Mutagenetix > Incidental Mutation

Incidental Mutation 'R0137:Rccd1'

22032

Institutional Source

Beutler Lab

Gene Symbol

Rccd1

Ensembl Gene

ENSMUSG00000038930

Gene Name

RCC1 domain containing 1

Synonyms

E430018M08Rik

MMRRC Submission

038422-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0137 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

79944339-79974512 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79970326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 97 (V97A)

Ref Sequence

ENSEMBL: ENSMUSP00000113273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032748] [ENSMUST00000047362] [ENSMUST00000047558] [ENSMUST00000107368] [ENSMUST00000121882] [ENSMUST00000123189] [ENSMUST00000163812] [ENSMUST00000173824] [ENSMUST00000174172] [ENSMUST00000174199] [ENSMUST00000154428]

AlphaFold

Q8BTU7

Predicted Effect

probably benign
Transcript: ENSMUST00000032748

SMART Domains

Protein: ENSMUSP00000032748
Gene: ENSMUSG00000030533

Domain	Start	End	E-Value	Type
TPR	21	54	9.53e-2	SMART
TPR	58	91	5.48e-2	SMART
TPR	92	125	7.45e-4	SMART
Blast:ARM	183	224	6e-9	BLAST
Blast:ARM	226	266	1e-7	BLAST
Pfam:UNC45-central	287	505	1.2e-43	PFAM
Blast:ARM	679	717	4e-13	BLAST
Blast:ARM	720	762	4e-12	BLAST
Blast:ARM	764	804	8e-16	BLAST
low complexity region	833	845	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047362
AA Change: V97A

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000048043
Gene: ENSMUSG00000038930
AA Change: V97A

Domain	Start	End	E-Value	Type
low complexity region	10	18	N/A	INTRINSIC
Pfam:RCC1	179	228	2.9e-17	PFAM
Pfam:RCC1_2	215	244	1.3e-10	PFAM
Pfam:RCC1	231	316	7.8e-9	PFAM
Pfam:RCC1_2	303	332	3.3e-10	PFAM
Pfam:RCC1	319	370	4.1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000047558

SMART Domains

Protein: ENSMUSP00000043379
Gene: ENSMUSG00000038943

Domain	Start	End	E-Value	Type
internal_repeat_1	22	36	1.45e-5	PROSPERO
Pfam:MAP65_ASE1	37	602	5.3e-172	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107368

SMART Domains

Protein: ENSMUSP00000102991
Gene: ENSMUSG00000030533

Domain	Start	End	E-Value	Type
TPR	21	54	9.53e-2	SMART
TPR	58	91	5.48e-2	SMART
TPR	92	125	7.45e-4	SMART
Blast:ARM	183	224	6e-9	BLAST
Blast:ARM	226	266	1e-7	BLAST
Pfam:UNC45-central	314	505	2.4e-38	PFAM
Blast:ARM	679	717	4e-13	BLAST
Blast:ARM	720	762	4e-12	BLAST
Blast:ARM	764	804	8e-16	BLAST
low complexity region	833	845	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121882
AA Change: V97A

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113273
Gene: ENSMUSG00000038930
AA Change: V97A

Domain	Start	End	E-Value	Type
low complexity region	10	18	N/A	INTRINSIC
Pfam:RCC1	179	228	7.4e-18	PFAM
Pfam:RCC1_2	216	244	5.5e-10	PFAM
Pfam:RCC1_2	304	332	6.2e-10	PFAM
Pfam:RCC1	319	370	1.3e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123109

Predicted Effect

probably benign
Transcript: ENSMUST00000123189

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155124

Predicted Effect

probably benign
Transcript: ENSMUST00000206363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130888

Predicted Effect

probably benign
Transcript: ENSMUST00000163812

SMART Domains

Protein: ENSMUSP00000129675
Gene: ENSMUSG00000038943

Domain	Start	End	E-Value	Type
internal_repeat_1	22	36	1.51e-5	PROSPERO
Pfam:MAP65_ASE1	37	605	1.9e-173	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173824

SMART Domains

Protein: ENSMUSP00000133910
Gene: ENSMUSG00000038943

Domain	Start	End	E-Value	Type
internal_repeat_1	22	36	8.71e-6	PROSPERO
Pfam:MAP65_ASE1	37	565	6e-168	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174172

SMART Domains

Protein: ENSMUSP00000133387
Gene: ENSMUSG00000038943

Domain	Start	End	E-Value	Type
Pfam:MAP65_ASE1	34	615	2.9e-167	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174199

SMART Domains

Protein: ENSMUSP00000133295
Gene: ENSMUSG00000038943

Domain	Start	End	E-Value	Type
Pfam:MAP65_ASE1	7	524	8.1e-158	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154428

SMART Domains

Protein: ENSMUSP00000119665
Gene: ENSMUSG00000030533

Domain	Start	End	E-Value	Type
TPR	21	54	9.53e-2	SMART
TPR	58	91	5.48e-2	SMART
TPR	92	125	7.45e-4	SMART
Blast:ARM	183	224	4e-9	BLAST
Blast:ARM	226	266	6e-8	BLAST
Pfam:UNC45-central	287	505	3.5e-44	PFAM
low complexity region	597	608	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174051

SMART Domains

Protein: ENSMUSP00000134262
Gene: ENSMUSG00000038943

Domain	Start	End	E-Value	Type
Pfam:MAP65_ASE1	1	244	1.9e-55	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.8%

Validation Efficiency

95% (94/99)

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	T	8: 120,878,115 (GRCm39)	H190L	possibly damaging	Het
Adap1	A	G	5: 139,278,976 (GRCm39)		probably benign	Het
Adgra3	C	T	5: 50,121,182 (GRCm39)		probably benign	Het
Adgre5	A	T	8: 84,451,527 (GRCm39)	V527E	probably damaging	Het
Anapc5	A	T	5: 122,938,695 (GRCm39)	Y360N	probably damaging	Het
Angptl6	C	A	9: 20,789,683 (GRCm39)	A70S	probably benign	Het
Ankdd1a	C	A	9: 65,417,610 (GRCm39)	K137N	probably null	Het
Ccdc170	T	C	10: 4,496,950 (GRCm39)		probably benign	Het
Ccdc51	A	G	9: 108,920,698 (GRCm39)	E195G	probably damaging	Het
Cdc37	A	T	9: 21,053,426 (GRCm39)	C204S	possibly damaging	Het
Cfap36	T	C	11: 29,172,431 (GRCm39)		probably benign	Het
Col6a2	C	A	10: 76,432,259 (GRCm39)	G965C	probably damaging	Het
Csn1s2a	G	A	5: 87,926,826 (GRCm39)	S53N	possibly damaging	Het
Dab2ip	T	C	2: 35,582,388 (GRCm39)		probably null	Het
Dhx58	A	G	11: 100,587,823 (GRCm39)	V578A	probably damaging	Het
Diaph1	G	T	18: 38,024,902 (GRCm39)	Q520K	unknown	Het
Eefsec	C	A	6: 88,274,631 (GRCm39)	K444N	probably benign	Het
Eftud2	A	T	11: 102,759,443 (GRCm39)	H153Q	possibly damaging	Het
Eif5b	T	G	1: 38,058,324 (GRCm39)	S209A	probably benign	Het
Exosc2	T	A	2: 31,562,497 (GRCm39)	Y46N	probably damaging	Het
F2	C	T	2: 91,456,075 (GRCm39)	G562D	probably damaging	Het
Fgf23	G	A	6: 127,057,128 (GRCm39)	G148D	probably damaging	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Fstl5	G	A	3: 76,614,786 (GRCm39)	G179R	probably damaging	Het
Garre1	A	T	7: 33,938,644 (GRCm39)	W246R	probably damaging	Het
Gart	T	A	16: 91,422,282 (GRCm39)	Q745L	probably benign	Het
Gmeb1	T	A	4: 131,959,419 (GRCm39)	M212L	probably benign	Het
Gpaa1	T	C	15: 76,218,981 (GRCm39)	Y548H	probably damaging	Het
Gpatch1	T	C	7: 34,986,667 (GRCm39)	E763G	probably damaging	Het
Grm8	T	A	6: 27,762,389 (GRCm39)	I279F	probably damaging	Het
Hcls1	T	A	16: 36,771,536 (GRCm39)	H147Q	probably damaging	Het
Hpcal1	A	C	12: 17,836,389 (GRCm39)	D73A	probably damaging	Het
Il22ra1	T	C	4: 135,478,317 (GRCm39)	S463P	probably benign	Het
Itgbl1	G	A	14: 124,078,098 (GRCm39)		probably null	Het
Izumo3	G	T	4: 92,035,437 (GRCm39)		probably benign	Het
Kcna5	A	T	6: 126,510,346 (GRCm39)	L594Q	probably damaging	Het
Kif13a	A	T	13: 46,918,079 (GRCm39)	D409E	probably benign	Het
Kif9	A	T	9: 110,314,106 (GRCm39)	I39F	probably damaging	Het
Klri2	C	T	6: 129,709,171 (GRCm39)	R227H	possibly damaging	Het
Lamc3	G	A	2: 31,798,628 (GRCm39)	G445S	probably damaging	Het
Lctl	A	G	9: 64,024,980 (GRCm39)		probably benign	Het
Lrp4	T	C	2: 91,325,327 (GRCm39)	L1384P	probably damaging	Het
Mcm9	G	A	10: 53,439,526 (GRCm39)	S549L	possibly damaging	Het
Ms4a15	G	A	19: 10,956,697 (GRCm39)		probably benign	Het
Mtor	T	C	4: 148,555,081 (GRCm39)	V901A	possibly damaging	Het
Nckap1l	A	T	15: 103,390,391 (GRCm39)	I721F	probably benign	Het
Nemp2	T	C	1: 52,684,588 (GRCm39)	V298A	probably benign	Het
Npc1l1	T	A	11: 6,178,148 (GRCm39)	K421*	probably null	Het
Npr1	C	T	3: 90,363,244 (GRCm39)	V879M	probably damaging	Het
Odad4	A	G	11: 100,454,394 (GRCm39)	E393G	probably damaging	Het
Or2ad1	A	G	13: 21,326,336 (GRCm39)	V297A	possibly damaging	Het
Or51q1c	A	G	7: 103,652,709 (GRCm39)	T82A	probably benign	Het
Osgin1	A	T	8: 120,169,219 (GRCm39)	I39F	possibly damaging	Het
Phip	G	C	9: 82,809,244 (GRCm39)		probably null	Het
Pkdrej	G	T	15: 85,705,768 (GRCm39)	P56Q	possibly damaging	Het
Plcxd2	A	G	16: 45,800,889 (GRCm39)	Y112H	probably damaging	Het
Plekha1	C	T	7: 130,499,176 (GRCm39)	T155M	probably damaging	Het
Prkdc	T	C	16: 15,558,196 (GRCm39)		probably null	Het
Prss1	A	G	6: 41,439,495 (GRCm39)	H76R	probably damaging	Het
Psg23	T	C	7: 18,348,558 (GRCm39)	D83G	probably benign	Het
Ptprd	T	A	4: 76,055,140 (GRCm39)	Q196L	probably benign	Het
Ranbp3l	A	T	15: 9,063,067 (GRCm39)	H292L	probably damaging	Het
Ranbp6	T	C	19: 29,787,097 (GRCm39)	E1085G	probably benign	Het
Rchy1	T	C	5: 92,105,458 (GRCm39)	S48G	probably benign	Het
Rnmt	G	A	18: 68,446,771 (GRCm39)	M265I	probably benign	Het
Robo3	A	T	9: 37,336,640 (GRCm39)	M376K	probably benign	Het
Rrp12	T	C	19: 41,862,289 (GRCm39)	D898G	probably benign	Het
Scg3	A	T	9: 75,570,462 (GRCm39)		probably benign	Het
Sec31b	A	T	19: 44,522,821 (GRCm39)	M57K	probably damaging	Het
Slc17a6	A	C	7: 51,315,892 (GRCm39)	I387L	probably benign	Het
Speer4a1	T	A	5: 26,240,982 (GRCm39)	Q170L	possibly damaging	Het
Srsf9	A	G	5: 115,470,260 (GRCm39)	D146G	possibly damaging	Het
Ss18	A	G	18: 14,788,200 (GRCm39)	M90T	probably damaging	Het
Syna	A	T	5: 134,588,314 (GRCm39)	F212I	possibly damaging	Het
Tex54	A	G	19: 8,718,221 (GRCm39)		probably benign	Het
Thsd1	A	G	8: 22,733,055 (GRCm39)	H34R	probably damaging	Het
Tmem143	T	C	7: 45,547,086 (GRCm39)	I84T	probably benign	Het
Trim50	T	C	5: 135,395,487 (GRCm39)	V281A	probably damaging	Het
Trp53i11	C	A	2: 93,029,696 (GRCm39)		probably benign	Het
Ttll4	C	T	1: 74,718,851 (GRCm39)	T234I	possibly damaging	Het
Ttyh1	A	T	7: 4,127,719 (GRCm39)	I136F	possibly damaging	Het
Ube2f	T	C	1: 91,189,976 (GRCm39)		probably benign	Het
Vcl	T	A	14: 21,037,083 (GRCm39)	L227*	probably null	Het
Vmn1r222	A	C	13: 23,416,974 (GRCm39)	C80G	probably damaging	Het
Vps13b	G	T	15: 35,926,365 (GRCm39)	A3889S	probably benign	Het
Vps8	T	C	16: 21,323,136 (GRCm39)		probably benign	Het
Zbtb44	A	G	9: 30,978,006 (GRCm39)	Y422C	probably damaging	Het
Zfp180	A	G	7: 23,805,158 (GRCm39)	S526G	possibly damaging	Het
Zfp518a	A	C	19: 40,904,310 (GRCm39)	E1413A	probably damaging	Het
Zfp629	T	A	7: 127,210,858 (GRCm39)	Y317F	probably damaging	Het
Zfp804b	T	C	5: 6,820,534 (GRCm39)	E843G	probably benign	Het

Other mutations in Rccd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01915:Rccd1	APN	7	79,969,966 (GRCm39)	unclassified	probably benign
IGL02024:Rccd1	APN	7	79,968,755 (GRCm39)	missense	probably benign	0.00
IGL02747:Rccd1	APN	7	79,970,238 (GRCm39)	missense	probably benign	0.31
IGL02936:Rccd1	APN	7	79,966,794 (GRCm39)	missense	probably damaging	0.97
K3955:Rccd1	UTSW	7	79,970,419 (GRCm39)	missense	probably benign	0.04
R0671:Rccd1	UTSW	7	79,969,965 (GRCm39)	unclassified	probably benign
R0909:Rccd1	UTSW	7	79,968,799 (GRCm39)	splice site	probably null
R1588:Rccd1	UTSW	7	79,969,859 (GRCm39)	nonsense	probably null
R1706:Rccd1	UTSW	7	79,970,411 (GRCm39)	missense	possibly damaging	0.79
R1826:Rccd1	UTSW	7	79,969,966 (GRCm39)	unclassified	probably benign
R1934:Rccd1	UTSW	7	79,970,272 (GRCm39)	missense	possibly damaging	0.64
R2983:Rccd1	UTSW	7	79,970,276 (GRCm39)	nonsense	probably null
R3861:Rccd1	UTSW	7	79,970,116 (GRCm39)	missense	probably benign	0.00
R7387:Rccd1	UTSW	7	79,970,350 (GRCm39)	missense	probably benign	0.26
R7967:Rccd1	UTSW	7	79,968,657 (GRCm39)	missense	possibly damaging	0.86
R8338:Rccd1	UTSW	7	79,970,618 (GRCm39)	missense	possibly damaging	0.91
R9116:Rccd1	UTSW	7	79,970,728 (GRCm39)	missense	probably damaging	1.00
X0022:Rccd1	UTSW	7	79,970,315 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- ATCCAAGAGAGCCTCTCCTTGAGC -3'
(R):5'- CAGCCACCATTCAGTGTACAGTCC -3'

Sequencing Primer
(F):5'- GCAGCACATGCTCAGCTC -3'
(R):5'- CATGCCAGTGATGATATTTGCC -3'

Posted On

2013-04-12