Mutagenetix > Incidental Mutation

Incidental Mutation 'R9363:Ccdc28a'

708791

Institutional Source

Beutler Lab

Gene Symbol

Ccdc28a

Ensembl Gene

ENSMUSG00000059554

Gene Name

coiled-coil domain containing 28A

Synonyms

1700009P13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9363 (G1)

Quality Score

169.009

Status

Validated

Chromosome

Chromosomal Location

18089424-18110746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 18094050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 190 (D190N)

Ref Sequence

ENSEMBL: ENSMUSP00000050107 (fasta)

Gene Model

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

AlphaFold

Q8CEI3

Predicted Effect

unknown
Transcript: ENSMUST00000052648
AA Change: D190N

SMART Domains

Protein: ENSMUSP00000050107
Gene: ENSMUSG00000059554
AA Change: D190N

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

Meta Mutation Damage Score

0.0852

Coding Region Coverage

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

Validation Efficiency

100% (40/40)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	A	16: 56,438,575 (GRCm39)		probably null	Het
Alkbh1	A	T	12: 87,487,080 (GRCm39)	Y96*	probably null	Het
Alkbh8	T	A	9: 3,385,576 (GRCm39)	C658S	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Blm	T	C	7: 80,108,663 (GRCm39)	Y1327C	probably damaging	Het
Chdh	A	G	14: 29,753,310 (GRCm39)	E73G	probably damaging	Het
Dab2	C	T	15: 6,460,481 (GRCm39)	P463L	probably benign	Het
Dcun1d2	A	G	8: 13,309,014 (GRCm39)	Y184H	probably benign	Het
Dst	T	C	1: 34,235,060 (GRCm39)	L3535P	probably damaging	Het
Egr3	A	G	14: 70,316,761 (GRCm39)	I153V	possibly damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Hcfc2	C	T	10: 82,574,258 (GRCm39)	P144L	probably damaging	Het
Jkampl	T	A	6: 73,446,487 (GRCm39)	I21F	possibly damaging	Het
Mdc1	C	A	17: 36,162,019 (GRCm39)	Q942K	probably benign	Het
Med15	C	T	16: 17,489,414 (GRCm39)	V387I	unknown	Het
Muc4	C	T	16: 32,576,992 (GRCm39)	S94L		Het
Or5ak23	T	A	2: 85,244,993 (GRCm39)	I77F	probably damaging	Het
Otud3	G	T	4: 138,623,133 (GRCm39)	N369K	probably benign	Het
Parp14	C	T	16: 35,678,586 (GRCm39)	E461K	possibly damaging	Het
Paxbp1	T	A	16: 90,827,395 (GRCm39)	Q480L	probably damaging	Het
Polr3a	G	A	14: 24,500,831 (GRCm39)	A1319V	probably damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Prkg2	A	T	5: 99,172,257 (GRCm39)	S153T	probably benign	Het
Scara3	T	C	14: 66,168,720 (GRCm39)	D299G	probably benign	Het
Scube1	C	A	15: 83,499,080 (GRCm39)	E712*	probably null	Het
Setd4	T	A	16: 93,388,009 (GRCm39)	E159V	probably benign	Het
Slc15a2	T	A	16: 36,572,672 (GRCm39)	I670F	possibly damaging	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Smok2b	G	A	17: 13,453,637 (GRCm39)		probably null	Het
Snx18	G	A	13: 113,754,732 (GRCm39)	P67L	probably benign	Het
St3gal5	A	T	6: 72,119,301 (GRCm39)	K165*	probably null	Het
Sun5	A	G	2: 153,700,365 (GRCm39)	I294T	probably benign	Het
Svil	A	G	18: 5,037,155 (GRCm39)	K37E	probably benign	Het
Tmem104	T	C	11: 115,134,691 (GRCm39)	I409T	probably benign	Het
Tnxb	T	C	17: 34,917,294 (GRCm39)	Y2230H	possibly damaging	Het
Trps1	A	G	15: 50,524,676 (GRCm39)	S1085P	probably damaging	Het
Ttn	A	T	2: 76,612,592 (GRCm39)	N17162K	probably damaging	Het
Ugt1a7c	T	A	1: 88,023,616 (GRCm39)	F258L	probably damaging	Het
Vmn2r102	C	T	17: 19,897,614 (GRCm39)	H210Y	probably benign	Het
Vmn2r75	A	T	7: 85,815,423 (GRCm39)	V147E	probably benign	Het
Zhx3	G	A	2: 160,621,785 (GRCm39)	A794V	probably benign	Het
Zscan2	A	G	7: 80,525,331 (GRCm39)	T351A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GTTCGCGTGCGCATCATTTG -3'
(R):5'- AAGTTTTCTCCTGCGCACAC -3'

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

Posted On

2022-04-18