Mutagenetix > Incidental Mutation

Incidental Mutation 'R6312:4930447C04Rik'

509840

Institutional Source

Beutler Lab

Gene Symbol

4930447C04Rik

Ensembl Gene

ENSMUSG00000021098

Gene Name

RIKEN cDNA 4930447C04 gene

Synonyms

Six6os1, Six6as

MMRRC Submission

044415-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R6312 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72926967-72964742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72936541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 472 (S472P)

Ref Sequence

ENSEMBL: ENSMUSP00000106115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044000] [ENSMUST00000110489]

AlphaFold

Q9CTN5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044000
AA Change: S471P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000035376
Gene: ENSMUSG00000021098
AA Change: S471P

Domain	Start	End	E-Value	Type
low complexity region	137	147	N/A	INTRINSIC
coiled coil region	197	233	N/A	INTRINSIC
low complexity region	247	261	N/A	INTRINSIC
low complexity region	264	275	N/A	INTRINSIC
low complexity region	478	489	N/A	INTRINSIC
low complexity region	522	534	N/A	INTRINSIC
low complexity region	552	565	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110489
AA Change: S472P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106115
Gene: ENSMUSG00000021098
AA Change: S472P

Domain	Start	End	E-Value	Type
Pfam:S6OS1	31	575	1.1e-277	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132901

Predicted Effect

probably benign
Transcript: ENSMUST00000143960

SMART Domains

Protein: ENSMUSP00000116391
Gene: ENSMUSG00000021098

Domain	Start	End	E-Value	Type
Pfam:S6OS1	1	70	6.1e-21	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display male and female infertility with meiotic arrest and defective synaptic formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	A	T	4: 144,255,072 (GRCm39)	H164L	probably benign	Het
Abraxas2	G	A	7: 132,476,694 (GRCm39)	A145T	probably damaging	Het
AC153874.1	T	A	10: 77,682,961 (GRCm39)		probably benign	Het
Acadvl	T	A	11: 69,902,593 (GRCm39)	M375L	probably damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arl4d	T	C	11: 101,558,079 (GRCm39)	*202R	probably null	Het
B3gat2	G	T	1: 23,854,548 (GRCm39)	E83*	probably null	Het
Bmper	C	A	9: 23,318,087 (GRCm39)	Q569K	possibly damaging	Het
C2cd4d	C	A	3: 94,271,742 (GRCm39)	P336H	probably damaging	Het
Cct2	A	T	10: 116,891,960 (GRCm39)	S363T	probably benign	Het
Cers5	A	G	15: 99,644,996 (GRCm39)	V119A	probably benign	Het
Cfhr2	C	T	1: 139,758,817 (GRCm39)	V78I	possibly damaging	Het
Crocc2	A	T	1: 93,143,432 (GRCm39)	K1345*	probably null	Het
Cyp4f39	T	C	17: 32,702,268 (GRCm39)	M255T	probably benign	Het
Dpp6	A	T	5: 27,930,669 (GRCm39)	I834F	possibly damaging	Het
Dpy19l4	T	A	4: 11,289,671 (GRCm39)	K205*	probably null	Het
Epg5	T	A	18: 78,022,426 (GRCm39)	D1056E	possibly damaging	Het
Fam20a	A	C	11: 109,565,456 (GRCm39)	C452G	probably damaging	Het
Gnai2	A	T	9: 107,512,316 (GRCm39)	V34E	probably damaging	Het
Gng3	A	G	19: 8,815,997 (GRCm39)	V7A	probably benign	Het
Hdc	A	G	2: 126,449,326 (GRCm39)	V77A	possibly damaging	Het
Hint1	G	A	11: 54,760,816 (GRCm39)	C85Y	probably benign	Het
Kif17	C	T	4: 138,015,504 (GRCm39)	S551L	probably benign	Het
Lgr5	A	G	10: 115,288,829 (GRCm39)	L581P	probably damaging	Het
Lig4	G	T	8: 10,021,739 (GRCm39)	N680K	probably benign	Het
Lipi	T	A	16: 75,370,803 (GRCm39)	Y138F	probably damaging	Het
Lrp2	C	T	2: 69,267,025 (GRCm39)	G4294E	probably damaging	Het
Lrrc7	A	G	3: 157,866,246 (GRCm39)	M1165T	probably benign	Het
Mtpap	T	C	18: 4,396,175 (GRCm39)	I489T	possibly damaging	Het
Nlrp1b	T	A	11: 71,119,223 (GRCm39)	N24I	probably benign	Het
Nlrp4a	A	G	7: 26,148,821 (GRCm39)	T143A	probably benign	Het
Nudt2	A	G	4: 41,480,386 (GRCm39)	T90A	probably benign	Het
Or1j20	A	T	2: 36,760,477 (GRCm39)	I300L	probably benign	Het
Or52n20	T	A	7: 104,320,796 (GRCm39)	Y296N	probably damaging	Het
Or8b36	GTTT	GTTTGCTGTTTT	9: 37,937,842 (GRCm39)		probably null	Het
Or8b36	TTT	TTTGCTGATT	9: 37,937,843 (GRCm39)		probably null	Het
Or8b36	T	TGCTGTTC	9: 37,937,845 (GRCm39)		probably null	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8b36	TTGCTGT	TTGCTGTCTGCTGT	9: 37,937,837 (GRCm39)		probably null	Het
Or8k53	A	T	2: 86,177,925 (GRCm39)	F62I	probably damaging	Het
Osmr	A	G	15: 6,853,119 (GRCm39)	V592A	probably damaging	Het
Rbp2	G	T	9: 98,372,700 (GRCm39)	S13I	probably benign	Het
Rsf1	A	AGGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Rusf1	T	C	7: 127,872,715 (GRCm39)	K411R	probably benign	Het
Slc6a7	A	G	18: 61,135,457 (GRCm39)	S381P	probably benign	Het
Slitrk6	A	G	14: 110,987,679 (GRCm39)	L676P	probably benign	Het
Sspo	T	C	6: 48,434,300 (GRCm39)		probably null	Het
Tectb	CT	C	19: 55,181,094 (GRCm39)		probably null	Homo
Tma16	T	C	8: 66,934,118 (GRCm39)	E79G	probably damaging	Het
Trim14	G	T	4: 46,507,257 (GRCm39)	H320N	probably damaging	Het
Trim63	A	G	4: 134,053,008 (GRCm39)	D323G	probably damaging	Het
Vash2	C	A	1: 190,690,880 (GRCm39)	R309L	probably benign	Het
Vmn1r62	G	A	7: 5,679,083 (GRCm39)	V255M	possibly damaging	Het
Vmn2r53	T	A	7: 12,332,566 (GRCm39)		probably null	Het
Zfp382	G	A	7: 29,833,963 (GRCm39)	R538H	probably damaging	Het
Zfp592	T	A	7: 80,673,184 (GRCm39)	D49E	probably benign	Het
Zfp60	T	C	7: 27,448,201 (GRCm39)	C290R	probably damaging	Het
Zfp69	G	A	4: 120,806,714 (GRCm39)		probably benign	Het
Zfp790	G	T	7: 29,527,647 (GRCm39)	G111W	probably damaging	Het
Zfp948	T	C	17: 21,807,429 (GRCm39)	I207T	possibly damaging	Het

Other mutations in 4930447C04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:4930447C04Rik	APN	12	72,928,160 (GRCm39)	missense	possibly damaging	0.71
IGL01611:4930447C04Rik	APN	12	72,954,644 (GRCm39)	missense	possibly damaging	0.93
IGL02352:4930447C04Rik	APN	12	72,941,829 (GRCm39)	splice site	probably null
IGL02359:4930447C04Rik	APN	12	72,941,829 (GRCm39)	splice site	probably null
FR4304:4930447C04Rik	UTSW	12	72,928,061 (GRCm39)	small deletion	probably benign
R0650:4930447C04Rik	UTSW	12	72,956,830 (GRCm39)	missense	probably damaging	0.99
R0651:4930447C04Rik	UTSW	12	72,956,830 (GRCm39)	missense	probably damaging	0.99
R1271:4930447C04Rik	UTSW	12	72,939,657 (GRCm39)	missense	possibly damaging	0.71
R1321:4930447C04Rik	UTSW	12	72,945,318 (GRCm39)	splice site	probably benign
R1387:4930447C04Rik	UTSW	12	72,962,208 (GRCm39)	missense	probably benign	0.04
R1424:4930447C04Rik	UTSW	12	72,939,669 (GRCm39)	nonsense	probably null
R1440:4930447C04Rik	UTSW	12	72,928,195 (GRCm39)	missense	possibly damaging	0.85
R1538:4930447C04Rik	UTSW	12	72,928,120 (GRCm39)	missense	possibly damaging	0.92
R1694:4930447C04Rik	UTSW	12	72,931,992 (GRCm39)	splice site	probably null
R1888:4930447C04Rik	UTSW	12	72,960,030 (GRCm39)	missense	unknown
R1888:4930447C04Rik	UTSW	12	72,960,030 (GRCm39)	missense	unknown
R2151:4930447C04Rik	UTSW	12	72,954,725 (GRCm39)	splice site	probably null
R4930:4930447C04Rik	UTSW	12	72,953,008 (GRCm39)	missense	possibly damaging	0.71
R4967:4930447C04Rik	UTSW	12	72,956,502 (GRCm39)	nonsense	probably null
R5243:4930447C04Rik	UTSW	12	72,956,543 (GRCm39)	critical splice donor site	probably null
R6825:4930447C04Rik	UTSW	12	72,954,654 (GRCm39)	missense	probably benign	0.32
R7275:4930447C04Rik	UTSW	12	72,956,795 (GRCm39)	missense	possibly damaging	0.71
R8427:4930447C04Rik	UTSW	12	72,950,060 (GRCm39)	missense	possibly damaging	0.86
R8669:4930447C04Rik	UTSW	12	72,949,234 (GRCm39)	missense	probably benign	0.32
R8674:4930447C04Rik	UTSW	12	72,956,696 (GRCm39)	missense	probably benign	0.00
R9065:4930447C04Rik	UTSW	12	72,939,604 (GRCm39)	missense	possibly damaging	0.86
R9801:4930447C04Rik	UTSW	12	72,945,540 (GRCm39)	missense	probably benign	0.12
RF041:4930447C04Rik	UTSW	12	72,928,050 (GRCm39)	small deletion	probably benign
Z1088:4930447C04Rik	UTSW	12	72,986,169 (GRCm39)	unclassified	probably benign
Z1176:4930447C04Rik	UTSW	12	72,963,500 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- GACGGTCATAGGGAACTCTG -3'
(R):5'- ACCGGTACACCATTGCTTTTG -3'

Sequencing Primer
(F):5'- TGCCTCAAGGACACTAGTCGAG -3'
(R):5'- GGTGCTTCCCAGTCTGCATTG -3'

Posted On

2018-04-02