Mutagenetix > Incidental Mutation

Incidental Mutation 'R7981:Ccdc28a'

651226

Institutional Source

Beutler Lab

Gene Symbol

Ccdc28a

Ensembl Gene

ENSMUSG00000059554

Gene Name

coiled-coil domain containing 28A

Synonyms

1700009P13Rik

MMRRC Submission

046022-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7981 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18089424-18110746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18094127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 164 (L164P)

Ref Sequence

ENSEMBL: ENSMUSP00000050107 (fasta)

Gene Model

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

AlphaFold

Q8CEI3

Predicted Effect

probably benign
Transcript: ENSMUST00000052648
AA Change: L164P

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000050107
Gene: ENSMUSG00000059554
AA Change: L164P

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 benign
Transcript: ENSMUST00000080860

SMART Domains

Protein: ENSMUSP00000079671
Gene: ENSMUSG00000059554

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: ENSMUST00000173962

SMART Domains

Protein: ENSMUSP00000133848
Gene: ENSMUSG00000059554

Domain	Start	End	E-Value	Type
Pfam:DUF4061	1	52	9.4e-13	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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	A	3: 59,784,360 (GRCm39)	F278I	probably damaging	Het
Abca8a	T	C	11: 109,980,739 (GRCm39)	T100A	probably benign	Het
Adam34l	A	G	8: 44,078,850 (GRCm39)	F458S	probably damaging	Het
Agbl1	A	G	7: 76,094,588 (GRCm39)	T740A	unknown	Het
Aldh1a2	A	T	9: 71,171,102 (GRCm39)	I197F	probably damaging	Het
Ankrd28	T	C	14: 31,424,114 (GRCm39)	T1009A	probably benign	Het
Antxrl	T	C	14: 33,787,838 (GRCm39)	V287A	probably damaging	Het
Baiap2l1	G	A	5: 144,294,700 (GRCm39)		probably benign	Het
Catsperd	T	C	17: 56,938,562 (GRCm39)	V30A	possibly damaging	Het
Ccdc150	A	T	1: 54,407,551 (GRCm39)	K1109M	probably damaging	Het
Cnot1	C	T	8: 96,489,797 (GRCm39)	V469M	probably damaging	Het
Col16a1	T	G	4: 129,980,347 (GRCm39)		probably null	Het
Coq9	A	G	8: 95,569,285 (GRCm39)	H39R	probably benign	Het
Crh	T	A	3: 19,748,216 (GRCm39)	E142V	probably benign	Het
Depdc1a	A	G	3: 159,226,488 (GRCm39)	N265S	probably benign	Het
Dlg5	T	C	14: 24,208,213 (GRCm39)	T998A	probably benign	Het
Epg5	T	C	18: 78,052,929 (GRCm39)		probably null	Het
Gcc1	G	A	6: 28,419,140 (GRCm39)	L398F	probably benign	Het
Gde1	T	C	7: 118,288,264 (GRCm39)	T320A	probably damaging	Het
Gemin5	T	C	11: 58,036,231 (GRCm39)	D704G	probably damaging	Het
Gfi1	G	A	5: 107,873,543 (GRCm39)		probably benign	Het
Insc	A	G	7: 114,428,302 (GRCm39)	T92A	probably damaging	Het
Krtap6-2	T	C	16: 89,216,562 (GRCm39)	Y135C	unknown	Het
Lpcat2	T	C	8: 93,582,182 (GRCm39)	S34P	probably damaging	Het
Mansc1	T	C	6: 134,587,274 (GRCm39)	D301G	possibly damaging	Het
Mbl2	C	A	19: 30,216,737 (GRCm39)	T183K	probably damaging	Het
Mri1	A	C	8: 84,983,792 (GRCm39)	V33G	possibly damaging	Het
Mrps7	T	C	11: 115,497,687 (GRCm39)	M184T	possibly damaging	Het
Mug1	A	T	6: 121,858,723 (GRCm39)	Y1147F	probably damaging	Het
N4bp2	C	T	5: 65,969,485 (GRCm39)	H1416Y	probably benign	Het
Naa15	T	C	3: 51,366,092 (GRCm39)	F487S	probably damaging	Het
Nin	C	T	12: 70,089,591 (GRCm39)	V1275I		Het
Or4c116	A	G	2: 88,942,400 (GRCm39)	F152S	probably damaging	Het
Or55b3	A	T	7: 102,127,036 (GRCm39)	Y14N	probably damaging	Het
Pik3c2b	A	T	1: 133,003,547 (GRCm39)		probably null	Het
Pkn1	G	T	8: 84,407,637 (GRCm39)	N463K	probably damaging	Het
Pramel24	T	G	4: 143,453,452 (GRCm39)	F187V	probably benign	Het
Rab11fip3	C	T	17: 26,216,963 (GRCm39)	S816N	probably damaging	Het
Rassf4	G	T	6: 116,617,218 (GRCm39)	D262E	probably damaging	Het
Sec16a	A	G	2: 26,311,384 (GRCm39)		probably null	Het
Sspo	A	G	6: 48,445,428 (GRCm39)	T2290A	probably benign	Het
Sumf1	A	G	6: 108,129,186 (GRCm39)		probably null	Het
Syne1	T	C	10: 5,179,248 (GRCm39)	K4409E	probably benign	Het
Tasor	T	C	14: 27,168,373 (GRCm39)	V305A	possibly damaging	Het
Tmco4	T	G	4: 138,785,772 (GRCm39)	L614R	probably damaging	Het
Tmem67	G	T	4: 12,070,592 (GRCm39)	N245K	probably damaging	Het
Trim58	T	C	11: 58,542,138 (GRCm39)	V366A	probably benign	Het
Vmn1r123	T	C	7: 20,896,914 (GRCm39)	S269P	probably damaging	Het
Vmn2r91	T	A	17: 18,327,887 (GRCm39)	S494T	probably benign	Het
Zbtb26	T	A	2: 37,326,887 (GRCm39)	I50L	possibly damaging	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
R5704:Ccdc28a	UTSW	10	18,106,320 (GRCm39)	missense	probably damaging	1.00
R6216:Ccdc28a	UTSW	10	18,100,719 (GRCm39)	nonsense	probably null
R7905:Ccdc28a	UTSW	10	18,094,076 (GRCm39)	missense	probably benign	0.12
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'- TTCGCGTGCGCATCATTTG -3'
(R):5'- AAGTTTTCTCCTGCGCACAC -3'

Sequencing Primer
(F):5'- CTCCTCGAGTGCTGAGATCATAG -3'
(R):5'- CATAGTGGATTGGGGCCAGC -3'

Posted On

2020-09-15