Mutagenetix > Incidental Mutation

Incidental Mutation 'R5054:Rundc1'

390724

Institutional Source

Beutler Lab

Gene Symbol

Rundc1

Ensembl Gene

ENSMUSG00000035007

Gene Name

RUN domain containing 1

Synonyms

MMRRC Submission

042644-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.717) question?

Stock #

R5054 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

101425085-101435673 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101425141 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 13 (V13A)

Ref Sequence

ENSEMBL: ENSMUSP00000042151 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040561] [ENSMUST00000093933] [ENSMUST00000103102] [ENSMUST00000107252] [ENSMUST00000107257] [ENSMUST00000107259]

AlphaFold

Q0VDN7

Predicted Effect

probably benign
Transcript: ENSMUST00000040561
AA Change: V13A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000042151
Gene: ENSMUSG00000035007
AA Change: V13A

Domain	Start	End	E-Value	Type
low complexity region	43	75	N/A	INTRINSIC
coiled coil region	80	102	N/A	INTRINSIC
coiled coil region	165	201	N/A	INTRINSIC
low complexity region	327	338	N/A	INTRINSIC
RUN	540	602	2.77e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000093933

SMART Domains

Protein: ENSMUSP00000091465
Gene: ENSMUSG00000097487

Domain	Start	End	E-Value	Type
Pfam:CS	6	80	8.7e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103102

SMART Domains

Protein: ENSMUSP00000099391
Gene: ENSMUSG00000097487

Domain	Start	End	E-Value	Type
Pfam:CS	6	80	7.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107252

SMART Domains

Protein: ENSMUSP00000102873
Gene: ENSMUSG00000097487

Domain	Start	End	E-Value	Type
Pfam:CS	6	80	9.6e-9	PFAM
low complexity region	141	149	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107257

SMART Domains

Protein: ENSMUSP00000102878
Gene: ENSMUSG00000097239

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_2c	91	214	1.4e-8	PFAM
tRNA_SAD	309	352	1.43e-6	SMART
low complexity region	389	406	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107259

SMART Domains

Protein: ENSMUSP00000102880
Gene: ENSMUSG00000097239

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_2c	109	232	3.4e-9	PFAM
tRNA_SAD	327	370	1.43e-6	SMART
low complexity region	407	424	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149706

SMART Domains

Protein: ENSMUSP00000116399
Gene: ENSMUSG00000097487

Domain	Start	End	E-Value	Type
SCOP:d1ejfa_	2	41	6e-11	SMART
PDB:1EJF\|B	2	56	2e-13	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150957

Meta Mutation Damage Score

0.0819

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

94% (67/71)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	G	13: 59,689,501	Y257H	probably damaging	Het
Adam28	C	T	14: 68,617,715	C659Y	probably damaging	Het
Adamtsl2	G	A	2: 27,101,720	E627K	probably damaging	Het
Atad5	T	A	11: 80,094,676	S196R	probably benign	Het
Bcam	T	A	7: 19,756,860		probably benign	Het
Birc6	A	G	17: 74,655,325	H3978R	probably damaging	Het
Btbd7	T	C	12: 102,838,212	I190V	probably benign	Het
Ccdc8	T	C	7: 16,995,045	V153A	probably damaging	Het
Cyp2a5	C	G	7: 26,841,104	R68G	probably damaging	Het
Dock3	T	C	9: 106,937,906	Y1254C	probably damaging	Het
Dync2h1	T	C	9: 7,085,007	E2794G	possibly damaging	Het
Dytn	C	A	1: 63,661,159	V271L	possibly damaging	Het
Eif2s2	A	C	2: 154,892,670		probably null	Het
Fndc7	A	G	3: 108,881,347	S193P	probably damaging	Het
Fzr1	G	A	10: 81,371,419		probably benign	Het
Gm17472	T	C	6: 42,981,004	I69T	probably damaging	Het
Gm5039	T	C	12: 88,321,301	I61V	probably benign	Het
Gmppa	C	A	1: 75,439,371	Y137*	probably null	Het
Gpr45	A	G	1: 43,032,649	I151V	probably benign	Het
H1f0	G	A	15: 79,028,773	A18T	probably damaging	Het
Hbb-bh1	C	T	7: 103,841,856	V114I	probably benign	Het
Impa2	C	A	18: 67,306,727	P98Q	probably damaging	Het
Kazn	T	C	4: 142,108,646	N573D	unknown	Het
Kcna2	A	T	3: 107,104,340	D79V	probably damaging	Het
Kcna7	G	A	7: 45,406,591	R77H	probably damaging	Het
Kif13a	A	G	13: 46,802,646	Y561H	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Klra1	T	A	6: 130,375,284	Q165L	probably damaging	Het
Mat2b	T	A	11: 40,680,042	R318S	probably damaging	Het
Mgat4d	G	A	8: 83,368,208		probably null	Het
Mtor	T	A	4: 148,556,855		probably null	Het
Nostrin	A	T	2: 69,175,713	Q247L	possibly damaging	Het
Obscn	T	C	11: 59,073,617	E3033G	probably damaging	Het
Pam	C	A	1: 97,821,917	D839Y	probably damaging	Het
Pds5a	A	G	5: 65,637,814	V693A	probably damaging	Het
Pigo	A	T	4: 43,021,337	L535Q	probably damaging	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Ptar1	G	T	19: 23,694,365	R44L	probably damaging	Het
Rad51c	T	C	11: 87,397,754	H201R	probably benign	Het
Rims2	A	T	15: 39,517,869		probably null	Het
Rnf219	C	T	14: 104,508,030	G70E	probably damaging	Het
Rpl22l1	T	G	3: 28,806,836	S67A	possibly damaging	Het
Rps10	A	G	17: 27,630,480	S143P	probably damaging	Het
Sephs2	C	A	7: 127,273,392	M176I	probably benign	Het
Serpina16	C	T	12: 103,674,930	V179I	probably benign	Het
Serpini2	T	A	3: 75,259,477	T158S	probably damaging	Het
Slc12a3	A	G	8: 94,346,351	R701G	probably damaging	Het
Slc1a6	A	G	10: 78,814,602	E558G	probably damaging	Het
Ssx2ip	T	C	3: 146,430,917		probably benign	Het
Tbr1	A	T	2: 61,806,002	I241F	possibly damaging	Het
Tgfa	G	C	6: 86,270,082		probably null	Het
Tlr12	T	A	4: 128,617,270	K396*	probably null	Het
Tmppe	A	G	9: 114,405,958	I442V	probably benign	Het
Tubb3	T	C	8: 123,420,868	V180A	probably damaging	Het
Vmn1r222	A	G	13: 23,232,731	V104A	probably damaging	Het
Vmn2r95	G	T	17: 18,451,446	V482L	possibly damaging	Het
Zfp184	G	T	13: 21,959,282	R386L	possibly damaging	Het
Zfp444	T	A	7: 6,189,793	V270E	probably damaging	Het
Zfp985	A	T	4: 147,582,981	Y102F	probably damaging	Het

Other mutations in Rundc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:Rundc1	APN	11	101434274	missense	probably damaging	1.00
IGL01068:Rundc1	APN	11	101434142	missense	probably damaging	0.96
IGL02112:Rundc1	APN	11	101433599	missense	probably benign	0.01
R0379:Rundc1	UTSW	11	101425147	missense	probably benign	0.01
R1847:Rundc1	UTSW	11	101433681	missense	probably benign
R1959:Rundc1	UTSW	11	101431496	missense	probably damaging	1.00
R2185:Rundc1	UTSW	11	101425331	missense	probably benign	0.34
R2225:Rundc1	UTSW	11	101431344	splice site	probably benign
R2323:Rundc1	UTSW	11	101425275	missense	probably damaging	0.98
R3791:Rundc1	UTSW	11	101434201	missense	probably damaging	0.96
R4599:Rundc1	UTSW	11	101433926	missense	probably damaging	1.00
R4660:Rundc1	UTSW	11	101434004	missense	possibly damaging	0.89
R4871:Rundc1	UTSW	11	101434048	missense	probably benign	0.18
R5058:Rundc1	UTSW	11	101425537	missense	probably benign
R6349:Rundc1	UTSW	11	101434162	missense	probably benign	0.07
R6965:Rundc1	UTSW	11	101433911	missense	possibly damaging	0.96
R7240:Rundc1	UTSW	11	101431548	critical splice donor site	probably null
R7286:Rundc1	UTSW	11	101429587	missense	probably benign	0.00
R7624:Rundc1	UTSW	11	101433479	missense	possibly damaging	0.88
R8243:Rundc1	UTSW	11	101425558	missense	probably benign	0.00
R8322:Rundc1	UTSW	11	101432166	missense	probably benign	0.01
R8401:Rundc1	UTSW	11	101433557	missense	probably damaging	0.99
R8934:Rundc1	UTSW	11	101431501	missense	probably damaging	1.00
R9081:Rundc1	UTSW	11	101425227	missense	probably damaging	0.99
Z1176:Rundc1	UTSW	11	101432122	missense	probably benign	0.00
Z1176:Rundc1	UTSW	11	101433734	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGCATTAAAGTCCCGAGGG -3'
(R):5'- AGGCAAAGTCTTCGAGCTCG -3'

Sequencing Primer
(F):5'- CCTCCCGAGATTGGAGG -3'
(R):5'- AGACGGAACTGCACCTGC -3'

Posted On

2016-06-06