Mutagenetix > Incidental Mutation

Incidental Mutation 'R5058:Rundc1'

391040

Institutional Source

Beutler Lab

Gene Symbol

Rundc1

Ensembl Gene

ENSMUSG00000035007

Gene Name

RUN domain containing 1

Synonyms

MMRRC Submission

042648-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.825) question?

Stock #

R5058 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

101425085-101435673 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101425537 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 145 (L145P)

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: L145P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000042151
Gene: ENSMUSG00000035007
AA Change: L145P

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.2%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	C	8: 13,242,625	Y222C	probably damaging	Het
Adprhl2	A	G	4: 126,318,445	S94P	probably damaging	Het
Atp11b	A	G	3: 35,809,361	E202G	probably benign	Het
Cacna1d	G	T	14: 30,114,244	S849*	probably null	Het
Camsap1	T	C	2: 25,939,363	D783G	probably benign	Het
Cbfa2t2	T	A	2: 154,504,745	I124N	probably damaging	Het
Ccdc13	A	T	9: 121,817,547		probably benign	Het
Cfap44	G	A	16: 44,420,204		probably null	Het
Col17a1	C	A	19: 47,685,550	E13*	probably null	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dennd6b	A	G	15: 89,187,350	L288P	possibly damaging	Het
Dhx37	A	C	5: 125,422,231	Y638D	probably benign	Het
Epb41	G	A	4: 132,007,435		probably benign	Het
Esp31	A	T	17: 38,644,609	I48L	possibly damaging	Het
Fat3	T	C	9: 15,996,858	Q2616R	probably damaging	Het
Fbxo33	A	G	12: 59,219,133	I116T	probably benign	Het
Flnb	G	T	14: 7,924,262	E1792*	probably null	Het
Fzd2	G	A	11: 102,604,807	G26R	probably damaging	Het
Gm11677	T	A	11: 111,725,438		noncoding transcript	Het
Gm7137	A	T	10: 77,788,071		probably benign	Het
Hnrnpr	A	G	4: 136,336,337	T252A	possibly damaging	Het
Hyal5	T	C	6: 24,891,485	F433L	probably damaging	Het
Kcnmb4	T	A	10: 116,463,928		probably benign	Het
Meltf	A	G	16: 31,887,603		probably null	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Muc6	T	C	7: 141,644,224	D1213G	probably benign	Het
Ncam1	A	C	9: 49,798,695	F12C	probably benign	Het
Nfxl1	A	T	5: 72,556,239	D120E	probably benign	Het
Nrg1	T	C	8: 31,824,559	Q142R	probably damaging	Het
Olfr132	G	A	17: 38,130,541	S217F	probably damaging	Het
Olfr180	T	C	16: 58,916,072	T190A	probably benign	Het
Olfr250	C	A	9: 38,367,924	T116K	probably damaging	Het
Olfr347	T	G	2: 36,734,999	L226R	possibly damaging	Het
Olfr466	C	A	13: 65,152,929	A235D	possibly damaging	Het
Olfr684	T	C	7: 105,157,148	N178S	probably damaging	Het
Olfr948	C	A	9: 39,318,664	V317L	probably benign	Het
Olfr95	A	G	17: 37,211,667	L62P	probably damaging	Het
Padi2	G	T	4: 140,932,121	V246L	probably benign	Het
Pgghg	C	T	7: 140,942,542	T63I	possibly damaging	Het
Pitpnm1	A	G	19: 4,112,758	N1117S	probably benign	Het
Plch1	G	T	3: 63,722,781	T534K	probably damaging	Het
Poc1a	G	T	9: 106,349,813		probably benign	Het
Polr3c	T	C	3: 96,723,517	I196V	probably benign	Het
Prph	A	T	15: 99,055,232		probably benign	Het
Ptprg	C	A	14: 12,037,387	T189K	possibly damaging	Het
R3hcc1	A	T	14: 69,704,014	I183N	probably damaging	Het
Slc26a3	A	G	12: 31,470,965	K723E	possibly damaging	Het
Slc38a3	T	C	9: 107,659,191	E2G	possibly damaging	Het
Slc9a5	G	T	8: 105,355,858	V252L	probably benign	Het
Smim26	C	T	2: 144,595,123	T64M	probably benign	Het
Socs4	C	T	14: 47,290,132	R175*	probably null	Het
Srebf2	T	C	15: 82,182,050	S600P	probably damaging	Het
Tas2r107	A	T	6: 131,659,742	S115T	probably damaging	Het
Tenm2	T	C	11: 36,207,080	D447G	possibly damaging	Het
Thbs2	T	A	17: 14,676,329	D766V	probably damaging	Het
Tinagl1	A	G	4: 130,167,457	V300A	probably benign	Het
Tle6	T	A	10: 81,594,238	N332I	possibly damaging	Het
Tle6	C	A	10: 81,595,957	W151L	probably damaging	Het
Tnfrsf13c	C	T	15: 82,224,207	V36M	probably damaging	Het
Tns2	T	C	15: 102,107,860	I211T	possibly damaging	Het
Trp63	A	G	16: 25,882,594	N379D	probably damaging	Het
Trpc2	T	C	7: 102,089,109	W433R	probably damaging	Het
Tyw1	T	A	5: 130,277,086	L350Q	probably benign	Het
Usf3	T	C	16: 44,212,707	L76P	probably damaging	Het
Vmn2r79	T	C	7: 87,002,215	L274P	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
R5054:Rundc1	UTSW	11	101425141	missense	probably benign	0.00
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'- AGCTAGGAACTGTGGTGACC -3'
(R):5'- CTATAGTACTTCCAGCTCGGTCG -3'

Sequencing Primer
(F):5'- AACTGTGGTGACCGCTGTC -3'
(R):5'- AGCTCGGTCGCTCCTCAC -3'

Posted On

2016-06-06