Mutagenetix > Incidental Mutation

Incidental Mutation 'R8958:Ccdc28a'

682173

Institutional Source

Beutler Lab

Gene Symbol

Ccdc28a

Ensembl Gene

ENSMUSG00000059554

Gene Name

coiled-coil domain containing 28A

Synonyms

1700009P13Rik

MMRRC Submission

068794-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8958 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18089424-18110746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18089926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 113 (I113M)

Ref Sequence

ENSEMBL: ENSMUSP00000133585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052648] [ENSMUST00000080860] [ENSMUST00000095817] [ENSMUST00000173243] [ENSMUST00000174592]

AlphaFold

Q8CEI3

Predicted Effect

probably benign
Transcript: ENSMUST00000052648

SMART Domains

Protein: ENSMUSP00000050107
Gene: ENSMUSG00000059554

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
AA Change: I167M

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000079671
Gene: ENSMUSG00000059554
AA Change: I167M

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: ENSMUST00000095817

SMART Domains

Protein: ENSMUSP00000093497
Gene: ENSMUSG00000071392

Domain	Start	End	E-Value	Type
FBOX	93	133	3.5e-4	SMART
Pfam:DUF4347	297	468	1.4e-11	PFAM
RhoGEF	578	761	6.3e-46	SMART
Blast:PH	793	909	6e-49	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173243
AA Change: I113M

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000133585
Gene: ENSMUSG00000059554
AA Change: I113M

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
AA Change: I120M

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000134307
Gene: ENSMUSG00000059554
AA Change: I120M

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: 99.4%
20x: 97.8%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	T	12: 21,399,934 (GRCm39)	N157K	possibly damaging	Het
Adck2	T	C	6: 39,560,848 (GRCm39)	V412A	probably benign	Het
Adgrb3	C	T	1: 25,865,190 (GRCm39)	V11I	possibly damaging	Het
Arhgef17	T	C	7: 100,579,019 (GRCm39)	D643G	probably damaging	Het
Arvcf	A	G	16: 18,221,376 (GRCm39)	Q597R	probably damaging	Het
Brdt	T	C	5: 107,525,877 (GRCm39)	V910A	probably benign	Het
Cachd1	A	G	4: 100,851,283 (GRCm39)	D1167G	probably benign	Het
Ccdc187	A	C	2: 26,165,577 (GRCm39)	S860A	probably benign	Het
Cdc5l	T	C	17: 45,704,127 (GRCm39)	N699S	probably benign	Het
Cenpf	A	T	1: 189,385,350 (GRCm39)	I2310K	possibly damaging	Het
Ch25h	A	T	19: 34,452,414 (GRCm39)	I38N	probably benign	Het
Chrdl2	C	A	7: 99,670,129 (GRCm39)	P84Q	probably damaging	Het
Cltc	A	T	11: 86,586,403 (GRCm39)	Y1673N	possibly damaging	Het
Cr1l	C	G	1: 194,812,243 (GRCm39)	G27R	probably damaging	Het
Crebbp	G	A	16: 4,031,172 (GRCm39)		probably benign	Het
Dync1h1	G	A	12: 110,586,805 (GRCm39)	E929K	probably benign	Het
E2f7	C	A	10: 110,601,615 (GRCm39)	P324Q	probably damaging	Het
Eif3b	A	G	5: 140,411,194 (GRCm39)	D215G	probably benign	Het
Ephb1	A	G	9: 102,072,614 (GRCm39)	I55T	probably damaging	Het
Fbxw14	A	T	9: 109,107,810 (GRCm39)	L188Q	probably damaging	Het
Foxg1	T	C	12: 49,431,944 (GRCm39)	S226P	probably damaging	Het
Gbe1	T	C	16: 70,275,210 (GRCm39)	F337L	probably damaging	Het
Glg1	A	T	8: 111,899,116 (GRCm39)	C716*	probably null	Het
Gp1ba	C	G	11: 70,531,730 (GRCm39)		probably benign	Het
Grm7	C	T	6: 111,472,783 (GRCm39)	S36L	probably damaging	Het
H2-M5	T	A	17: 37,299,520 (GRCm39)	I167F	probably damaging	Het
H3c6	T	C	13: 23,746,421 (GRCm39)	H40R	possibly damaging	Het
Hycc1	A	G	5: 24,169,934 (GRCm39)	C472R	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ino80	C	T	2: 119,213,862 (GRCm39)	R1236H	probably damaging	Het
Ism1	T	A	2: 139,573,995 (GRCm39)	I115N	possibly damaging	Het
Kdm4a	A	G	4: 117,999,573 (GRCm39)	S950P	probably benign	Het
Lama5	T	C	2: 179,835,592 (GRCm39)	T1254A	probably benign	Het
Lipo2	T	A	19: 33,698,361 (GRCm39)	K339*	probably null	Het
Lrrc7	T	C	3: 157,946,138 (GRCm39)	K187R	probably benign	Het
Mkrn2os	G	C	6: 115,562,317 (GRCm39)	S215R	probably benign	Het
Myzap	G	T	9: 71,457,485 (GRCm39)	D303E	possibly damaging	Het
Naa11	T	C	5: 97,540,084 (GRCm39)	N25D	probably damaging	Het
Naip5	T	A	13: 100,354,117 (GRCm39)	K1149*	probably null	Het
Obscn	C	T	11: 58,964,158 (GRCm39)	V3083M	probably damaging	Het
Or10d1	T	C	9: 39,484,091 (GRCm39)	T155A	probably benign	Het
Or4k48	T	C	2: 111,476,070 (GRCm39)	T91A	possibly damaging	Het
Parn	T	A	16: 13,466,322 (GRCm39)	E241D	possibly damaging	Het
Pax1	T	A	2: 147,210,517 (GRCm39)		probably null	Het
Pclo	A	T	5: 14,725,369 (GRCm39)	E1409V	unknown	Het
Pclo	A	G	5: 14,763,056 (GRCm39)	Y3843C	unknown	Het
Ppp2r3d	A	T	9: 101,088,634 (GRCm39)	M563K	probably benign	Het
Prdm1	T	G	10: 44,316,729 (GRCm39)	K623Q	probably damaging	Het
Ptpn13	T	C	5: 103,698,973 (GRCm39)	V1152A	probably benign	Het
Ptx3	G	A	3: 66,128,391 (GRCm39)	A151T	probably benign	Het
Rab11fip1	T	C	8: 27,644,940 (GRCm39)	S282G	possibly damaging	Het
Ros1	G	T	10: 51,972,190 (GRCm39)	N1641K	probably damaging	Het
Syne1	T	C	10: 5,181,768 (GRCm39)	K4189R	probably benign	Het
Tcf3	T	C	10: 80,246,091 (GRCm39)	K611E	probably damaging	Het
Tmem215	A	G	4: 40,474,376 (GRCm39)	Q151R	probably benign	Het
Trappc8	T	C	18: 21,003,667 (GRCm39)	I254V	probably benign	Het
Trim46	T	C	3: 89,143,760 (GRCm39)	D556G	probably damaging	Het
Wdr97	A	T	15: 76,245,694 (GRCm39)	E1310D		Het
Zfp513	C	A	5: 31,356,825 (GRCm39)	R487L	probably damaging	Het
Zmpste24	C	A	4: 120,944,508 (GRCm39)	E97*	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
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
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'- TGGATTACAGCGAGCACGTG -3'
(R):5'- TCATCGGCATAGCATAACTCTC -3'

Sequencing Primer
(F):5'- CGAGCACGTGGACGAAAGC -3'
(R):5'- GGCATAGCATAACTCTCTACACTGGG -3'

Posted On

2021-08-31