Mutagenetix > Incidental Mutation

Incidental Mutation 'R6508:Rcc1l'

523984

Institutional Source

Beutler Lab

Gene Symbol

Rcc1l

Ensembl Gene

ENSMUSG00000061979

Gene Name

reculator of chromosome condensation 1 like

Synonyms

5730496C04Rik, Wbscr16

MMRRC Submission

044638-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.739) question?

Stock #

R6508 (G1)

Quality Score

132.008

Status

Not validated

Chromosome

Chromosomal Location

134176893-134205613 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 134198077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 185 (V185D)

Ref Sequence

ENSEMBL: ENSMUSP00000075581 (fasta)

Gene Model

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

AlphaFold

Q9CYF5

Predicted Effect

probably damaging
Transcript: ENSMUST00000076228
AA Change: V185D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000075581
Gene: ENSMUSG00000061979
AA Change: V185D

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: ENSMUST00000126113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156574

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	G	A	4: 144,291,590 (GRCm39)	R39*	probably null	Het
Brca2	A	T	5: 150,460,058 (GRCm39)	E444D	possibly damaging	Het
Camkk2	G	T	5: 122,884,382 (GRCm39)	N346K	probably damaging	Het
Car4	C	A	11: 84,856,469 (GRCm39)	D252E	possibly damaging	Het
Chd1	A	G	17: 15,958,895 (GRCm39)	K649R	probably benign	Het
Col12a1	A	G	9: 79,557,231 (GRCm39)	Y1966H	probably damaging	Het
Crppa	C	T	12: 36,476,298 (GRCm39)	A180V	possibly damaging	Het
Cts6	T	A	13: 61,344,221 (GRCm39)	H277L	probably damaging	Het
Dcc	G	T	18: 71,439,144 (GRCm39)	P1246Q	probably damaging	Het
Dlg5	G	A	14: 24,188,774 (GRCm39)	T1739I	probably benign	Het
Eci1	T	A	17: 24,656,283 (GRCm39)	N164K	probably damaging	Het
Entpd7	G	A	19: 43,679,525 (GRCm39)	R26H	probably damaging	Het
Fanci	A	G	7: 79,093,516 (GRCm39)	K1008E	probably damaging	Het
Htr2b	T	C	1: 86,030,186 (GRCm39)	T170A	possibly damaging	Het
Irgm2	A	G	11: 58,110,327 (GRCm39)	E18G	probably benign	Het
Kdm1a	A	T	4: 136,281,621 (GRCm39)	V630E	probably damaging	Het
Keap1	G	A	9: 21,143,010 (GRCm39)	T501I	possibly damaging	Het
L3mbtl3	T	A	10: 26,194,325 (GRCm39)	H424L	unknown	Het
Lrrc14b	C	T	13: 74,511,337 (GRCm39)	D248N	possibly damaging	Het
Macf1	T	A	4: 123,363,535 (GRCm39)	D3364V	probably damaging	Het
Map3k20	G	A	2: 72,272,253 (GRCm39)	G794S	probably benign	Het
Mcat	T	C	15: 83,433,452 (GRCm39)	Q34R	probably benign	Het
Mettl4	T	C	17: 95,051,373 (GRCm39)	E148G	probably damaging	Het
Mgat3	T	C	15: 80,096,225 (GRCm39)	S351P	possibly damaging	Het
Mllt1	A	T	17: 57,234,054 (GRCm39)	I44N	probably damaging	Het
Mlxipl	G	T	5: 135,157,474 (GRCm39)	A337S	probably benign	Het
Naip1	A	G	13: 100,572,973 (GRCm39)	F254L	probably damaging	Het
Obscn	A	T	11: 58,944,973 (GRCm39)		probably null	Het
Or10q1	C	T	19: 13,726,718 (GRCm39)	P83S	probably damaging	Het
Pcdh12	G	A	18: 38,414,390 (GRCm39)	R912*	probably null	Het
Pcdh17	A	G	14: 84,685,419 (GRCm39)	N629D	probably damaging	Het
Pcnx1	T	C	12: 81,959,479 (GRCm39)	I170T	probably damaging	Het
Pgr	A	G	9: 8,956,290 (GRCm39)	Y746C	probably damaging	Het
Pramel29	A	T	4: 143,934,171 (GRCm39)	L312*	probably null	Het
Pum2	T	C	12: 8,798,861 (GRCm39)	Y991H	probably benign	Het
Scarb1	A	T	5: 125,381,389 (GRCm39)	S52T	possibly damaging	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Spata4	T	C	8: 55,053,887 (GRCm39)	S18P	probably benign	Het
Stard13	G	A	5: 150,986,754 (GRCm39)	T134I	probably benign	Het
Tbc1d32	C	T	10: 56,100,786 (GRCm39)	C64Y	probably damaging	Het
Tll1	T	G	8: 64,551,494 (GRCm39)	I296L	probably damaging	Het
Tmem229b	T	G	12: 79,011,680 (GRCm39)	T84P	probably damaging	Het
Ttn	T	C	2: 76,544,757 (GRCm39)	T32782A	possibly damaging	Het
Vmn1r73	G	A	7: 11,490,631 (GRCm39)	V150I	possibly damaging	Het
Vmn2r80	T	A	10: 79,030,290 (GRCm39)	F705L	probably benign	Het

Other mutations in Rcc1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0563:Rcc1l	UTSW	5	134,205,394 (GRCm39)	missense	probably benign	0.16
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
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

PCR Primer
(F):5'- TGTATGTAATGCCGCCCTCTG -3'
(R):5'- TCTGTAAGAGCTGAGGTGCCTG -3'

Sequencing Primer
(F):5'- TCAGTCCGTGGGGAAACAC -3'
(R):5'- AGCTGAGGTGCCTGAACCAG -3'

Posted On

2018-06-22