Mutagenetix > Incidental Mutation

Incidental Mutation 'RF041:4930447C04Rik'

604833

Institutional Source

Beutler Lab

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 #

RF041 (G1)

Quality Score

103.457

Status

Not validated

Chromosome

Chromosomal Location

72926967-72964742 bp(-) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

TGAGGA to TGA at 72928050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106115 (fasta)

Gene Model

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

AlphaFold

Q9CTN5

Predicted Effect

probably benign
Transcript: ENSMUST00000044000

SMART Domains

Protein: ENSMUSP00000035376
Gene: ENSMUSG00000021098

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

probably benign
Transcript: ENSMUST00000110489

SMART Domains

Protein: ENSMUSP00000106115
Gene: ENSMUSG00000021098

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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
5430401F13Rik	CCAGCAAAAACAGAAAGGAAAAGG	CCAGCAAAAACAGAAAGGAAAAGGAGGCCAGCAAAAACAGAAAGGAAAAGG	6: 131,529,836 (GRCm39)		probably benign	Het
5430401F13Rik	AGGTGGCCAG	AGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,857 (GRCm39)		probably benign	Het
5430401F13Rik	AAAGGTGGC	AAAGGTGGCAAGCAAAAACAGAAAGGAGAAGGTGGC	6: 131,529,855 (GRCm39)		probably benign	Het
Abcf1	CTCTTC	CTC	17: 36,274,093 (GRCm39)		probably benign	Het
Acap3	GGCTGC	GGCTGCGGCATCCTGTGCTGC	4: 155,989,557 (GRCm39)		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,475,257 (GRCm39)		probably benign	Het
Arid1b	CGG	CGGTGG	17: 5,045,870 (GRCm39)		probably benign	Het
AY761185	CACTGTGGG	C	8: 21,433,928 (GRCm39)		probably null	Het
Btnl1	C	T	17: 34,600,342 (GRCm39)	T246M	probably benign	Het
Cdc40	C	T	10: 40,719,119 (GRCm39)	D337N	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cul9	CCT	CCTACT	17: 46,811,780 (GRCm39)		probably null	Het
Defb22	GCTGGCCTTTGC	GCTGGCCTTTGCCGCAGACCTGGCCTTTGC	2: 152,327,743 (GRCm39)		probably benign	Het
Dmkn	GGGGTGGAAG	GGGGTGGAAGGGGTGGAAGTGGTGGAAGGGGTGGAAG	7: 30,466,598 (GRCm39)		probably benign	Het
Flywch1	CTCACCCACTCCTGGTGT	CTCACCCACTCCTGGTGTGGGGAGGCTACGTAATCACCCACTCCTGGTGT	17: 23,981,135 (GRCm39)		probably null	Het
Flywch1	GT	GTGGGGAGGCTACGTACTCACCCACTCCTGGTTT	17: 23,981,151 (GRCm39)		probably null	Het
Gabre	CTCCGG	CTCCGGATCCGG	X: 71,313,655 (GRCm39)		probably benign	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,489,122 (GRCm39)		probably benign	Het
Gykl1	G	A	18: 52,827,488 (GRCm39)	R232Q	probably benign	Het
Il2	GG	GGGCTTGAAGTGCG	3: 37,179,991 (GRCm39)		probably benign	Het
Iqcf4	CTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTACTTTTCATTTTCCTTTT	9: 106,447,812 (GRCm39)		probably null	Het
Kif12	GGC	GGCCTCCACCCGGCGTGC	4: 63,089,662 (GRCm39)		probably benign	Het
Kmt2c	TG	TGTTGCAG	5: 25,520,773 (GRCm39)		probably benign	Het
Lce1m	CTGCTGCTGCC	CTGCTGCTGCCCTTGCTGCTGCC	3: 92,925,448 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,432 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,435 (GRCm39)		probably benign	Het
Med12l	AGC	AGCTGC	3: 59,183,406 (GRCm39)		probably benign	Het
Med12l	GC	GCACC	3: 59,183,416 (GRCm39)		probably benign	Het
Nefh	CCTCACCTGGGG	CCTCACCTGGGGCCTTGGGCTCACCTGGGG	11: 4,891,039 (GRCm39)		probably benign	Het
Nf2	AAAAG	A	11: 4,779,936 (GRCm39)		probably null	Het
Ngfr	CAGG	C	11: 95,478,337 (GRCm39)		probably benign	Het
Nusap1	GAGA	GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA	2: 119,458,088 (GRCm39)		probably null	Het
Nusap1	GATACACGTTAGCAGTGAGGAGCAAGCTGA	GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA	2: 119,458,060 (GRCm39)		probably benign	Het
Nusap1	GTGAGGAGCAAGCTGA	GTGAGGAGCAAGCTGAAATACACGTTAGCAATGAGGAGCAAGCTGA	2: 119,458,074 (GRCm39)		probably benign	Het
Phc1	TG	TGCTGCGG	6: 122,300,559 (GRCm39)		probably benign	Het
Pnma8a	CAACATC	CAACATCTCATGATGCACCTGCTTAAACATC	7: 16,695,369 (GRCm39)		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Setd1a	GGTGGTGGT	GGTGGTGGTCGTGGTGGT	7: 127,384,504 (GRCm39)		probably benign	Het
Sfr1	ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCCCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC	ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC	19: 47,721,307 (GRCm39)		probably benign	Het
Slc39a4	TGTGGTC	TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC	15: 76,499,066 (GRCm39)		probably benign	Het
Smarca2	AGC	AGCCCCTGC	19: 26,608,421 (GRCm39)		probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Tcof1	AGATCCCCTTGGC	AGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGCGATCCCCTTGGC	18: 60,966,644 (GRCm39)		probably benign	Het
Tcof1	CCCCTTG	CCCCTTGACTGCTGAGATGGGCACTTTCCCAGAGATGCCCTTG	18: 60,966,648 (GRCm39)		probably benign	Het
Tfeb	GCA	GCATCA	17: 48,097,025 (GRCm39)		probably benign	Het
Tmem59	T	TGTTTGTTG	4: 107,047,729 (GRCm39)		probably benign	Het
Tob1	CACA	CACAACA	11: 94,105,277 (GRCm39)		probably benign	Het
Ubtf	CTTC	CTTCTTC	11: 102,197,771 (GRCm39)		probably benign	Het
Unc13b	AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG	AGCCAGAGCCAGAGCCAGGGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG	4: 43,177,338 (GRCm39)		probably benign	Het
Usp19	GTGTGTGTGTGTGTGTGTGTGTGTGT	GTGTGTGTGTGTGTGTGTGTGTGTGTGT	9: 108,371,187 (GRCm39)		unknown	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
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
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'- GAGATTGTTTAATAGGGCCTACAAG -3'
(R):5'- CAAGGACAATGCCTTATGTGTATG -3'

Sequencing Primer
(F):5'- TTAATAGGGCCTACAAGTCAAAATC -3'
(R):5'- ATGCCTTATGTGTATGAAGAATACG -3'

Posted On

2019-12-04