Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02802:Rcc1'

392079

Institutional Source

Beutler Lab

Gene Symbol

Rcc1

Ensembl Gene

ENSMUSG00000028896

Gene Name

regulator of chromosome condensation 1

Synonyms

4931417M11Rik, Chc1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.972) question?

Stock #

IGL02802 (G1)

Quality Score

225

Status

Validated

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

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	C	1: 130,671,130 (GRCm39)	T451P	probably benign	Het
Actbl2	A	G	13: 111,392,310 (GRCm39)	E215G	probably damaging	Het
Adh6b	A	G	3: 138,058,545 (GRCm39)	T198A	possibly damaging	Het
Bicd2	A	G	13: 49,531,804 (GRCm39)	K349E	probably damaging	Het
Bsnd	T	A	4: 106,349,231 (GRCm39)	D3V	probably damaging	Het
Cd83	T	A	13: 43,953,147 (GRCm39)	L142Q	probably null	Het
Cdh20	A	G	1: 110,065,655 (GRCm39)	E643G	probably damaging	Het
Ces1b	T	G	8: 93,783,594 (GRCm39)	E542A	possibly damaging	Het
Cfhr2	A	G	1: 139,738,762 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,769,186 (GRCm39)	D471G	probably damaging	Het
Cntn5	C	A	9: 10,048,683 (GRCm39)		probably null	Het
Cntnap2	A	T	6: 46,147,179 (GRCm39)	D475V	probably damaging	Het
Cntnap5c	T	C	17: 58,612,679 (GRCm39)	F906S	probably benign	Het
Cobll1	A	T	2: 64,928,663 (GRCm39)	S888T	probably damaging	Het
Csf2rb	G	A	15: 78,223,103 (GRCm39)	R105Q	probably benign	Het
Ctnnd1	C	A	2: 84,454,806 (GRCm39)	M1I	probably null	Het
Cxxc1	C	T	18: 74,352,481 (GRCm39)	Q354*	probably null	Het
Dnhd1	A	G	7: 105,304,930 (GRCm39)	D324G	possibly damaging	Het
Donson	T	C	16: 91,478,196 (GRCm39)	D435G	possibly damaging	Het
Ephb1	T	C	9: 101,887,218 (GRCm39)	K474E	possibly damaging	Het
Erbin	A	G	13: 104,004,638 (GRCm39)	L130P	probably damaging	Het
Fam221a	C	T	6: 49,355,411 (GRCm39)	T171I	probably damaging	Het
Farp2	A	G	1: 93,456,332 (GRCm39)	E5G	probably damaging	Het
Fblim1	A	G	4: 141,317,431 (GRCm39)	S85P	possibly damaging	Het
Fhl2	A	T	1: 43,162,761 (GRCm39)	C251*	probably null	Het
Glis2	T	C	16: 4,429,735 (GRCm39)		probably null	Het
Gm10715	A	C	9: 3,038,062 (GRCm39)		probably benign	Het
Gm10717	C	T	9: 3,031,999 (GRCm39)	P127S	probably benign	Het
Heatr6	T	C	11: 83,651,762 (GRCm39)	L246P	probably damaging	Het
Igkv5-39	G	A	6: 69,877,457 (GRCm39)	P100S	probably benign	Het
Jup	T	C	11: 100,269,204 (GRCm39)	D403G	probably benign	Het
Kank1	T	C	19: 25,388,963 (GRCm39)	Y879H	probably damaging	Het
Kcna3	G	A	3: 106,944,369 (GRCm39)	E211K	probably damaging	Het
Klc3	A	T	7: 19,129,049 (GRCm39)	I440N	possibly damaging	Het
Mmp1b	T	C	9: 7,384,709 (GRCm39)	T280A	probably benign	Het
Nat3	A	T	8: 68,000,160 (GRCm39)	Q13L	probably benign	Het
Nckap1l	A	G	15: 103,372,963 (GRCm39)	N272S	probably benign	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Nsd3	T	C	8: 26,130,922 (GRCm39)	S96P	probably damaging	Het
Ntaq1	A	G	15: 58,011,833 (GRCm39)	S65G	probably benign	Het
Nudt16l1	C	T	16: 4,757,131 (GRCm39)	R43C	probably damaging	Het
Obscn	T	A	11: 58,891,310 (GRCm39)	Q7074L	unknown	Het
Or4p20	A	G	2: 88,253,832 (GRCm39)	V179A	probably benign	Het
Or5m12	A	G	2: 85,734,733 (GRCm39)	S222P	probably damaging	Het
Or5p78	A	T	7: 108,211,669 (GRCm39)	I52F	probably damaging	Het
Or6c206	T	A	10: 129,097,136 (GRCm39)		probably null	Het
Or8b37	T	G	9: 37,959,345 (GRCm39)	Y276D	probably damaging	Het
Or8k30	T	A	2: 86,339,290 (GRCm39)	N162K	probably benign	Het
P4htm	C	T	9: 108,460,055 (GRCm39)	D240N	probably benign	Het
Plekhm2	A	T	4: 141,369,835 (GRCm39)		probably benign	Het
Plppr5	T	C	3: 117,456,228 (GRCm39)	S250P	probably damaging	Het
Pmis2	T	C	7: 30,370,919 (GRCm39)	K12E	probably benign	Het
Ppox	A	T	1: 171,105,066 (GRCm39)	L374*	probably null	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Tdo2	A	G	3: 81,883,004 (GRCm39)		probably benign	Het
Tent2	A	T	13: 93,285,449 (GRCm39)	N436K	probably damaging	Het
Thbs2	A	G	17: 14,904,389 (GRCm39)	I326T	probably benign	Het
Thrap3	T	C	4: 126,059,157 (GRCm39)		probably benign	Het
Ttc6	A	T	12: 57,622,654 (GRCm39)	M18L	probably benign	Het
Ttn	C	T	2: 76,604,924 (GRCm39)	V18337I	probably damaging	Het
Txndc2	A	G	17: 65,946,601 (GRCm39)	S34P	possibly damaging	Het
Vps72	T	A	3: 95,026,545 (GRCm39)	C163*	probably null	Het
Zfp831	T	A	2: 174,486,945 (GRCm39)	I540N	possibly 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
IGL02927:Rcc1	APN	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

Predicted Primers

PCR Primer
(F):5'- GCAGGAAATGAGCCTCAGTG -3'
(R):5'- CCAGGCTTTGTGTTAATGGGAC -3'

Sequencing Primer
(F):5'- TTCCAAGGCCAGCTCAGC -3'
(R):5'- TGGGACATCCTGGGCACAG -3'

Posted On

2016-06-09