	probably damaging	Het
Atg16l2	T	C	7: 100,949,418 (GRCm39)	Y43C	probably damaging	Het
Atp13a3	G	T	16: 30,140,697 (GRCm39)	T1160K	probably benign	Het
Atp1a3	T	C	7: 24,696,736 (GRCm39)	T272A	probably damaging	Het
Bpifa3	G	T	2: 153,979,562 (GRCm39)		probably null	Het
Bri3	T	C	5: 144,192,716 (GRCm39)	V80A	probably damaging	Het
Ccdc7a	T	A	8: 129,706,577 (GRCm39)		probably benign	Het
Cds2	G	A	2: 132,135,249 (GRCm39)	V47I	probably benign	Het
Cela2a	G	A	4: 141,553,299 (GRCm39)		probably benign	Het
Ckap5	A	G	2: 91,406,548 (GRCm39)	Y783C	probably damaging	Het
Cmtr1	G	C	17: 29,882,217 (GRCm39)	A23P	possibly damaging	Het
Crym	C	A	7: 119,801,163 (GRCm39)		probably null	Het
Def6	T	G	17: 28,447,200 (GRCm39)	D610E	probably benign	Het
Dnajc15	T	C	14: 78,063,898 (GRCm39)	Y130C	probably damaging	Het
Dock8	G	A	19: 25,151,586 (GRCm39)	V1560I	probably damaging	Het
Eif4g3	T	C	4: 137,918,003 (GRCm39)	V1501A	probably damaging	Het
Esyt1	A	G	10: 128,347,379 (GRCm39)	S1049P	probably damaging	Het
Gm4952	G	T	19: 12,604,275 (GRCm39)	R229L	probably damaging	Het
Golga5	T	A	12: 102,455,707 (GRCm39)	H548Q	probably benign	Het
Gspt1	A	T	16: 11,046,057 (GRCm39)	D449E	possibly damaging	Het
Gtf3c2	T	A	5: 31,316,454 (GRCm39)	D732V	probably damaging	Het
Hax1	T	A	3: 89,903,403 (GRCm39)	Q168L	probably damaging	Het
Hectd2	T	A	19: 36,576,291 (GRCm39)	S91T	possibly damaging	Het
Igfbp2	T	A	1: 72,891,303 (GRCm39)	H300Q	probably benign	Het
Il12rb2	T	C	6: 67,269,197 (GRCm39)	N538S	possibly damaging	Het
Insr	G	A	8: 3,235,122 (GRCm39)	P124L	possibly damaging	Het
Irak3	C	A	10: 119,981,594 (GRCm39)	R437L	probably benign	Het
Jhy	C	T	9: 40,808,734 (GRCm39)	V676I	probably damaging	Het
Kcns3	G	A	12: 11,142,328 (GRCm39)	R124C	probably benign	Het
Lactb	G	A	9: 66,863,058 (GRCm39)	R519*	probably null	Het
Mdfic	G	A	6: 15,770,291 (GRCm39)	G94D	probably damaging	Het
Mospd3	A	G	5: 137,598,613 (GRCm39)	V42A	possibly damaging	Het
Mov10	A	G	3: 104,706,912 (GRCm39)	V666A	probably benign	Het
Mucl1	T	C	15: 103,785,663 (GRCm39)	I15V	probably benign	Het
Mug1	T	A	6: 121,828,392 (GRCm39)	V268D	possibly damaging	Het
Myo5c	T	A	9: 75,180,185 (GRCm39)	S709T	probably benign	Het
Nol11	T	A	11: 107,064,195 (GRCm39)	E519V	probably benign	Het
Nrp2	A	T	1: 62,824,267 (GRCm39)	I791L	probably benign	Het
Nudt19	A	G	7: 35,250,972 (GRCm39)	Y256H	probably benign	Het
Nudt8	C	T	19: 4,050,777 (GRCm39)	R42C	probably damaging	Het
Or5ac16	A	G	16: 59,022,369 (GRCm39)	L140P	probably damaging	Het
Or6c213	T	A	10: 129,574,685 (GRCm39)	I34F	probably benign	Het
Pcdhga12	A	G	18: 37,900,422 (GRCm39)	Y418C	probably damaging	Het
Pds5a	A	G	5: 65,784,422 (GRCm39)		probably null	Het
Pdzd2	T	C	15: 12,385,761 (GRCm39)	D1003G	probably benign	Het
Pglyrp4	T	A	3: 90,647,581 (GRCm39)		probably null	Het
Phip	T	C	9: 82,753,408 (GRCm39)	N1779D	probably damaging	Het
Postn	G	T	3: 54,279,527 (GRCm39)	C335F	probably damaging	Het
Ppp4r3a	T	C	12: 101,049,619 (GRCm39)		probably benign	Het
Prrt2	C	T	7: 126,618,590 (GRCm39)	V292M	probably damaging	Het
Rpl18	T	C	7: 45,370,146 (GRCm39)	V138A	possibly damaging	Het
Rps14	G	A	18: 60,910,205 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,533,956 (GRCm39)		probably null	Het
Siah2	T	G	3: 58,583,821 (GRCm39)	K155T	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc25a39	T	A	11: 102,294,220 (GRCm39)		probably benign	Het
Slco1a7	T	C	6: 141,658,980 (GRCm39)	M539V	probably benign	Het
Smok2b	T	A	17: 13,455,231 (GRCm39)	C464S	probably damaging	Het
Spata31	G	A	13: 65,069,855 (GRCm39)	V668I	probably benign	Het
Tbxas1	C	A	6: 38,998,067 (GRCm39)	H212N	probably benign	Het
Tenm1	A	G	X: 42,163,572 (GRCm39)	V107A	possibly damaging	Het
Thada	C	T	17: 84,538,329 (GRCm39)	A1560T	probably benign	Het
Tmem241	G	C	18: 12,197,263 (GRCm39)	F65L	probably damaging	Het
Ttc16	C	G	2: 32,659,137 (GRCm39)	E321Q	probably damaging	Het
Ttn	A	T	2: 76,748,929 (GRCm39)	L4040H	possibly damaging	Het
Tyw1	G	A	5: 130,310,863 (GRCm39)	W437*	probably null	Het
Unc79	T	A	12: 102,968,202 (GRCm39)	Y143N	probably damaging	Het
Urb2	C	T	8: 124,764,921 (GRCm39)	R1310W	probably damaging	Het
Vmn2r4	T	C	3: 64,317,370 (GRCm39)	I34V	probably benign	Het
Zfp513	C	T	5: 31,358,010 (GRCm39)	C121Y	possibly damaging	Het
Zfp606	T	G	7: 12,227,456 (GRCm39)	W468G	probably damaging	Het
Zfyve16	C	T	13: 92,640,979 (GRCm39)		probably null	Het

Other mutations in Ccdc28a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Ccdc28a	APN	10	18,106,261 (GRCm39)	missense	possibly damaging	0.85
IGL01806:Ccdc28a	APN	10	18,095,262 (GRCm39)	missense	possibly damaging	0.62
IGL02403:Ccdc28a	APN	10	18,089,931 (GRCm39)	splice site	probably benign
IGL02547:Ccdc28a	APN	10	18,089,894 (GRCm39)	missense	possibly damaging	0.67
R0139:Ccdc28a	UTSW	10	18,106,188 (GRCm39)	missense	possibly damaging	0.92
R0608:Ccdc28a	UTSW	10	18,100,699 (GRCm39)	missense	probably damaging	1.00
R2157:Ccdc28a	UTSW	10	18,106,203 (GRCm39)	missense	probably benign	0.13
R3861:Ccdc28a	UTSW	10	18,100,743 (GRCm39)	missense	probably damaging	1.00
R4254:Ccdc28a	UTSW	10	18,100,683 (GRCm39)	missense	probably damaging	1.00
R5621:Ccdc28a	UTSW	10	18,092,016 (GRCm39)	missense	probably benign	0.13
R6216:Ccdc28a	UTSW	10	18,100,719 (GRCm39)	nonsense	probably null
R7905:Ccdc28a	UTSW	10	18,094,076 (GRCm39)	missense	probably benign	0.12
R7981:Ccdc28a	UTSW	10	18,094,127 (GRCm39)	missense	probably benign	0.03
R8958:Ccdc28a	UTSW	10	18,089,926 (GRCm39)	missense	probably benign	0.07
R9111:Ccdc28a	UTSW	10	18,100,750 (GRCm39)	missense	possibly damaging	0.74
R9363:Ccdc28a	UTSW	10	18,094,050 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGCCTCTGCATCAGCTC -3'
(R):5'- ATAACTCCAGCTGTGTCAAGTT -3'

Sequencing Primer
(F):5'- CTTGTGCAGGAATAGAAACCCTGAC -3'
(R):5'- GTCAAGTTGACACAAAACTAGCCAG -3'

Posted On

2017-01-03