Mutagenetix > Incidental Mutation

Incidental Mutation 'R4658:Rcc1l'

352588

Institutional Source

Beutler Lab

Gene Symbol

Rcc1l

Ensembl Gene

ENSMUSG00000061979

Gene Name

reculator of chromosome condensation 1 like

Synonyms

5730496C04Rik, Wbscr16

MMRRC Submission

041918-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.698) question?

Stock #

R4658 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134176893-134205613 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 134200729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 134 (N134K)

Ref Sequence

ENSEMBL: ENSMUSP00000075581 (fasta)

Gene Model

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

AlphaFold

Q9CYF5

Predicted Effect

probably damaging
Transcript: ENSMUST00000076228
AA Change: N134K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075581
Gene: ENSMUSG00000061979
AA Change: N134K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192921

Meta Mutation Damage Score

0.6658

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

99% (88/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,338,625 (GRCm39)	R778S	probably damaging	Het
Adam17	A	G	12: 21,382,161 (GRCm39)	C567R	probably damaging	Het
Ankrd28	G	A	14: 31,432,825 (GRCm39)	A758V	probably damaging	Het
Atrn	T	C	2: 130,775,349 (GRCm39)	Y151H	probably damaging	Het
B3gat3	A	G	19: 8,902,996 (GRCm39)	T118A	possibly damaging	Het
Camta1	A	G	4: 151,228,367 (GRCm39)	C822R	probably damaging	Het
Capn15	G	T	17: 26,179,742 (GRCm39)	Q807K	probably benign	Het
Clec12a	T	C	6: 129,331,493 (GRCm39)	Y145H	probably damaging	Het
Clk1	T	C	1: 58,452,146 (GRCm39)	I393V	probably benign	Het
Cpm	A	G	10: 117,503,956 (GRCm39)	I121V	probably benign	Het
Cux1	A	G	5: 136,279,448 (GRCm39)	I405T	possibly damaging	Het
Dnah3	A	G	7: 119,549,874 (GRCm39)	S3471P	probably damaging	Het
Dok6	A	G	18: 89,491,971 (GRCm39)		probably benign	Het
Eif4g1	A	T	16: 20,504,684 (GRCm39)	D1124V	possibly damaging	Het
Eif4g3	A	G	4: 137,933,443 (GRCm39)	E1756G	probably damaging	Het
Exo5	A	G	4: 120,779,748 (GRCm39)	V39A	probably benign	Het
Fmnl1	A	T	11: 103,088,520 (GRCm39)	I90F	probably damaging	Het
Fryl	G	T	5: 73,238,396 (GRCm39)	T1450K	probably damaging	Het
Gde1	T	C	7: 118,293,751 (GRCm39)	M91V	probably benign	Het
Gimd1	T	C	3: 132,350,343 (GRCm39)	I84T	probably damaging	Het
Gm13889	C	T	2: 93,787,453 (GRCm39)		probably benign	Het
Gm6445	T	A	19: 9,585,561 (GRCm39)		noncoding transcript	Het
Gm8113	T	C	14: 44,169,867 (GRCm39)	S483P	probably damaging	Het
Grik2	T	C	10: 49,399,888 (GRCm39)	I281V	possibly damaging	Het
Grik5	T	C	7: 24,760,152 (GRCm39)		probably benign	Het
Herc1	A	T	9: 66,386,773 (GRCm39)	I3796F	possibly damaging	Het
Hoxb13	A	T	11: 96,085,309 (GRCm39)	D14V	probably benign	Het
Hspg2	A	G	4: 137,261,041 (GRCm39)	Y1645C	probably damaging	Het
Igkv8-16	G	T	6: 70,363,762 (GRCm39)	R87S	probably damaging	Het
Ints1	A	T	5: 139,760,054 (GRCm39)	V140E	possibly damaging	Het
Kbtbd11	C	A	8: 15,078,917 (GRCm39)	D505E	possibly damaging	Het
Kcnu1	G	A	8: 26,427,583 (GRCm39)	C300Y	probably damaging	Het
Kmt2d	G	C	15: 98,750,410 (GRCm39)		probably benign	Het
Lats1	T	C	10: 7,578,493 (GRCm39)	V539A	probably benign	Het
Lipo5	C	T	19: 33,441,922 (GRCm39)	G200D	unknown	Het
Lmo7	C	A	14: 102,124,393 (GRCm39)	A284D	probably damaging	Het
Lyst	G	A	13: 13,809,968 (GRCm39)	R546H	probably damaging	Het
Mcpt8	T	C	14: 56,321,285 (GRCm39)	M60V	possibly damaging	Het
Mdn1	A	G	4: 32,730,749 (GRCm39)		probably null	Het
Mphosph10	A	G	7: 64,038,722 (GRCm39)		probably null	Het
Muc5b	G	A	7: 141,395,135 (GRCm39)	S47N	unknown	Het
Notch3	A	T	17: 32,373,737 (GRCm39)	N490K	probably damaging	Het
Nr1d1	G	A	11: 98,662,738 (GRCm39)	S85L	possibly damaging	Het
Obscn	T	A	11: 58,945,114 (GRCm39)	R4635*	probably null	Het
Or10al5	G	T	17: 38,063,054 (GRCm39)	C103F	probably damaging	Het
Or13f5	T	C	4: 52,826,240 (GRCm39)	L281P	probably damaging	Het
Or9i16	T	C	19: 13,864,912 (GRCm39)	I221V	probably benign	Het
Pappa	G	A	4: 65,233,033 (GRCm39)		probably null	Het
Pcdhb17	G	A	18: 37,619,652 (GRCm39)	G481S	probably damaging	Het
Pde1a	TCC	TC	2: 79,728,525 (GRCm39)		probably benign	Het
Phf3	A	T	1: 30,902,169 (GRCm39)	M48K	probably damaging	Het
Pira2	A	T	7: 3,843,933 (GRCm39)	V613E	probably damaging	Het
Poc1a	T	C	9: 106,226,887 (GRCm39)	S327P	possibly damaging	Het
Ptpn9	A	G	9: 56,927,321 (GRCm39)	H66R	probably benign	Het
Rabgap1	C	T	2: 37,377,561 (GRCm39)	R353*	probably null	Het
Rims1	G	A	1: 22,497,793 (GRCm39)	T787I	probably damaging	Het
Rreb1	T	G	13: 38,132,777 (GRCm39)	S1651A	probably damaging	Het
Rsl1d1	T	C	16: 11,019,238 (GRCm39)	D100G	probably damaging	Het
Samd4	C	T	14: 47,301,703 (GRCm39)	R147C	probably damaging	Het
Serpinb6e	T	C	13: 34,025,299 (GRCm39)		probably benign	Het
Ska1	T	C	18: 74,330,111 (GRCm39)	I210V	probably benign	Het
Slc17a1	A	G	13: 24,062,543 (GRCm39)	I237V	probably benign	Het
Slc22a4	A	T	11: 53,888,336 (GRCm39)	S231T	probably benign	Het
Slc7a4	T	A	16: 17,393,797 (GRCm39)	M66L	probably damaging	Het
Snapc1	A	G	12: 74,030,642 (GRCm39)	T381A	possibly damaging	Het
St6galnac2	C	T	11: 116,575,351 (GRCm39)		probably benign	Het
Taar2	C	T	10: 23,817,401 (GRCm39)	L314F	probably benign	Het
Tmem74b	A	G	2: 151,548,561 (GRCm39)	D96G	probably damaging	Het
Tnfrsf17	T	C	16: 11,131,833 (GRCm39)	F6S	probably benign	Het
Tpp2	G	T	1: 43,993,870 (GRCm39)	G252W	probably damaging	Het
Trf	A	G	9: 103,100,807 (GRCm39)	F209L	probably damaging	Het
Ttn	T	C	2: 76,728,935 (GRCm39)		probably benign	Het
Uhmk1	A	T	1: 170,034,774 (GRCm39)	H311Q	probably damaging	Het
Unc13c	G	T	9: 73,840,108 (GRCm39)	Q248K	probably damaging	Het
Uqcrc2	A	G	7: 120,250,144 (GRCm39)	Y253C	probably damaging	Het
Vmn2r117	A	G	17: 23,697,390 (GRCm39)	F101L	probably benign	Het
Vmn2r43	T	C	7: 8,258,070 (GRCm39)	N381S	probably benign	Het
Zfp879	T	A	11: 50,724,024 (GRCm39)	Y271F	probably damaging	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
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'- TTACCAGAGGCTGACAACAGG -3'
(R):5'- CAGATGATGGCCTACATGTGTG -3'

Sequencing Primer
(F):5'- TAGGCTGGCTTCAAACTCAG -3'
(R):5'- GGCCTACATGTGTGTAAATAGC -3'

Posted On

2015-10-08