Mutagenetix > Incidental Mutation

Incidental Mutation 'R0563:Rcc1l'

261930

Institutional Source

Beutler Lab

Gene Symbol

Rcc1l

Ensembl Gene

ENSMUSG00000061979

Gene Name

reculator of chromosome condensation 1 like

Synonyms

5730496C04Rik, Wbscr16

MMRRC Submission

038754-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.739) question?

Stock #

R0563 (G1)

Quality Score

103

Status

Not validated

Chromosome

Chromosomal Location

134176893-134205613 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 134205394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 54 (R54G)

Ref Sequence

ENSEMBL: ENSMUSP00000075581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076228]

AlphaFold

Q9CYF5

Predicted Effect

probably benign
Transcript: ENSMUST00000076228
AA Change: R54G

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000075581
Gene: ENSMUSG00000061979
AA Change: R54G

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	28	40	N/A	INTRINSIC
low complexity region	70	92	N/A	INTRINSIC
Pfam:RCC1	127	186	2.3e-10	PFAM
Pfam:RCC1_2	173	202	1e-9	PFAM
Pfam:RCC1	190	242	5.6e-11	PFAM
Pfam:RCC1_2	229	258	2.9e-12	PFAM
Pfam:RCC1	245	295	5.1e-8	PFAM
Pfam:RCC1	298	348	2e-12	PFAM
Pfam:RCC1_2	391	422	2.6e-9	PFAM
Pfam:RCC1	409	456	3e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192921

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	G	T	1: 25,586,635 (GRCm39)	P146T	probably damaging	Het
Ambn	A	C	5: 88,611,309 (GRCm39)	N163T	probably benign	Het
Ankrd36	A	T	11: 5,579,322 (GRCm39)	E870D	probably benign	Het
Cdc123	T	C	2: 5,803,212 (GRCm39)	N269S	probably benign	Het
Cdc7	A	T	5: 107,120,776 (GRCm39)		probably benign	Het
Cdh2	A	T	18: 16,762,738 (GRCm39)	V402D	possibly damaging	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Dcdc5	G	A	2: 106,180,035 (GRCm39)		noncoding transcript	Het
Eif4g3	T	C	4: 137,903,151 (GRCm39)		probably benign	Het
Elovl4	C	T	9: 83,667,087 (GRCm39)		probably null	Het
Fhl5	T	G	4: 25,213,610 (GRCm39)	I109L	probably damaging	Het
Gm16181	A	G	17: 35,442,872 (GRCm39)		probably benign	Het
Gna14	A	G	19: 16,585,483 (GRCm39)	Y287C	probably benign	Het
Greb1	A	T	12: 16,730,268 (GRCm39)	C1720S	probably benign	Het
Gypa	T	A	8: 81,236,089 (GRCm39)	S165T	probably benign	Het
Hephl1	T	C	9: 14,993,241 (GRCm39)	D531G	probably damaging	Het
Hsf2bp	A	T	17: 32,226,692 (GRCm39)	L221Q	probably damaging	Het
Itsn1	A	G	16: 91,617,684 (GRCm39)		probably benign	Het
Kif7	T	C	7: 79,352,020 (GRCm39)	E914G	probably benign	Het
Lrp1b	T	C	2: 40,640,926 (GRCm39)	D3506G	probably benign	Het
Lrrc28	T	C	7: 67,195,135 (GRCm39)	N225S	probably damaging	Het
Lysmd4	T	A	7: 66,875,925 (GRCm39)	L196Q	probably benign	Het
Megf8	T	C	7: 25,041,820 (GRCm39)	C1245R	probably damaging	Het
Mgat4f	A	G	1: 134,317,777 (GRCm39)	K183R	probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mindy2	T	A	9: 70,538,334 (GRCm39)	I334L	possibly damaging	Het
Mrm1	A	G	11: 84,705,539 (GRCm39)	S287P	probably damaging	Het
Ncor1	A	G	11: 62,234,056 (GRCm39)	I382T	probably damaging	Het
Nectin1	A	G	9: 43,702,342 (GRCm39)	T30A	probably benign	Het
Nelfe	A	G	17: 35,073,215 (GRCm39)	E250G	possibly damaging	Het
Nsd1	C	A	13: 55,394,391 (GRCm39)	T767K	possibly damaging	Het
Or1i2	G	A	10: 78,448,467 (GRCm39)	P3S	probably benign	Het
Or1j18	A	T	2: 36,625,013 (GRCm39)	K227*	probably null	Het
Or4e5	T	A	14: 52,727,714 (GRCm39)	K236*	probably null	Het
Or5b111	A	G	19: 13,291,112 (GRCm39)	I179T	probably benign	Het
Pcnx1	A	G	12: 81,964,718 (GRCm39)	D295G	probably damaging	Het
Pex14	A	G	4: 149,046,003 (GRCm39)	V309A	possibly damaging	Het
Phf14	C	T	6: 11,933,600 (GRCm39)		probably benign	Het
Pnpla6	A	G	8: 3,573,333 (GRCm39)	D399G	possibly damaging	Het
Prim1	A	G	10: 127,862,423 (GRCm39)	D340G	probably damaging	Het
Rb1	A	G	14: 73,454,207 (GRCm39)	F564L	probably damaging	Het
Rnf151	G	A	17: 24,936,430 (GRCm39)		probably benign	Het
Rnf40	T	C	7: 127,192,048 (GRCm39)	L398P	probably damaging	Het
Robo1	C	T	16: 72,769,174 (GRCm39)	T531I	probably benign	Het
Rps6ka2	A	T	17: 7,521,836 (GRCm39)	I198F	probably damaging	Het
Sgk2	T	C	2: 162,846,164 (GRCm39)	L264P	probably damaging	Het
Slc26a6	T	A	9: 108,734,869 (GRCm39)	I281N	probably damaging	Het
Tnxb	A	T	17: 34,935,921 (GRCm39)	K2657N	probably benign	Het
Tor1aip1	G	A	1: 155,911,554 (GRCm39)	T143M	probably damaging	Het
Tpr	A	G	1: 150,284,609 (GRCm39)	D358G	probably benign	Het
Vstm2b	T	C	7: 40,551,899 (GRCm39)	S76P	probably damaging	Het
Wdr33	A	G	18: 32,019,792 (GRCm39)	K488R	possibly damaging	Het
Ythdc2	T	A	18: 44,997,915 (GRCm39)		probably benign	Het

Other mutations in Rcc1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1834:Rcc1l	UTSW	5	134,192,498 (GRCm39)	missense	probably damaging	1.00
R2108:Rcc1l	UTSW	5	134,184,629 (GRCm39)	missense	probably benign	0.00
R2512:Rcc1l	UTSW	5	134,195,508 (GRCm39)	missense	probably damaging	0.98
R3705:Rcc1l	UTSW	5	134,183,030 (GRCm39)	missense	probably damaging	1.00
R4192:Rcc1l	UTSW	5	134,184,648 (GRCm39)	missense	probably benign
R4658:Rcc1l	UTSW	5	134,200,729 (GRCm39)	missense	probably damaging	1.00
R4791:Rcc1l	UTSW	5	134,192,615 (GRCm39)	missense	possibly damaging	0.89
R6076:Rcc1l	UTSW	5	134,198,167 (GRCm39)	missense	possibly damaging	0.90
R6291:Rcc1l	UTSW	5	134,195,560 (GRCm39)	splice site	probably null
R6508:Rcc1l	UTSW	5	134,198,077 (GRCm39)	missense	probably damaging	1.00
R6799:Rcc1l	UTSW	5	134,205,552 (GRCm39)	start codon destroyed	probably null
R7344:Rcc1l	UTSW	5	134,205,276 (GRCm39)	missense	probably benign	0.03
R7971:Rcc1l	UTSW	5	134,194,208 (GRCm39)	missense	probably damaging	0.99
R9151:Rcc1l	UTSW	5	134,197,057 (GRCm39)	missense	probably benign	0.04
R9622:Rcc1l	UTSW	5	134,205,348 (GRCm39)	missense	probably damaging	1.00
R9660:Rcc1l	UTSW	5	134,182,977 (GRCm39)	missense	probably benign	0.43
Z1177:Rcc1l	UTSW	5	134,194,247 (GRCm39)	missense	probably damaging	1.00
Z1177:Rcc1l	UTSW	5	134,192,596 (GRCm39)	missense	probably benign	0.10

Predicted Primers

Posted On

2015-02-04