Mutagenetix > Incidental Mutation

Incidental Mutation 'R7369:Rundc3a'

572020

Institutional Source

Beutler Lab

Gene Symbol

Rundc3a

Ensembl Gene

ENSMUSG00000006575

Gene Name

RUN domain containing 3A

Synonyms

Rpip8, Rap2ip

MMRRC Submission

045453-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R7369 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102284229-102293381 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102290721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 268 (L268Q)

Ref Sequence

ENSEMBL: ENSMUSP00000006750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006750] [ENSMUST00000018821] [ENSMUST00000107098] [ENSMUST00000107102] [ENSMUST00000107103] [ENSMUST00000107105] [ENSMUST00000124755] [ENSMUST00000130436] [ENSMUST00000134669] [ENSMUST00000142097] [ENSMUST00000149777] [ENSMUST00000154001] [ENSMUST00000155104]

AlphaFold

O08576

Predicted Effect

probably damaging
Transcript: ENSMUST00000006750
AA Change: L268Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000006750
Gene: ENSMUSG00000006575
AA Change: L268Q

Domain	Start	End	E-Value	Type
RUN	125	187	2.34e-19	SMART
coiled coil region	267	322	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000018821

SMART Domains

Protein: ENSMUSP00000018821
Gene: ENSMUSG00000018677

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	7	156	6.9e-23	PFAM
Pfam:Mito_carr	158	247	6.1e-19	PFAM
Pfam:Mito_carr	251	352	1.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107098

SMART Domains

Protein: ENSMUSP00000102715
Gene: ENSMUSG00000018677

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	7	148	1.4e-21	PFAM
Pfam:Mito_carr	150	240	3.7e-19	PFAM
Pfam:Mito_carr	243	344	4.6e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107102
AA Change: L268Q

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

SMART Domains

Protein: ENSMUSP00000102719
Gene: ENSMUSG00000006575
AA Change: L268Q

Domain	Start	End	E-Value	Type
RUN	125	187	2.34e-19	SMART
coiled coil region	267	322	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107103
AA Change: L263Q

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

SMART Domains

Protein: ENSMUSP00000102720
Gene: ENSMUSG00000006575
AA Change: L263Q

Domain	Start	End	E-Value	Type
RUN	120	182	2.34e-19	SMART
coiled coil region	262	317	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107105
AA Change: L268Q

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

SMART Domains

Protein: ENSMUSP00000102722
Gene: ENSMUSG00000006575
AA Change: L268Q

Domain	Start	End	E-Value	Type
RUN	125	187	2.34e-19	SMART
coiled coil region	267	320	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124755

SMART Domains

Protein: ENSMUSP00000120021
Gene: ENSMUSG00000018677

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	7	71	1.3e-9	PFAM
Pfam:Mito_carr	92	152	9.7e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128825

SMART Domains

Protein: ENSMUSP00000121790
Gene: ENSMUSG00000018677

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	35	77	6.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130436

SMART Domains

Protein: ENSMUSP00000115087
Gene: ENSMUSG00000018677

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	7	70	1.8e-9	PFAM
Pfam:Mito_carr	92	156	5.7e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134669

SMART Domains

Protein: ENSMUSP00000114481
Gene: ENSMUSG00000018677

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	7	69	1.9e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142097

SMART Domains

Protein: ENSMUSP00000114365
Gene: ENSMUSG00000018677

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	7	63	2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149777

SMART Domains

Protein: ENSMUSP00000115365
Gene: ENSMUSG00000018677

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	7	70	2.7e-9	PFAM
Pfam:Mito_carr	92	156	8.7e-15	PFAM
Pfam:Mito_carr	158	220	6.5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154001

SMART Domains

Protein: ENSMUSP00000116336
Gene: ENSMUSG00000018677

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	7	70	3.1e-10	PFAM
Pfam:Mito_carr	92	156	9.8e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155104

SMART Domains

Protein: ENSMUSP00000115445
Gene: ENSMUSG00000018677

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	7	69	3.7e-9	PFAM
Pfam:Mito_carr	92	156	1.2e-14	PFAM
Pfam:Mito_carr	158	248	5.4e-21	PFAM

Meta Mutation Damage Score

0.2633

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (77/77)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L13Rik	C	T	7: 29,989,377 (GRCm39)	L196F	unknown	Het
Ahr	A	T	12: 35,554,659 (GRCm39)	W487R	possibly damaging	Het
Apaf1	A	G	10: 90,836,898 (GRCm39)	S1060P	probably damaging	Het
Atf7	G	T	15: 102,462,244 (GRCm39)	P126H	probably damaging	Het
B3gnt5	C	A	16: 19,588,410 (GRCm39)	Q210K	probably benign	Het
Begain	T	C	12: 108,999,853 (GRCm39)	Y306C	possibly damaging	Het
Car5a	T	C	8: 122,650,573 (GRCm39)	K157R	probably benign	Het
Car5b	A	C	X: 162,797,836 (GRCm39)	S35R	probably benign	Het
Cdh6	A	G	15: 13,042,724 (GRCm39)	V478A	probably damaging	Het
Cdyl	A	G	13: 35,999,992 (GRCm39)	E91G	probably damaging	Het
Cep135	A	C	5: 76,741,100 (GRCm39)	K59Q	possibly damaging	Het
Clec2m	T	A	6: 129,308,496 (GRCm39)	Q11L	possibly damaging	Het
Cnot3	T	A	7: 3,656,330 (GRCm39)	D205E	possibly damaging	Het
Dgkd	G	A	1: 87,849,344 (GRCm39)	G379R	probably damaging	Het
Dppa1	T	A	11: 46,506,944 (GRCm39)		probably null	Het
Dsp	G	T	13: 38,381,501 (GRCm39)	V2749F	possibly damaging	Het
E2f4	A	G	8: 106,026,966 (GRCm39)	K177E	probably benign	Het
Efcab5	G	A	11: 77,008,661 (GRCm39)	P819L	possibly damaging	Het
Ercc5	T	A	1: 44,220,020 (GRCm39)	S1097R	probably benign	Het
Erp44	T	C	4: 48,218,183 (GRCm39)	N162S	probably benign	Het
Evl	A	G	12: 108,652,824 (GRCm39)	Y423C	unknown	Het
Fam78a	T	A	2: 31,959,699 (GRCm39)	N137I	probably damaging	Het
Fcrl2	T	C	3: 87,164,008 (GRCm39)	N374D	possibly damaging	Het
Fcrla	T	G	1: 170,749,886 (GRCm39)	D57A	probably benign	Het
Gm7145	A	T	1: 117,913,838 (GRCm39)	H240L	probably benign	Het
Kdm5a	T	A	6: 120,408,965 (GRCm39)	N1549K	possibly damaging	Het
Kirrel1	C	T	3: 87,048,391 (GRCm39)	R9H	probably benign	Het
Klf7	T	C	1: 64,160,300 (GRCm39)		probably null	Het
Lce1d	G	A	3: 92,593,390 (GRCm39)	Q8*	probably null	Het
Lcn4	T	C	2: 26,557,906 (GRCm39)	H180R	probably benign	Het
Lmntd1	T	A	6: 145,359,301 (GRCm39)	Y283F	probably damaging	Het
Lrp1b	C	T	2: 41,172,051 (GRCm39)	R1646K		Het
Map3k21	C	A	8: 126,637,855 (GRCm39)	A147E	possibly damaging	Het
Mapk8ip2	T	C	15: 89,338,454 (GRCm39)	S11P	probably benign	Het
Mdn1	T	A	4: 32,773,375 (GRCm39)	F5518L	probably damaging	Het
Msh3	T	A	13: 92,435,770 (GRCm39)	T510S	probably benign	Het
Myh1	A	T	11: 67,111,524 (GRCm39)	Q1654H	probably damaging	Het
Ncbp3	T	C	11: 72,968,747 (GRCm39)	V506A	probably benign	Het
Nfkbiz	A	G	16: 55,642,209 (GRCm39)	S70P	probably damaging	Het
Nmi	T	C	2: 51,840,096 (GRCm39)	D215G	possibly damaging	Het
Nphp3	T	C	9: 103,895,449 (GRCm39)	S496P	probably damaging	Het
Nrp1	T	A	8: 129,158,396 (GRCm39)	C228S	probably damaging	Het
Or6c5c	A	T	10: 129,299,390 (GRCm39)	M282L	probably benign	Het
Pcdh9	C	A	14: 94,123,803 (GRCm39)	R789L	possibly damaging	Het
Pigr	A	T	1: 130,769,503 (GRCm39)	T105S	probably benign	Het
Polr2a	A	C	11: 69,636,803 (GRCm39)	S383A	probably benign	Het
Prr35	G	A	17: 26,166,934 (GRCm39)	S201L	probably damaging	Het
Psd3	T	A	8: 68,356,818 (GRCm39)	H634L	possibly damaging	Het
Ptgr2	T	G	12: 84,339,080 (GRCm39)		probably benign	Het
Ptk6	A	G	2: 180,840,254 (GRCm39)	Y251H	possibly damaging	Het
Rnf213	A	G	11: 119,321,294 (GRCm39)	T1251A		Het
Rtkn2	A	G	10: 67,877,259 (GRCm39)	K443E	probably damaging	Het
Serpinb5	A	G	1: 106,802,879 (GRCm39)	E138G	probably benign	Het
Shroom1	A	T	11: 53,356,075 (GRCm39)	D375V	probably benign	Het
Siglecf	A	G	7: 43,001,241 (GRCm39)	T70A	probably damaging	Het
Slc20a2	A	T	8: 23,051,416 (GRCm39)	E483V	probably benign	Het
Slc49a3	A	G	5: 108,593,394 (GRCm39)	V148A	probably benign	Het
Sort1	G	A	3: 108,258,996 (GRCm39)	G676D	probably damaging	Het
Spef2	T	C	15: 9,584,293 (GRCm39)	S1581G	probably benign	Het
Stx6	C	T	1: 155,073,130 (GRCm39)	R214*	probably null	Het
Stxbp5l	A	G	16: 36,954,703 (GRCm39)	I950T	probably benign	Het
Tdrd7	T	A	4: 46,013,239 (GRCm39)	C660S	possibly damaging	Het
Tgm4	T	A	9: 122,885,749 (GRCm39)		probably null	Het
Tmem67	T	C	4: 12,053,535 (GRCm39)	Y671C	probably damaging	Het
Ttc6	A	T	12: 57,719,717 (GRCm39)		probably null	Het
Tut7	A	G	13: 59,929,867 (GRCm39)	I1458T	possibly damaging	Het
Uba2	A	G	7: 33,850,239 (GRCm39)	S405P	possibly damaging	Het
Usp34	T	C	11: 23,382,361 (GRCm39)	I2043T		Het
Vmn1r12	T	A	6: 57,136,683 (GRCm39)	I260N	possibly damaging	Het
Vmn1r172	C	T	7: 23,360,030 (GRCm39)	T305I	unknown	Het
Vmn2r24	T	C	6: 123,792,638 (GRCm39)	V655A	probably damaging	Het
Wdr33	T	C	18: 32,019,719 (GRCm39)	S464P	probably benign	Het
Zfp260	T	A	7: 29,804,750 (GRCm39)	C217S	probably damaging	Het
Zfp760	A	G	17: 21,942,214 (GRCm39)	E463G	probably benign	Het
Zhx1	A	G	15: 57,916,696 (GRCm39)	Y517H	probably damaging	Het

Other mutations in Rundc3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01150:Rundc3a	APN	11	102,284,602 (GRCm39)	missense	probably benign	0.43
IGL02206:Rundc3a	APN	11	102,290,460 (GRCm39)	nonsense	probably null
IGL02306:Rundc3a	APN	11	102,291,764 (GRCm39)	missense	probably damaging	1.00
IGL02838:Rundc3a	APN	11	102,288,521 (GRCm39)	splice site	probably benign
R0173:Rundc3a	UTSW	11	102,289,071 (GRCm39)	unclassified	probably benign
R1745:Rundc3a	UTSW	11	102,291,739 (GRCm39)	frame shift	probably null
R1746:Rundc3a	UTSW	11	102,291,739 (GRCm39)	frame shift	probably null
R2208:Rundc3a	UTSW	11	102,292,914 (GRCm39)	missense	probably damaging	1.00
R2366:Rundc3a	UTSW	11	102,288,491 (GRCm39)	missense	probably damaging	1.00
R2994:Rundc3a	UTSW	11	102,291,489 (GRCm39)	missense	probably damaging	1.00
R3755:Rundc3a	UTSW	11	102,290,085 (GRCm39)	missense	possibly damaging	0.48
R3756:Rundc3a	UTSW	11	102,290,085 (GRCm39)	missense	possibly damaging	0.48
R5519:Rundc3a	UTSW	11	102,292,857 (GRCm39)	missense	probably benign	0.01
R5748:Rundc3a	UTSW	11	102,290,225 (GRCm39)	missense	possibly damaging	0.63
R6361:Rundc3a	UTSW	11	102,291,621 (GRCm39)	missense	probably damaging	1.00
R6722:Rundc3a	UTSW	11	102,290,775 (GRCm39)	missense	possibly damaging	0.73
R6819:Rundc3a	UTSW	11	102,289,287 (GRCm39)	nonsense	probably null
R7324:Rundc3a	UTSW	11	102,290,799 (GRCm39)	missense	possibly damaging	0.80
R7437:Rundc3a	UTSW	11	102,289,230 (GRCm39)	missense	probably damaging	1.00
R7439:Rundc3a	UTSW	11	102,290,872 (GRCm39)	critical splice donor site	probably null
R7441:Rundc3a	UTSW	11	102,290,872 (GRCm39)	critical splice donor site	probably null
R7542:Rundc3a	UTSW	11	102,290,871 (GRCm39)	missense	probably benign	0.44
R7802:Rundc3a	UTSW	11	102,290,835 (GRCm39)	missense	probably benign	0.18
R9144:Rundc3a	UTSW	11	102,290,862 (GRCm39)	missense	probably benign	0.04
R9356:Rundc3a	UTSW	11	102,292,890 (GRCm39)	missense	probably damaging	1.00
R9657:Rundc3a	UTSW	11	102,291,578 (GRCm39)	missense	probably benign	0.01
Z1176:Rundc3a	UTSW	11	102,291,817 (GRCm39)	missense	probably benign	0.02
Z1177:Rundc3a	UTSW	11	102,289,278 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCACCGATGAAGACAGTTGG -3'
(R):5'- GTGTCATCAGAAAAGCGATCCC -3'

Sequencing Primer
(F):5'- TGGTACAACAAGTGGCACAAG -3'
(R):5'- CAGCCAATGGAGTCATGTTG -3'

Posted On

2019-09-13