Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01611:4930447C04Rik'

92115

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930447C04Rik

Ensembl Gene

ENSMUSG00000021098

Gene Name

RIKEN cDNA 4930447C04 gene

Synonyms

Six6os1, Six6as

Accession Numbers

Essential gene?

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

Stock #

IGL01611

Quality Score

Status

Chromosome

Chromosomal Location

72926967-72964742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72954644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 209 (L209S)

Ref Sequence

ENSEMBL: ENSMUSP00000106115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044000] [ENSMUST00000110489] [ENSMUST00000131033] [ENSMUST00000136075]

AlphaFold

Q9CTN5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044000
AA Change: L209S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035376
Gene: ENSMUSG00000021098
AA Change: L209S

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: L209S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106115
Gene: ENSMUSG00000021098
AA Change: L209S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131033

SMART Domains

Protein: ENSMUSP00000119777
Gene: ENSMUSG00000021098

Domain	Start	End	E-Value	Type
low complexity region	137	147	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132901

Predicted Effect

probably benign
Transcript: ENSMUST00000136075

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

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	T	19: 43,815,068 (GRCm39)	V1152F	probably damaging	Het
Adam9	C	T	8: 25,457,212 (GRCm39)	V639I	probably benign	Het
Cdc6	A	G	11: 98,805,989 (GRCm39)	I388V	probably benign	Het
Chrm5	C	T	2: 112,310,651 (GRCm39)	W155*	probably null	Het
Chrna9	A	G	5: 66,128,287 (GRCm39)	D161G	probably damaging	Het
Det1	A	G	7: 78,477,702 (GRCm39)	V541A	possibly damaging	Het
Efhc1	G	T	1: 21,060,911 (GRCm39)	*649L	probably null	Het
Ehbp1	C	T	11: 22,122,883 (GRCm39)	V146M	probably damaging	Het
Enam	A	C	5: 88,651,608 (GRCm39)	D1039A	probably damaging	Het
Fam20b	A	T	1: 156,530,035 (GRCm39)	V133E	probably benign	Het
Frem2	T	A	3: 53,563,130 (GRCm39)	Q459L	probably benign	Het
Gapdhs	C	T	7: 30,429,866 (GRCm39)		probably benign	Het
Gm3404	T	A	5: 146,465,157 (GRCm39)	V299D	possibly damaging	Het
Gorasp2	C	A	2: 70,519,604 (GRCm39)	H310N	possibly damaging	Het
Gpr157	T	C	4: 150,186,094 (GRCm39)	S219P	possibly damaging	Het
Gpt2	T	A	8: 86,246,167 (GRCm39)	C375*	probably null	Het
Gtf2h3	T	C	5: 124,733,748 (GRCm39)	S274P	probably damaging	Het
Hmg20b	C	T	10: 81,183,309 (GRCm39)	V83M	probably benign	Het
Igf2r	G	T	17: 12,944,302 (GRCm39)	Y400*	probably null	Het
Ipo9	A	T	1: 135,314,431 (GRCm39)	W942R	possibly damaging	Het
Iqch	T	C	9: 63,403,519 (GRCm39)		probably null	Het
Kcnh3	T	C	15: 99,127,383 (GRCm39)	L393P	probably benign	Het
Kcnk12	T	A	17: 88,104,495 (GRCm39)	I130L	probably benign	Het
Lcorl	T	C	5: 45,904,434 (GRCm39)	T205A	probably damaging	Het
Lpar6	G	T	14: 73,476,878 (GRCm39)	A280S	probably damaging	Het
Mgarp	A	T	3: 51,296,570 (GRCm39)	V152E	probably damaging	Het
Pard3b	A	G	1: 62,677,021 (GRCm39)	D1184G	probably damaging	Het
Pcnt	A	G	10: 76,272,258 (GRCm39)		probably null	Het
Pde6b	A	G	5: 108,551,262 (GRCm39)	N182S	possibly damaging	Het
Pom121	T	C	5: 135,412,526 (GRCm39)	K516E	unknown	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Ptpn18	T	C	1: 34,498,898 (GRCm39)		probably benign	Het
Rapgef5	C	T	12: 117,717,154 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,606,202 (GRCm39)	L4460S	possibly damaging	Het
Sema6b	T	C	17: 56,436,969 (GRCm39)		probably null	Het
Serpinb6d	T	A	13: 33,850,375 (GRCm39)	C67*	probably null	Het
Sorbs2	T	G	8: 46,248,381 (GRCm39)	V510G	probably null	Het
Spic	T	A	10: 88,511,864 (GRCm39)	I131F	possibly damaging	Het
Spire2	T	C	8: 124,086,137 (GRCm39)	S290P	probably damaging	Het
Tas2r117	C	T	6: 132,780,447 (GRCm39)	S195F	probably benign	Het
Tas2r117	T	C	6: 132,780,450 (GRCm39)	V196A	probably damaging	Het
Tff1	C	T	17: 31,381,703 (GRCm39)	G58D	probably damaging	Het
Tmprss11g	T	C	5: 86,638,640 (GRCm39)	T283A	probably benign	Het
Toporsl	T	A	4: 52,610,794 (GRCm39)	L229H	probably damaging	Het
Vmn2r80	G	A	10: 79,007,488 (GRCm39)	G488D	probably damaging	Het
Vps54	T	A	11: 21,261,082 (GRCm39)	V583D	probably damaging	Het
Vwa1	T	C	4: 155,855,255 (GRCm39)	E286G	possibly damaging	Het
Vwde	A	T	6: 13,219,977 (GRCm39)	I58N	probably damaging	Het
Zbtb11	T	C	16: 55,800,973 (GRCm39)	V109A	probably damaging	Het
Zfp319	C	T	8: 96,055,540 (GRCm39)	R221Q	probably benign	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
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
R6312:4930447C04Rik	UTSW	12	72,936,541 (GRCm39)	missense	possibly damaging	0.86
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

Posted On

2013-12-09