Mutagenetix > Incidental Mutation

Incidental Mutation 'R4599:Rundc1'

345462

Institutional Source

Beutler Lab

Gene Symbol

Rundc1

Ensembl Gene

ENSMUSG00000035007

Gene Name

RUN domain containing 1

Synonyms

MMRRC Submission

041815-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.760) question?

Stock #

R4599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101315910-101326492 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101324752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 486 (N486S)

Ref Sequence

ENSEMBL: ENSMUSP00000042151 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040561]

AlphaFold

Q0VDN7

Predicted Effect

probably damaging
Transcript: ENSMUST00000040561
AA Change: N486S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042151
Gene: ENSMUSG00000035007
AA Change: N486S

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,854,626 (GRCm39)	V930A	probably benign	Het
Ankrd13b	T	C	11: 77,362,494 (GRCm39)	R677G	probably benign	Het
Apc	T	A	18: 34,451,040 (GRCm39)	Y2611*	probably null	Het
Apold1	A	G	6: 134,961,032 (GRCm39)	Y162C	probably damaging	Het
Atp6v0a4	T	C	6: 38,055,737 (GRCm39)	I325V	probably benign	Het
Cab39	A	G	1: 85,776,050 (GRCm39)	Y249C	probably damaging	Het
Cd22	T	A	7: 30,575,325 (GRCm39)	H239L	probably damaging	Het
Chrna7	A	G	7: 62,753,538 (GRCm39)	M327T	probably damaging	Het
Cimip2b	T	C	4: 43,427,574 (GRCm39)	H250R	possibly damaging	Het
Clock	T	C	5: 76,383,657 (GRCm39)	M499V	probably benign	Het
Clspn	A	G	4: 126,475,253 (GRCm39)	E1002G	probably benign	Het
Clta	C	T	4: 44,012,819 (GRCm39)	P10S	probably damaging	Het
Col5a3	A	G	9: 20,685,855 (GRCm39)		probably null	Het
Coq6	T	C	12: 84,408,913 (GRCm39)	V30A	probably benign	Het
Csmd2	G	T	4: 127,881,921 (GRCm39)	R20L	probably benign	Het
D430041D05Rik	A	T	2: 104,038,528 (GRCm39)	V1547D	probably damaging	Het
Dapk1	C	T	13: 60,865,861 (GRCm39)	P153S	probably benign	Het
Dock2	T	A	11: 34,189,536 (GRCm39)	Y1545F	probably damaging	Het
Dpp6	G	T	5: 27,839,546 (GRCm39)	G354C	probably damaging	Het
Dyrk1b	T	C	7: 27,881,856 (GRCm39)	L105P	probably damaging	Het
Epor	A	G	9: 21,873,155 (GRCm39)	S86P	probably benign	Het
Gale	C	A	4: 135,695,148 (GRCm39)	S341*	probably null	Het
Galnt4	T	A	10: 98,945,355 (GRCm39)	V360E	probably damaging	Het
Gart	A	T	16: 91,419,833 (GRCm39)	C24*	probably null	Het
Gcnt2	G	T	13: 41,040,966 (GRCm39)	V42L	probably benign	Het
Herc6	A	G	6: 57,636,698 (GRCm39)	I805V	probably benign	Het
Ints12	T	A	3: 132,804,214 (GRCm39)	I67N	probably benign	Het
Irx1	C	A	13: 72,108,232 (GRCm39)	R150L	probably damaging	Het
Kif26b	A	G	1: 178,358,024 (GRCm39)	Y45C	unknown	Het
Krt35	T	C	11: 99,984,834 (GRCm39)	T275A	probably damaging	Het
Laptm5	G	T	4: 130,643,316 (GRCm39)		probably benign	Het
Lin7a	T	C	10: 107,248,027 (GRCm39)	S111P	unknown	Het
Med27	A	G	2: 29,414,470 (GRCm39)	D159G	probably damaging	Het
Msh2	A	G	17: 88,016,006 (GRCm39)	K546R	probably damaging	Het
Myo1a	A	T	10: 127,556,020 (GRCm39)		probably null	Het
Myo1c	T	C	11: 75,559,019 (GRCm39)	F604L	probably damaging	Het
Myrip	A	G	9: 120,293,850 (GRCm39)	K782E	probably damaging	Het
Ndc80	T	C	17: 71,828,063 (GRCm39)	D88G	probably damaging	Het
Nrxn2	A	G	19: 6,505,282 (GRCm39)	D375G	probably damaging	Het
Or2y10	T	C	11: 49,455,545 (GRCm39)	S266P	probably damaging	Het
Or52e7	A	G	7: 104,685,280 (GRCm39)	I292V	probably benign	Het
Padi3	T	C	4: 140,525,422 (GRCm39)	H187R	probably damaging	Het
Pcdhgb1	A	T	18: 37,814,610 (GRCm39)	N367I	probably damaging	Het
Pdrg1	T	C	2: 152,854,310 (GRCm39)	I77V	probably benign	Het
Pfas	T	C	11: 68,881,895 (GRCm39)	E930G	probably benign	Het
Pik3cb	C	T	9: 98,943,817 (GRCm39)	R662Q	probably benign	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Plxnd1	A	T	6: 115,971,237 (GRCm39)	V177E	probably damaging	Het
Prmt7	A	G	8: 106,976,961 (GRCm39)	S558G	possibly damaging	Het
Pspc1	A	C	14: 57,015,246 (GRCm39)		probably null	Het
Rilp	T	C	11: 75,403,586 (GRCm39)	S343P	probably benign	Het
Ror1	A	G	4: 100,265,107 (GRCm39)	M194V	probably damaging	Het
Rsu1	T	C	2: 13,174,815 (GRCm39)	Y225C	probably damaging	Het
Sema6d	T	A	2: 124,496,151 (GRCm39)	I65N	probably damaging	Het
Slc5a11	A	G	7: 122,857,601 (GRCm39)	E230G	probably benign	Het
Spint1	T	C	2: 119,076,941 (GRCm39)	S342P	probably damaging	Het
Stard3nl	A	G	13: 19,551,923 (GRCm39)	S214P	probably damaging	Het
Tcp10a	A	C	17: 7,604,323 (GRCm39)	T271P	probably damaging	Het
Tie1	A	G	4: 118,329,831 (GRCm39)	Y1091H	probably benign	Het
Tlr12	T	C	4: 128,511,125 (GRCm39)	Y375C	probably benign	Het
Tmem107	T	A	11: 68,962,274 (GRCm39)	M77K	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tns3	T	C	11: 8,481,747 (GRCm39)	K202E	probably damaging	Het
Tspoap1	C	T	11: 87,670,347 (GRCm39)	P1634L	probably damaging	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Ush2a	A	G	1: 188,643,844 (GRCm39)	N4402S	probably benign	Het
Vmn2r13	A	T	5: 109,304,322 (GRCm39)	I703N	probably damaging	Het
Xrcc4	A	G	13: 90,210,126 (GRCm39)		probably null	Het
Zp3	A	T	5: 136,013,089 (GRCm39)	K168*	probably null	Het

Other mutations in Rundc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:Rundc1	APN	11	101,325,100 (GRCm39)	missense	probably damaging	1.00
IGL01068:Rundc1	APN	11	101,324,968 (GRCm39)	missense	probably damaging	0.96
IGL02112:Rundc1	APN	11	101,324,425 (GRCm39)	missense	probably benign	0.01
R0379:Rundc1	UTSW	11	101,315,973 (GRCm39)	missense	probably benign	0.01
R1847:Rundc1	UTSW	11	101,324,507 (GRCm39)	missense	probably benign
R1959:Rundc1	UTSW	11	101,322,322 (GRCm39)	missense	probably damaging	1.00
R2185:Rundc1	UTSW	11	101,316,157 (GRCm39)	missense	probably benign	0.34
R2225:Rundc1	UTSW	11	101,322,170 (GRCm39)	splice site	probably benign
R2323:Rundc1	UTSW	11	101,316,101 (GRCm39)	missense	probably damaging	0.98
R3791:Rundc1	UTSW	11	101,325,027 (GRCm39)	missense	probably damaging	0.96
R4660:Rundc1	UTSW	11	101,324,830 (GRCm39)	missense	possibly damaging	0.89
R4871:Rundc1	UTSW	11	101,324,874 (GRCm39)	missense	probably benign	0.18
R5054:Rundc1	UTSW	11	101,315,967 (GRCm39)	missense	probably benign	0.00
R5058:Rundc1	UTSW	11	101,316,363 (GRCm39)	missense	probably benign
R6349:Rundc1	UTSW	11	101,324,988 (GRCm39)	missense	probably benign	0.07
R6965:Rundc1	UTSW	11	101,324,737 (GRCm39)	missense	possibly damaging	0.96
R7240:Rundc1	UTSW	11	101,322,374 (GRCm39)	critical splice donor site	probably null
R7286:Rundc1	UTSW	11	101,320,413 (GRCm39)	missense	probably benign	0.00
R7624:Rundc1	UTSW	11	101,324,305 (GRCm39)	missense	possibly damaging	0.88
R8243:Rundc1	UTSW	11	101,316,384 (GRCm39)	missense	probably benign	0.00
R8322:Rundc1	UTSW	11	101,322,992 (GRCm39)	missense	probably benign	0.01
R8401:Rundc1	UTSW	11	101,324,383 (GRCm39)	missense	probably damaging	0.99
R8934:Rundc1	UTSW	11	101,322,327 (GRCm39)	missense	probably damaging	1.00
R9081:Rundc1	UTSW	11	101,316,053 (GRCm39)	missense	probably damaging	0.99
Z1176:Rundc1	UTSW	11	101,324,560 (GRCm39)	missense	probably damaging	1.00
Z1176:Rundc1	UTSW	11	101,322,948 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACGTCATCACTTCGGCCAAC -3'
(R):5'- CGCCTTCAGTTCTGAGTCAG -3'

Sequencing Primer
(F):5'- ATGAGCTGACCACGGTTG -3'
(R):5'- TCAGTTCTGAGTCAGCGCTGC -3'

Posted On

2015-09-25