Mutagenetix > Incidental Mutation

Incidental Mutation 'R1588:Rccd1'

177641

Institutional Source

Beutler Lab

Gene Symbol

Rccd1

Ensembl Gene

ENSMUSG00000038930

Gene Name

RCC1 domain containing 1

Synonyms

E430018M08Rik

MMRRC Submission

039625-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1588 (G1)

Quality Score

112

Status

Not validated

Chromosome

Chromosomal Location

79944339-79974512 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 79969859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 223 (W223*)

Ref Sequence

ENSEMBL: ENSMUSP00000113273 (fasta)

Gene Model

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

AlphaFold

Q8BTU7

Predicted Effect

probably null
Transcript: ENSMUST00000047362
AA Change: W223*

SMART Domains

Protein: ENSMUSP00000048043
Gene: ENSMUSG00000038930
AA Change: W223*

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 null
Transcript: ENSMUST00000121882
AA Change: W223*

SMART Domains

Protein: ENSMUSP00000113273
Gene: ENSMUSG00000038930
AA Change: W223*

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: ENSMUST00000130888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155124

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: 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: ENSMUST00000174111

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: 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: ENSMUST00000174051

SMART Domains

Protein: ENSMUSP00000134262
Gene: ENSMUSG00000038943

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	G	14: 118,771,484 (GRCm39)	V869A	probably benign	Het
Ablim1	C	T	19: 57,071,979 (GRCm39)	M1I	probably null	Het
Adamts13	A	T	2: 26,865,687 (GRCm39)	I81F	probably benign	Het
Akap11	A	T	14: 78,747,685 (GRCm39)	N1567K	possibly damaging	Het
Arrdc4	G	A	7: 68,391,484 (GRCm39)	T261M	possibly damaging	Het
C4b	T	C	17: 34,959,999 (GRCm39)	I326V	probably benign	Het
Casp8ap2	G	A	4: 32,640,541 (GRCm39)	A532T	probably benign	Het
Ccdc134	A	G	15: 82,019,337 (GRCm39)	T187A	probably benign	Het
Cdh8	T	C	8: 99,917,039 (GRCm39)	N359D	probably damaging	Het
Cep97	A	G	16: 55,748,184 (GRCm39)	L82P	probably damaging	Het
Cfap53	A	T	18: 74,440,444 (GRCm39)	R404S	probably benign	Het
Chrng	C	A	1: 87,135,229 (GRCm39)	F179L	probably damaging	Het
Ddi1	A	T	9: 6,265,391 (GRCm39)	I326K	probably damaging	Het
Decr2	T	C	17: 26,302,002 (GRCm39)	T243A	possibly damaging	Het
Dip2c	T	C	13: 9,715,900 (GRCm39)	V1502A	probably damaging	Het
Edem1	T	C	6: 108,818,640 (GRCm39)	V216A	probably damaging	Het
Fat2	A	C	11: 55,174,230 (GRCm39)	V2161G	probably damaging	Het
Fbn1	T	C	2: 125,161,034 (GRCm39)	T2169A	probably benign	Het
Fmn1	T	C	2: 113,196,043 (GRCm39)	V581A	unknown	Het
Hip1r	A	T	5: 124,134,638 (GRCm39)	D350V	probably damaging	Het
Ift140	G	A	17: 25,306,959 (GRCm39)	R898H	probably damaging	Het
Il12a	A	G	3: 68,602,896 (GRCm39)	I159V	probably benign	Het
Itprid1	A	G	6: 55,955,488 (GRCm39)	E1032G	possibly damaging	Het
Kl	A	G	5: 150,906,097 (GRCm39)	E489G	probably benign	Het
Klhl3	T	C	13: 58,161,712 (GRCm39)	E461G	probably damaging	Het
Masp1	T	C	16: 23,313,404 (GRCm39)	Y177C	probably damaging	Het
Nop58	T	A	1: 59,742,031 (GRCm39)	Y187N	probably damaging	Het
Npc1l1	A	G	11: 6,167,785 (GRCm39)	V1002A	probably benign	Het
Ntaq1	T	A	15: 58,021,285 (GRCm39)		probably null	Het
Ntrk1	A	T	3: 87,687,384 (GRCm39)	Y683*	probably null	Het
Or11g26	A	G	14: 50,753,584 (GRCm39)	I308V	probably benign	Het
Or13j1	C	T	4: 43,705,923 (GRCm39)	C215Y	probably damaging	Het
Or2w4	C	T	13: 21,796,083 (GRCm39)	D19N	probably benign	Het
Or8k21	T	C	2: 86,144,874 (GRCm39)	Y252C	probably damaging	Het
Osbpl6	T	C	2: 76,409,560 (GRCm39)	V367A	probably benign	Het
Phip	A	G	9: 82,782,881 (GRCm39)	W855R	probably damaging	Het
Phlpp1	A	G	1: 106,308,115 (GRCm39)	S1131G	probably damaging	Het
Pkdrej	A	T	15: 85,701,442 (GRCm39)	V1498E	probably benign	Het
Pramel22	G	T	4: 143,382,121 (GRCm39)	L192M	probably damaging	Het
Prkaa2	T	C	4: 104,908,420 (GRCm39)	N152D	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pxdn	G	A	12: 30,052,558 (GRCm39)	V732M	probably damaging	Het
Riox2	T	A	16: 59,295,946 (GRCm39)	S16T	possibly damaging	Het
Scn5a	C	T	9: 119,350,367 (GRCm39)	V836I	probably damaging	Het
Serpinf1	G	A	11: 75,301,076 (GRCm39)	R380C	probably damaging	Het
Sf3b1	A	T	1: 55,036,336 (GRCm39)	N912K	probably benign	Het
Shprh	T	A	10: 11,040,488 (GRCm39)	C134S	probably damaging	Het
Skint8	T	A	4: 111,785,924 (GRCm39)	C123*	probably null	Het
Slc16a13	G	T	11: 70,109,421 (GRCm39)	S360*	probably null	Het
Srr	A	G	11: 74,799,629 (GRCm39)	I282T	possibly damaging	Het
Trpm1	T	C	7: 63,873,565 (GRCm39)	F607L	possibly damaging	Het
Ttn	T	C	2: 76,539,870 (GRCm39)	D34372G	probably benign	Het
Tub	C	T	7: 108,628,888 (GRCm39)	T401I	probably damaging	Het
Wdhd1	T	C	14: 47,493,693 (GRCm39)	E9G	probably damaging	Het
Yipf3	T	A	17: 46,561,787 (GRCm39)	F198Y	possibly damaging	Het
Zfp955a	C	T	17: 33,460,791 (GRCm39)	R447K	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
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
R2983:Rccd1	UTSW	7	79,970,276 (GRCm39)	nonsense	probably null
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'- ACACTGAAGACTCAGGGATGACTGAGC -3'
(R):5'- AACTCCTGGTGCTGCTACGCAACAAG -3'

Sequencing Primer
(F):5'- TGACTGAGCTGGACTGAGC -3'
(R):5'- ACCAGGTTCTGCGTTACAG -3'

Posted On

2014-04-24