Mutagenetix > Incidental Mutation

Incidental Mutation 'R3705:Rcc1l'

258701

Institutional Source

Beutler Lab

Gene Symbol

Rcc1l

Ensembl Gene

ENSMUSG00000061979

Gene Name

reculator of chromosome condensation 1 like

Synonyms

5730496C04Rik, Wbscr16

MMRRC Submission

040698-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.698) question?

Stock #

R3705 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134176893-134205613 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 134183030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 414 (V414E)

Ref Sequence

ENSEMBL: ENSMUSP00000075581 (fasta)

Gene Model

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

AlphaFold

Q9CYF5

Predicted Effect

probably damaging
Transcript: ENSMUST00000076228
AA Change: V414E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000075581
Gene: ENSMUSG00000061979
AA Change: V414E

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

Meta Mutation Damage Score

0.7093

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (46/46)

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
9930111J21Rik1	T	C	11: 48,838,803 (GRCm39)	T595A	possibly damaging	Het
Abca12	T	C	1: 71,324,864 (GRCm39)	D1538G	probably damaging	Het
Asap3	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGAGGAGGA	4: 135,968,552 (GRCm39)		probably benign	Het
Bcap29	T	C	12: 31,667,151 (GRCm39)	H170R	probably benign	Het
Bltp1	T	A	3: 37,041,730 (GRCm39)	C2703S	probably damaging	Het
Brwd3	A	G	X: 107,804,021 (GRCm39)		probably benign	Het
Capn1	T	C	19: 6,057,401 (GRCm39)	E349G	probably damaging	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Csf3r	A	G	4: 125,926,078 (GRCm39)	D221G	possibly damaging	Het
Cubn	T	A	2: 13,355,754 (GRCm39)	H1826L	probably damaging	Het
Dnajc19	A	G	3: 34,134,378 (GRCm39)		probably null	Het
Dync1h1	G	A	12: 110,607,020 (GRCm39)	V2566I	possibly damaging	Het
Ehd1	A	G	19: 6,348,330 (GRCm39)	D436G		Het
Fam133b	T	C	5: 3,611,034 (GRCm39)		probably benign	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Gpnmb	T	A	6: 49,028,799 (GRCm39)	I439N	possibly damaging	Het
Grm1	G	A	10: 10,658,473 (GRCm39)	T339I	possibly damaging	Het
Gtpbp3	T	G	8: 71,944,779 (GRCm39)	S345A	probably benign	Het
Hdac4	A	G	1: 91,862,416 (GRCm39)		probably benign	Het
Hfm1	A	G	5: 107,040,705 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,418,781 (GRCm39)		probably null	Het
Igfn1	T	C	1: 135,896,147 (GRCm39)	N1473S	probably benign	Het
Jak3	A	G	8: 72,134,166 (GRCm39)	K423E	probably damaging	Het
Kifc3	G	A	8: 95,830,656 (GRCm39)		probably benign	Het
Lrrc8d	T	C	5: 105,961,341 (GRCm39)	S584P	probably damaging	Het
Nipal4	T	C	11: 46,052,678 (GRCm39)		probably benign	Het
Nisch	A	G	14: 30,898,702 (GRCm39)		probably benign	Het
Nmur2	T	C	11: 55,931,300 (GRCm39)	Y137C	probably damaging	Het
Nod2	T	C	8: 89,379,948 (GRCm39)	S150P	probably benign	Het
Or5w22	A	G	2: 87,362,412 (GRCm39)	I12V	probably benign	Het
Pdgfc	T	C	3: 81,111,751 (GRCm39)		probably null	Het
Phldb1	G	T	9: 44,605,691 (GRCm39)	H1323N	probably damaging	Het
Ppp1r14c	A	G	10: 3,373,524 (GRCm39)	I112V	possibly damaging	Het
Pramel26	T	C	4: 143,538,345 (GRCm39)	T209A	probably benign	Het
Riok3	A	G	18: 12,282,011 (GRCm39)	M327V	probably benign	Het
Sf3b4	T	C	3: 96,083,944 (GRCm39)		probably benign	Het
Spag6	A	G	2: 18,715,368 (GRCm39)	Y49C	probably damaging	Het
Syngap1	T	C	17: 27,178,994 (GRCm39)	S495P	probably damaging	Het
Tedc2	A	G	17: 24,435,361 (GRCm39)	S343P	probably benign	Het
Tenm2	T	A	11: 35,959,153 (GRCm39)	D1132V	probably damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Top1	G	A	2: 160,544,744 (GRCm39)		probably null	Het
Tox3	G	T	8: 90,975,533 (GRCm39)	T366K	possibly damaging	Het
Tph2	G	A	10: 114,955,798 (GRCm39)	Q332*	probably null	Het
Zfr2	T	G	10: 81,081,913 (GRCm39)	V493G	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
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

PCR Primer
(F):5'- GAGTCCATCCTTGACTGTGG -3'
(R):5'- CTGGGTCAGAAGAAGCTGTG -3'

Sequencing Primer
(F):5'- ATCCTTGACTGTGGCGCTCAG -3'
(R):5'- CCATCTGGGTGAGCAGAGTG -3'

Posted On

2015-01-23