Mutagenetix > Incidental Mutation

Incidental Mutation 'R1538:4930447C04Rik'

169729

Institutional Source

Beutler Lab

Gene Symbol

4930447C04Rik

Ensembl Gene

ENSMUSG00000021098

Gene Name

RIKEN cDNA 4930447C04 gene

Synonyms

Six6as, Six6os1

MMRRC Submission

039577-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

R1538 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72881109-72940774 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72881346 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 537 (A537V)

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: A536V

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035376
Gene: ENSMUSG00000021098
AA Change: A536V

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: A537V

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106115
Gene: ENSMUSG00000021098
AA Change: A537V

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.6%

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 138,065,401 (GRCm38)	R117L	probably benign	Het
4930579F01Rik	A	C	3: 138,183,756 (GRCm38)	D33E	probably damaging	Het
Acnat1	T	C	4: 49,447,835 (GRCm38)	K249E	possibly damaging	Het
Ankrd13a	T	C	5: 114,804,234 (GRCm38)	I526T	possibly damaging	Het
Aplp1	C	A	7: 30,436,027 (GRCm38)	E535D	probably benign	Het
Armc8	T	A	9: 99,505,290 (GRCm38)	H425L	probably damaging	Het
Arsi	G	A	18: 60,916,651 (GRCm38)	G202E	probably benign	Het
Asprv1	C	T	6: 86,628,636 (GRCm38)	Q155*	probably null	Het
Atl1	A	G	12: 69,926,188 (GRCm38)	Q94R	probably benign	Het
Atp2a2	A	G	5: 122,457,377 (GRCm38)	L970P	probably damaging	Het
Atp8a2	T	C	14: 59,860,270 (GRCm38)	K770E	probably benign	Het
Bod1l	A	G	5: 41,816,429 (GRCm38)	M2514T	probably benign	Het
Cacfd1	T	A	2: 27,018,939 (GRCm38)	D97E	probably benign	Het
Cacna1e	A	G	1: 154,561,758 (GRCm38)	L344P	probably damaging	Het
Cacna2d2	C	A	9: 107,517,416 (GRCm38)	R596S	probably damaging	Het
Catip	C	A	1: 74,364,652 (GRCm38)	S176*	probably null	Het
Cdcp1	G	A	9: 123,173,588 (GRCm38)	S806L	probably damaging	Het
Cdk6	A	T	5: 3,520,675 (GRCm38)	I289L	probably benign	Het
Cers3	C	T	7: 66,781,823 (GRCm38)	T182I	probably damaging	Het
Cfap46	T	A	7: 139,683,008 (GRCm38)	N43I	probably null	Het
Clec4n	A	T	6: 123,230,033 (GRCm38)	R5S	possibly damaging	Het
Cnr2	G	T	4: 135,916,701 (GRCm38)	S30I	probably benign	Het
Col18a1	C	T	10: 77,071,336 (GRCm38)	G870E	probably damaging	Het
Cpne6	T	C	14: 55,515,220 (GRCm38)	V289A	possibly damaging	Het
Crym	G	A	7: 120,197,715 (GRCm38)	L141F	probably benign	Het
Cxxc5	T	C	18: 35,858,569 (GRCm38)	S8P	unknown	Het
Dido1	A	C	2: 180,684,970 (GRCm38)	S453R	possibly damaging	Het
Dnah2	A	C	11: 69,477,202 (GRCm38)	S1770R	probably benign	Het
Dnah7a	A	G	1: 53,495,989 (GRCm38)	V2704A	possibly damaging	Het
Eml5	T	C	12: 98,794,276 (GRCm38)	N1738S	probably damaging	Het
Eri3	A	G	4: 117,582,639 (GRCm38)	T138A	possibly damaging	Het
Ext2	C	T	2: 93,707,287 (GRCm38)	E585K	probably damaging	Het
Fbxw19	T	A	9: 109,494,988 (GRCm38)	S38C	probably damaging	Het
Fcgbpl1	A	T	7: 28,155,492 (GRCm38)	I1848F	probably damaging	Het
Fmo6	G	A	1: 162,926,106 (GRCm38)	P156S	probably damaging	Het
Frem3	A	T	8: 80,613,135 (GRCm38)	I686F	probably benign	Het
Frem3	T	C	8: 80,612,710 (GRCm38)	L544P	probably damaging	Het
Gabra1	T	C	11: 42,140,350 (GRCm38)	Y251C	probably benign	Het
Gemin4	G	T	11: 76,211,161 (GRCm38)	Q925K	probably benign	Het
Gm18856	T	A	13: 13,964,689 (GRCm38)		probably benign	Het
Gnb1	A	T	4: 155,551,714 (GRCm38)	T164S	probably benign	Het
Gpx6	A	G	13: 21,313,652 (GRCm38)	D31G	possibly damaging	Het
Gzmd	A	C	14: 56,130,345 (GRCm38)	I157S	probably benign	Het
Il31ra	T	A	13: 112,547,466 (GRCm38)	N43I	possibly damaging	Het
Irak3	T	C	10: 120,165,130 (GRCm38)	T297A	probably benign	Het
Kank2	T	C	9: 21,774,631 (GRCm38)	D649G	probably damaging	Het
Kif3b	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	2: 153,317,462 (GRCm38)		probably benign	Het
Kirrel1	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Klhl18	A	G	9: 110,446,747 (GRCm38)	F111S	probably damaging	Het
Lratd2	A	G	15: 60,823,649 (GRCm38)	C83R	probably damaging	Het
Lrp5	A	G	19: 3,647,585 (GRCm38)	S319P	possibly damaging	Het
Mettl15	T	C	2: 109,131,665 (GRCm38)		probably null	Het
Mtarc1	T	C	1: 184,802,002 (GRCm38)	E223G	probably damaging	Het
Ncoa1	T	C	12: 4,270,748 (GRCm38)	Q1107R	possibly damaging	Het
Ncoa7	T	G	10: 30,694,211 (GRCm38)	M251L	probably damaging	Het
Nos2	A	T	11: 78,956,570 (GRCm38)	M1023L	probably benign	Het
Nup107	T	C	10: 117,790,494 (GRCm38)	K25E	probably damaging	Het
Or10q1b	A	T	19: 13,705,496 (GRCm38)	Y223F	probably damaging	Het
Or52s1b	A	G	7: 103,172,986 (GRCm38)	I217T	probably damaging	Het
Or5k14	T	A	16: 58,872,898 (GRCm38)	N84I	probably damaging	Het
Or5p58	T	A	7: 108,095,286 (GRCm38)	I95F	probably damaging	Het
Or6b6	A	T	7: 106,971,983 (GRCm38)	Y120*	probably null	Het
Or6c206	T	C	10: 129,261,213 (GRCm38)	I84T	probably damaging	Het
Parm1	G	A	5: 91,594,447 (GRCm38)	E225K	possibly damaging	Het
Pdzd2	A	C	15: 12,372,961 (GRCm38)	S2363A	probably damaging	Het
Piezo1	A	G	8: 122,491,403 (GRCm38)	L1199P	probably damaging	Het
Prpsap1	A	T	11: 116,479,708 (GRCm38)	M141K	probably benign	Het
Prss29	A	T	17: 25,320,283 (GRCm38)	M1L	possibly damaging	Het
Pter	T	A	2: 12,978,606 (GRCm38)	S141T	probably benign	Het
Ptpru	A	T	4: 131,774,351 (GRCm38)	D1181E	probably damaging	Het
Rab3ip	T	A	10: 116,939,254 (GRCm38)	Q66H	probably damaging	Het
Rgs12	A	T	5: 35,021,167 (GRCm38)	T779S	probably damaging	Het
Rgs22	A	G	15: 36,048,776 (GRCm38)	F786S	probably damaging	Het
Rnasel	A	T	1: 153,760,794 (GRCm38)	D640V	possibly damaging	Het
Rp1	T	C	1: 4,345,676 (GRCm38)	T1738A	probably damaging	Het
Sacs	T	C	14: 61,210,059 (GRCm38)	S3185P	probably damaging	Het
Scnn1a	T	A	6: 125,338,893 (GRCm38)	D321E	possibly damaging	Het
Sec31b	G	C	19: 44,518,586 (GRCm38)	L1014V	probably benign	Het
Serpinb10	A	G	1: 107,540,960 (GRCm38)	Y111C	probably damaging	Het
Shld2	C	G	14: 34,268,876 (GRCm38)	Q24H	probably damaging	Het
Siglecg	A	G	7: 43,417,889 (GRCm38)	K627E	possibly damaging	Het
Sigmar1	T	C	4: 41,740,845 (GRCm38)	I95V	probably benign	Het
Sirpb1b	T	A	3: 15,548,759 (GRCm38)	T88S	possibly damaging	Het
Spire2	T	G	8: 123,358,156 (GRCm38)	L245R	probably damaging	Het
Stard9	C	A	2: 120,696,711 (GRCm38)	P1150T	probably benign	Het
Stat6	C	A	10: 127,653,256 (GRCm38)	T380N	probably damaging	Het
Sult3a1	G	A	10: 33,870,170 (GRCm38)	G162E	probably benign	Het
Surf4	T	C	2: 26,933,698 (GRCm38)		probably null	Het
Tacc2	T	C	7: 130,625,419 (GRCm38)	M1278T	probably benign	Het
Tacr2	T	A	10: 62,261,327 (GRCm38)		probably null	Het
Tcaf1	A	T	6: 42,678,989 (GRCm38)	V351E	probably damaging	Het
Tmcc2	A	G	1: 132,380,980 (GRCm38)	S59P	probably damaging	Het
Tmem17	G	A	11: 22,517,266 (GRCm38)	S60N	possibly damaging	Het
Tmem63b	C	G	17: 45,678,978 (GRCm38)	R88P	possibly damaging	Het
Tmprss7	A	T	16: 45,679,390 (GRCm38)	I307N	probably benign	Het
Treml2	A	T	17: 48,302,758 (GRCm38)	T73S	possibly damaging	Het
Trrap	A	G	5: 144,837,202 (GRCm38)	H2876R	possibly damaging	Het
Tyw3	A	G	3: 154,596,869 (GRCm38)	I53T	probably damaging	Het
Ugp2	A	G	11: 21,333,791 (GRCm38)	I92T	possibly damaging	Het
Vmn2r66	A	T	7: 84,994,958 (GRCm38)	M748K	possibly damaging	Het
Vmn2r82	T	C	10: 79,356,744 (GRCm38)	S52P	possibly damaging	Het
Wdr37	A	T	13: 8,836,792 (GRCm38)	S320T	probably benign	Het
Zbtb16	A	T	9: 48,832,283 (GRCm38)	M243K	probably benign	Het
Zfr	C	T	15: 12,150,243 (GRCm38)	T432I	possibly damaging	Het

Other mutations in 4930447C04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:4930447C04Rik	APN	12	72,881,386 (GRCm38)	missense	possibly damaging	0.71
IGL01611:4930447C04Rik	APN	12	72,907,870 (GRCm38)	missense	possibly damaging	0.93
IGL02352:4930447C04Rik	APN	12	72,895,055 (GRCm38)	splice site	probably null
IGL02359:4930447C04Rik	APN	12	72,895,055 (GRCm38)	splice site	probably null
FR4304:4930447C04Rik	UTSW	12	72,881,287 (GRCm38)	small deletion	probably benign
R0650:4930447C04Rik	UTSW	12	72,910,056 (GRCm38)	missense	probably damaging	0.99
R0651:4930447C04Rik	UTSW	12	72,910,056 (GRCm38)	missense	probably damaging	0.99
R1271:4930447C04Rik	UTSW	12	72,892,883 (GRCm38)	missense	possibly damaging	0.71
R1321:4930447C04Rik	UTSW	12	72,898,544 (GRCm38)	splice site	probably benign
R1387:4930447C04Rik	UTSW	12	72,915,434 (GRCm38)	missense	probably benign	0.04
R1424:4930447C04Rik	UTSW	12	72,892,895 (GRCm38)	nonsense	probably null
R1440:4930447C04Rik	UTSW	12	72,881,421 (GRCm38)	missense	possibly damaging	0.85
R1694:4930447C04Rik	UTSW	12	72,885,218 (GRCm38)	splice site	probably null
R1888:4930447C04Rik	UTSW	12	72,913,256 (GRCm38)	missense	unknown
R1888:4930447C04Rik	UTSW	12	72,913,256 (GRCm38)	missense	unknown
R2151:4930447C04Rik	UTSW	12	72,907,951 (GRCm38)	splice site	probably null
R4930:4930447C04Rik	UTSW	12	72,906,234 (GRCm38)	missense	possibly damaging	0.71
R4967:4930447C04Rik	UTSW	12	72,909,728 (GRCm38)	nonsense	probably null
R5243:4930447C04Rik	UTSW	12	72,909,769 (GRCm38)	critical splice donor site	probably null
R6312:4930447C04Rik	UTSW	12	72,889,767 (GRCm38)	missense	possibly damaging	0.86
R6825:4930447C04Rik	UTSW	12	72,907,880 (GRCm38)	missense	probably benign	0.32
R7275:4930447C04Rik	UTSW	12	72,910,021 (GRCm38)	missense	possibly damaging	0.71
R8427:4930447C04Rik	UTSW	12	72,903,286 (GRCm38)	missense	possibly damaging	0.86
R8669:4930447C04Rik	UTSW	12	72,902,460 (GRCm38)	missense	probably benign	0.32
R8674:4930447C04Rik	UTSW	12	72,909,922 (GRCm38)	missense	probably benign	0.00
R9065:4930447C04Rik	UTSW	12	72,892,830 (GRCm38)	missense	possibly damaging	0.86
R9801:4930447C04Rik	UTSW	12	72,898,766 (GRCm38)	missense	probably benign	0.12
RF041:4930447C04Rik	UTSW	12	72,881,276 (GRCm38)	small deletion	probably benign
Z1088:4930447C04Rik	UTSW	12	72,939,395 (GRCm38)	unclassified	probably benign
Z1176:4930447C04Rik	UTSW	12	72,916,726 (GRCm38)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- accacgcccagcGATTTCAA -3'
(R):5'- GCCTTTCATAGAACCAAGGACAATGCC -3'

Sequencing Primer
(F):5'- GAGATTGTTTAATAGGGCCTACAAG -3'
(R):5'- CCAAGGACAATGCCTTATGTG -3'

Posted On

2014-04-13