Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02927:Rcc1'

363906

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rcc1

Ensembl Gene

ENSMUSG00000028896

Gene Name

regulator of chromosome condensation 1

Synonyms

4931417M11Rik, Chc1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

IGL02927

Quality Score

Status

Chromosome

Chromosomal Location

132059230-132073061 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 132065067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 139 (R139H)

Ref Sequence

ENSEMBL: ENSMUSP00000101571 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030726] [ENSMUST00000084250] [ENSMUST00000105951] [ENSMUST00000155129]

AlphaFold

Q8VE37

Predicted Effect

probably benign
Transcript: ENSMUST00000030726
AA Change: R152H

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000030726
Gene: ENSMUSG00000028896
AA Change: R152H

Domain	Start	End	E-Value	Type
Pfam:RCC1	47	95	7.9e-12	PFAM
Pfam:RCC1	98	147	7.5e-17	PFAM
Pfam:RCC1_2	134	165	1.3e-11	PFAM
Pfam:RCC1	150	200	9.9e-10	PFAM
Pfam:RCC1_2	187	216	3.2e-7	PFAM
Pfam:RCC1	203	268	4.2e-14	PFAM
Pfam:RCC1	271	322	1.1e-11	PFAM
Pfam:RCC1	325	373	3.4e-10	PFAM
Pfam:RCC1	376	427	3.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084250
AA Change: R139H

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000081271
Gene: ENSMUSG00000028896
AA Change: R139H

Domain	Start	End	E-Value	Type
low complexity region	19	26	N/A	INTRINSIC
Pfam:RCC1	34	82	4.1e-10	PFAM
Pfam:RCC1	85	134	1.4e-13	PFAM
Pfam:RCC1_2	121	151	1.5e-8	PFAM
Pfam:RCC1	137	187	1.7e-7	PFAM
Pfam:RCC1_2	174	203	3e-5	PFAM
Pfam:RCC1	190	255	9.6e-11	PFAM
Pfam:RCC1	258	309	1.9e-9	PFAM
Pfam:RCC1	312	360	5.7e-9	PFAM
Pfam:RCC1	363	414	3.9e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105951
AA Change: R139H

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101571
Gene: ENSMUSG00000028896
AA Change: R139H

Domain	Start	End	E-Value	Type
low complexity region	19	26	N/A	INTRINSIC
Pfam:RCC1	34	82	4.1e-10	PFAM
Pfam:RCC1	85	134	1.4e-13	PFAM
Pfam:RCC1_2	121	151	1.5e-8	PFAM
Pfam:RCC1	137	187	1.7e-7	PFAM
Pfam:RCC1_2	174	203	3e-5	PFAM
Pfam:RCC1	190	255	9.6e-11	PFAM
Pfam:RCC1	258	309	1.9e-9	PFAM
Pfam:RCC1	312	360	5.7e-9	PFAM
Pfam:RCC1	363	414	3.9e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137238

Predicted Effect

probably benign
Transcript: ENSMUST00000155129

SMART Domains

Protein: ENSMUSP00000120701
Gene: ENSMUSG00000028896

Domain	Start	End	E-Value	Type
low complexity region	19	26	N/A	INTRINSIC
Pfam:RCC1	34	82	3.9e-13	PFAM
Pfam:RCC1_2	69	98	5.2e-7	PFAM
Pfam:RCC1	85	116	5.3e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156710

Meta Mutation Damage Score

0.1229

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	G	A	17: 48,347,729 (GRCm39)	Q192*	probably null	Het
Actl7b	C	A	4: 56,740,609 (GRCm39)	D250Y	probably damaging	Het
Akr1a1	T	A	4: 116,495,180 (GRCm39)	N273I	probably damaging	Het
Arhgap32	T	A	9: 32,172,431 (GRCm39)	I1737N	possibly damaging	Het
Cant1	T	C	11: 118,301,888 (GRCm39)	D143G	probably benign	Het
Cast	T	A	13: 74,885,113 (GRCm39)	D295V	probably damaging	Het
Cdh1	A	G	8: 107,395,143 (GRCm39)	N851D	probably damaging	Het
Cntn1	G	A	15: 92,189,561 (GRCm39)	R628H	probably benign	Het
Cul4a	A	G	8: 13,174,861 (GRCm39)	D279G	possibly damaging	Het
Cyp2s1	T	C	7: 25,507,577 (GRCm39)	K291E	probably benign	Het
Dhx35	A	T	2: 158,662,336 (GRCm39)	I205F	probably damaging	Het
Dpp8	G	T	9: 64,967,551 (GRCm39)	R518L	probably benign	Het
Gm9	A	G	X: 36,474,207 (GRCm39)	I34T	possibly damaging	Het
Hmcn1	A	T	1: 150,453,029 (GRCm39)	C5429S	probably damaging	Het
Iqgap2	A	C	13: 95,861,184 (GRCm39)	L314R	possibly damaging	Het
Itgav	A	C	2: 83,625,884 (GRCm39)	Y810S	probably damaging	Het
Kcng4	G	T	8: 120,353,061 (GRCm39)	P283Q	probably benign	Het
Lrrn3	T	A	12: 41,503,343 (GRCm39)	I325F	probably damaging	Het
Lzts3	A	G	2: 130,479,877 (GRCm39)		probably benign	Het
Marchf7	T	C	2: 60,067,262 (GRCm39)	I594T	probably damaging	Het
Matn2	A	T	15: 34,355,801 (GRCm39)	I269F	probably damaging	Het
Matn4	A	G	2: 164,231,757 (GRCm39)	F591S	probably damaging	Het
Mknk1	C	T	4: 115,714,288 (GRCm39)	R20C	probably damaging	Het
Mrgbp	T	C	2: 180,226,272 (GRCm39)	V115A	probably damaging	Het
Mrgprb8	C	T	7: 48,038,373 (GRCm39)	Q15*	probably null	Het
Naa38	T	C	11: 69,286,743 (GRCm39)	L9P	probably damaging	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Or13a19	T	A	7: 139,902,654 (GRCm39)	L14Q	probably damaging	Het
Or2y3	T	A	17: 38,393,114 (GRCm39)	M252L	probably benign	Het
Or9i2	G	A	19: 13,816,288 (GRCm39)	T83I	probably benign	Het
Pkd1	A	G	17: 24,794,163 (GRCm39)	N1950S	probably damaging	Het
Plagl2	A	G	2: 153,074,199 (GRCm39)	L234P	probably damaging	Het
Psmb11	C	T	14: 54,863,108 (GRCm39)	R109W	probably damaging	Het
Rsbn1	A	G	3: 103,869,668 (GRCm39)	T710A	probably benign	Het
Shld2	T	C	14: 33,989,658 (GRCm39)	Y416C	probably damaging	Het
Slitrk4	A	G	X: 63,314,933 (GRCm39)	I578T	possibly damaging	Het
Srgap1	T	C	10: 121,691,367 (GRCm39)	Y289C	probably damaging	Het
Stxbp2	A	G	8: 3,692,685 (GRCm39)	D579G	possibly damaging	Het
Tg	T	C	15: 66,549,942 (GRCm39)	Y235H	probably damaging	Het
Thbs3	A	G	3: 89,127,514 (GRCm39)	N385S	probably damaging	Het
Trmo	A	G	4: 46,387,602 (GRCm39)	S80P	probably damaging	Het
Ubc	T	C	5: 125,463,201 (GRCm39)	K709E	probably benign	Het
Vstm4	C	T	14: 32,659,745 (GRCm39)	P296S	probably damaging	Het
Wdr11	G	A	7: 129,208,822 (GRCm39)		probably null	Het
Wdr19	T	C	5: 65,409,721 (GRCm39)	I1153T	possibly damaging	Het
Xpo6	T	C	7: 125,755,901 (GRCm39)	E213G	possibly damaging	Het
Zxdc	A	C	6: 90,349,544 (GRCm39)	T311P	probably damaging	Het

Other mutations in Rcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02881:Rcc1	APN	4	132,065,067 (GRCm39)	missense	probably benign	0.20
IGL02802:Rcc1	UTSW	4	132,065,067 (GRCm39)	missense	probably benign	0.20
IGL02837:Rcc1	UTSW	4	132,065,067 (GRCm39)	missense	probably benign	0.20
R0240:Rcc1	UTSW	4	132,060,226 (GRCm39)	missense	probably damaging	1.00
R0240:Rcc1	UTSW	4	132,060,226 (GRCm39)	missense	probably damaging	1.00
R0828:Rcc1	UTSW	4	132,063,136 (GRCm39)	unclassified	probably benign
R1606:Rcc1	UTSW	4	132,062,087 (GRCm39)	splice site	probably null
R2155:Rcc1	UTSW	4	132,065,360 (GRCm39)	critical splice donor site	probably null
R3721:Rcc1	UTSW	4	132,065,125 (GRCm39)	missense	possibly damaging	0.46
R4633:Rcc1	UTSW	4	132,063,080 (GRCm39)	missense	probably damaging	0.98
R4908:Rcc1	UTSW	4	132,065,064 (GRCm39)	missense	probably damaging	1.00
R4936:Rcc1	UTSW	4	132,063,046 (GRCm39)	missense	probably damaging	0.96
R5461:Rcc1	UTSW	4	132,061,497 (GRCm39)	missense	probably benign	0.00
R5627:Rcc1	UTSW	4	132,065,454 (GRCm39)	missense	probably damaging	0.98
R6088:Rcc1	UTSW	4	132,060,153 (GRCm39)	missense	probably benign	0.00
R6197:Rcc1	UTSW	4	132,065,073 (GRCm39)	missense	possibly damaging	0.58
R6456:Rcc1	UTSW	4	132,061,427 (GRCm39)	missense	probably benign	0.10
R7127:Rcc1	UTSW	4	132,062,107 (GRCm39)	missense	probably damaging	0.98
R7440:Rcc1	UTSW	4	132,065,110 (GRCm39)	missense	probably damaging	0.97
R7529:Rcc1	UTSW	4	132,061,874 (GRCm39)	missense	probably benign	0.00
R8168:Rcc1	UTSW	4	132,063,096 (GRCm39)	missense	probably benign	0.38
R8469:Rcc1	UTSW	4	132,061,445 (GRCm39)	missense	probably damaging	1.00
R8733:Rcc1	UTSW	4	132,065,515 (GRCm39)	missense	probably benign	0.03
R9454:Rcc1	UTSW	4	132,062,074 (GRCm39)	missense	probably damaging	1.00
R9483:Rcc1	UTSW	4	132,062,808 (GRCm39)	missense	probably benign	0.05

Posted On

2015-12-18