Mutagenetix > Incidental Mutation

Incidental Mutation 'R2983:Rccd1'

257122

Institutional Source

Beutler Lab

Gene Symbol

Rccd1

Ensembl Gene

ENSMUSG00000038930

Gene Name

RCC1 domain containing 1

Synonyms

E430018M08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2983 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79944339-79974512 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 79970276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 114 (Q114*)

Ref Sequence

ENSEMBL: ENSMUSP00000113273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032748] [ENSMUST00000047362] [ENSMUST00000047558] [ENSMUST00000107368] [ENSMUST00000121882] [ENSMUST00000123189] [ENSMUST00000174199] [ENSMUST00000173824] [ENSMUST00000163812] [ENSMUST00000174172] [ENSMUST00000154428]

AlphaFold

Q8BTU7

Predicted Effect

probably benign
Transcript: ENSMUST00000032748

SMART Domains

Protein: ENSMUSP00000032748
Gene: ENSMUSG00000030533

Domain	Start	End	E-Value	Type
TPR	21	54	9.53e-2	SMART
TPR	58	91	5.48e-2	SMART
TPR	92	125	7.45e-4	SMART
Blast:ARM	183	224	6e-9	BLAST
Blast:ARM	226	266	1e-7	BLAST
Pfam:UNC45-central	287	505	1.2e-43	PFAM
Blast:ARM	679	717	4e-13	BLAST
Blast:ARM	720	762	4e-12	BLAST
Blast:ARM	764	804	8e-16	BLAST
low complexity region	833	845	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000047362
AA Change: Q114*

SMART Domains

Protein: ENSMUSP00000048043
Gene: ENSMUSG00000038930
AA Change: Q114*

Domain	Start	End	E-Value	Type
low complexity region	10	18	N/A	INTRINSIC
Pfam:RCC1	179	228	2.9e-17	PFAM
Pfam:RCC1_2	215	244	1.3e-10	PFAM
Pfam:RCC1	231	316	7.8e-9	PFAM
Pfam:RCC1_2	303	332	3.3e-10	PFAM
Pfam:RCC1	319	370	4.1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000047558

SMART Domains

Protein: ENSMUSP00000043379
Gene: ENSMUSG00000038943

Domain	Start	End	E-Value	Type
internal_repeat_1	22	36	1.45e-5	PROSPERO
Pfam:MAP65_ASE1	37	602	5.3e-172	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107368

SMART Domains

Protein: ENSMUSP00000102991
Gene: ENSMUSG00000030533

Domain	Start	End	E-Value	Type
TPR	21	54	9.53e-2	SMART
TPR	58	91	5.48e-2	SMART
TPR	92	125	7.45e-4	SMART
Blast:ARM	183	224	6e-9	BLAST
Blast:ARM	226	266	1e-7	BLAST
Pfam:UNC45-central	314	505	2.4e-38	PFAM
Blast:ARM	679	717	4e-13	BLAST
Blast:ARM	720	762	4e-12	BLAST
Blast:ARM	764	804	8e-16	BLAST
low complexity region	833	845	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000121882
AA Change: Q114*

SMART Domains

Protein: ENSMUSP00000113273
Gene: ENSMUSG00000038930
AA Change: Q114*

Domain	Start	End	E-Value	Type
low complexity region	10	18	N/A	INTRINSIC
Pfam:RCC1	179	228	7.4e-18	PFAM
Pfam:RCC1_2	216	244	5.5e-10	PFAM
Pfam:RCC1_2	304	332	6.2e-10	PFAM
Pfam:RCC1	319	370	1.3e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123109

Predicted Effect

probably benign
Transcript: ENSMUST00000123189

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155124

Predicted Effect

probably benign
Transcript: ENSMUST00000206363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205863

Predicted Effect

probably benign
Transcript: ENSMUST00000174199

SMART Domains

Protein: ENSMUSP00000133295
Gene: ENSMUSG00000038943

Domain	Start	End	E-Value	Type
Pfam:MAP65_ASE1	7	524	8.1e-158	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173824

SMART Domains

Protein: ENSMUSP00000133910
Gene: ENSMUSG00000038943

Domain	Start	End	E-Value	Type
internal_repeat_1	22	36	8.71e-6	PROSPERO
Pfam:MAP65_ASE1	37	565	6e-168	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174051

SMART Domains

Protein: ENSMUSP00000134262
Gene: ENSMUSG00000038943

Domain	Start	End	E-Value	Type
Pfam:MAP65_ASE1	1	244	1.9e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163812

SMART Domains

Protein: ENSMUSP00000129675
Gene: ENSMUSG00000038943

Domain	Start	End	E-Value	Type
internal_repeat_1	22	36	1.51e-5	PROSPERO
Pfam:MAP65_ASE1	37	605	1.9e-173	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174172

SMART Domains

Protein: ENSMUSP00000133387
Gene: ENSMUSG00000038943

Domain	Start	End	E-Value	Type
Pfam:MAP65_ASE1	34	615	2.9e-167	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154428

SMART Domains

Protein: ENSMUSP00000119665
Gene: ENSMUSG00000030533

Domain	Start	End	E-Value	Type
TPR	21	54	9.53e-2	SMART
TPR	58	91	5.48e-2	SMART
TPR	92	125	7.45e-4	SMART
Blast:ARM	183	224	4e-9	BLAST
Blast:ARM	226	266	6e-8	BLAST
Pfam:UNC45-central	287	505	3.5e-44	PFAM
low complexity region	597	608	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	G	4: 144,349,784 (GRCm39)	D347G	probably damaging	Het
Brwd1	T	C	16: 95,867,774 (GRCm39)	K124E	probably damaging	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Dlec1	T	C	9: 118,975,241 (GRCm39)	V1607A	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Flnb	T	A	14: 7,882,250 (GRCm38)	V317E	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Kmt2c	AGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTG	5: 25,520,755 (GRCm39)		probably benign	Het
Ncs1	C	T	2: 31,174,708 (GRCm39)	T144I	probably damaging	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Or5k16	T	A	16: 58,736,930 (GRCm39)	T25S	probably benign	Het
Pira13	A	T	7: 3,824,574 (GRCm39)	S503T	probably damaging	Het
Prkcd	G	A	14: 30,321,435 (GRCm39)	S552L	probably damaging	Het
Rad54l2	A	G	9: 106,577,789 (GRCm39)	V1044A	probably benign	Het
Rasal1	A	G	5: 120,792,927 (GRCm39)	H60R	probably benign	Het
Speg	T	C	1: 75,361,574 (GRCm39)	V90A	possibly damaging	Het
St8sia1	A	G	6: 142,909,355 (GRCm39)	V47A	probably damaging	Het
Tex264	A	G	9: 106,559,296 (GRCm39)	I10T	unknown	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Vmn1r81	G	A	7: 11,994,596 (GRCm39)	T4I	probably benign	Het

Other mutations in Rccd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01915:Rccd1	APN	7	79,969,966 (GRCm39)	unclassified	probably benign
IGL02024:Rccd1	APN	7	79,968,755 (GRCm39)	missense	probably benign	0.00
IGL02747:Rccd1	APN	7	79,970,238 (GRCm39)	missense	probably benign	0.31
IGL02936:Rccd1	APN	7	79,966,794 (GRCm39)	missense	probably damaging	0.97
K3955:Rccd1	UTSW	7	79,970,419 (GRCm39)	missense	probably benign	0.04
R0137:Rccd1	UTSW	7	79,970,326 (GRCm39)	missense	possibly damaging	0.46
R0671:Rccd1	UTSW	7	79,969,965 (GRCm39)	unclassified	probably benign
R0909:Rccd1	UTSW	7	79,968,799 (GRCm39)	splice site	probably null
R1588:Rccd1	UTSW	7	79,969,859 (GRCm39)	nonsense	probably null
R1706:Rccd1	UTSW	7	79,970,411 (GRCm39)	missense	possibly damaging	0.79
R1826:Rccd1	UTSW	7	79,969,966 (GRCm39)	unclassified	probably benign
R1934:Rccd1	UTSW	7	79,970,272 (GRCm39)	missense	possibly damaging	0.64
R3861:Rccd1	UTSW	7	79,970,116 (GRCm39)	missense	probably benign	0.00
R7387:Rccd1	UTSW	7	79,970,350 (GRCm39)	missense	probably benign	0.26
R7967:Rccd1	UTSW	7	79,968,657 (GRCm39)	missense	possibly damaging	0.86
R8338:Rccd1	UTSW	7	79,970,618 (GRCm39)	missense	possibly damaging	0.91
R9116:Rccd1	UTSW	7	79,970,728 (GRCm39)	missense	probably damaging	1.00
X0022:Rccd1	UTSW	7	79,970,315 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TCCAAGAGAGCCTCTCCTTG -3'
(R):5'- CTCCTAACATGCCAGTCCAG -3'

Sequencing Primer
(F):5'- AAGAGAGCCTCTCCTTGAGCTC -3'
(R):5'- TTCCCAGGTCCATGGCATG -3'

Posted On

2015-01-11