Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02837:Rcc1'

391902

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 #

IGL02837 (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

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	C	T	17: 36,268,473 (GRCm39)	V786I	probably benign	Het
Adamts13	A	G	2: 26,881,432 (GRCm39)	N803S	probably benign	Het
Ago4	C	G	4: 126,391,093 (GRCm39)	G730R	possibly damaging	Het
Amn	T	A	12: 111,238,333 (GRCm39)	M55K	possibly damaging	Het
Apob	A	T	12: 8,055,102 (GRCm39)	Y1334F	probably damaging	Het
Arl14ep	A	C	2: 106,799,574 (GRCm39)	L89R	probably damaging	Het
Bcam	T	G	7: 19,498,111 (GRCm39)	E304A	probably damaging	Het
Car10	A	T	11: 93,488,077 (GRCm39)	Y258F	probably damaging	Het
Cerk	T	A	15: 86,028,896 (GRCm39)	K82*	probably null	Het
Chac2	T	C	11: 30,927,496 (GRCm39)	N141S	probably damaging	Het
Clpx	T	G	9: 65,231,541 (GRCm39)	L556R	probably damaging	Het
Csgalnact2	T	C	6: 118,101,364 (GRCm39)	I55V	probably benign	Het
Cul1	T	C	6: 47,500,139 (GRCm39)	V650A	probably benign	Het
Dnah5	A	T	15: 28,269,546 (GRCm39)	E895D	probably benign	Het
Dnah9	T	C	11: 65,765,022 (GRCm39)	K3841E	probably damaging	Het
Dpys	A	G	15: 39,720,701 (GRCm39)	S20P	probably damaging	Het
Fat1	G	A	8: 45,470,471 (GRCm39)	V1490I	probably benign	Het
Flg2	T	G	3: 93,109,044 (GRCm39)	C357W	probably damaging	Het
Flt1	T	A	5: 147,591,980 (GRCm39)	D494V	probably benign	Het
Fpr-rs4	T	A	17: 18,242,513 (GRCm39)	D173E	probably benign	Het
Gm2666	G	T	1: 85,412,824 (GRCm39)		noncoding transcript	Het
Gm3867	C	A	9: 36,169,096 (GRCm39)		noncoding transcript	Het
Gm5436	A	T	12: 84,305,374 (GRCm39)		noncoding transcript	Het
Kit	G	A	5: 75,799,668 (GRCm39)	V467I	probably benign	Het
Krtap4-16	A	G	11: 99,741,863 (GRCm39)	V179A	unknown	Het
Lrp8	C	A	4: 107,718,478 (GRCm39)	H693Q	probably benign	Het
Lrrc49	A	G	9: 60,517,605 (GRCm39)	S75P	probably benign	Het
Ltbp4	C	A	7: 27,013,806 (GRCm39)	V1068L	probably damaging	Het
Magel2	C	T	7: 62,028,008 (GRCm39)	P304L	possibly damaging	Het
Muc19	T	A	15: 91,766,850 (GRCm39)		noncoding transcript	Het
Npas3	T	C	12: 53,993,980 (GRCm39)	V175A	possibly damaging	Het
Nr1h4	A	T	10: 89,352,342 (GRCm39)	H8Q	probably benign	Het
Ntsr2	G	A	12: 16,703,876 (GRCm39)	V126M	probably damaging	Het
Odf2	A	T	2: 29,816,725 (GRCm39)	T725S	probably damaging	Het
Or52e19b	C	T	7: 103,032,822 (GRCm39)	C129Y	probably damaging	Het
Or5h17	C	T	16: 58,820,909 (GRCm39)	P287L	probably damaging	Het
Or9s13	T	C	1: 92,548,404 (GRCm39)	Y259H	possibly damaging	Het
Pgr	T	C	9: 8,946,639 (GRCm39)		probably benign	Het
Pik3c2g	T	A	6: 139,603,562 (GRCm39)	C249*	probably null	Het
Plcd3	C	T	11: 102,961,929 (GRCm39)	V726M	possibly damaging	Het
Prl8a1	A	G	13: 27,759,617 (GRCm39)	L140P	probably damaging	Het
Prpf6	C	A	2: 181,264,056 (GRCm39)	D239E	probably damaging	Het
Rimbp2	G	T	5: 128,874,809 (GRCm39)	Q268K	probably damaging	Het
Rps19-ps13	A	T	18: 40,859,447 (GRCm39)		noncoding transcript	Het
Sema4c	C	A	1: 36,591,965 (GRCm39)	G266V	probably damaging	Het
Sema4g	T	C	19: 44,985,150 (GRCm39)	F156S	probably damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Speer4f1	G	T	5: 17,685,381 (GRCm39)	L225F	unknown	Het
Thrap3	T	C	4: 126,059,157 (GRCm39)		probably benign	Het
Tnfrsf8	T	C	4: 144,995,568 (GRCm39)	E497G	probably benign	Het
Trim3	T	C	7: 105,261,863 (GRCm39)	N631S	probably damaging	Het
Trim45	C	T	3: 100,838,943 (GRCm39)		probably benign	Het
Wdr43	A	G	17: 71,949,731 (GRCm39)	D445G	probably benign	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
IGL02802: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

2016-06-08