Mutagenetix > Incidental Mutation

Incidental Mutation 'RF041:Gm8369'

604847

Institutional Source

Beutler Lab

Gene Symbol

Gm8369

Ensembl Gene

ENSMUSG00000058470

Gene Name

predicted gene 8369

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

RF041 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

11469150-11489941 bp(+) (GRCm39)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

GTGTGT to GTGTGTATGTGT at 11489122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141067 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079855] [ENSMUST00000163078] [ENSMUST00000186423] [ENSMUST00000188633]

AlphaFold

E9PZI3

Predicted Effect

probably benign
Transcript: ENSMUST00000079855

SMART Domains

Protein: ENSMUSP00000132521
Gene: ENSMUSG00000058470

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
low complexity region	130	145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163078

SMART Domains

Protein: ENSMUSP00000124685
Gene: ENSMUSG00000024677

Domain	Start	End	E-Value	Type
Pfam:CD20	47	204	4.2e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186423

SMART Domains

Protein: ENSMUSP00000140897
Gene: ENSMUSG00000058470

Domain	Start	End	E-Value	Type
Pfam:CD20	1	62	5.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188633

SMART Domains

Protein: ENSMUSP00000141067
Gene: ENSMUSG00000058470

Domain	Start	End	E-Value	Type
Pfam:CD20	2	48	3.7e-9	PFAM
low complexity region	130	145	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	TGAGGA	TGA	12: 72,928,050 (GRCm39)		probably benign	Het
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
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 Gm8369

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1013:Gm8369	UTSW	19	11,489,147 (GRCm39)	frame shift	probably null
R4192:Gm8369	UTSW	19	11,479,596 (GRCm39)	missense	probably damaging	0.97
R5445:Gm8369	UTSW	19	11,482,170 (GRCm39)	missense	possibly damaging	0.55
R5809:Gm8369	UTSW	19	11,482,248 (GRCm39)	intron	probably benign
R6258:Gm8369	UTSW	19	11,488,973 (GRCm39)	missense	possibly damaging	0.93
R6791:Gm8369	UTSW	19	11,489,200 (GRCm39)	unclassified	probably benign
R9565:Gm8369	UTSW	19	11,489,015 (GRCm39)	missense	probably benign	0.00
R9683:Gm8369	UTSW	19	11,489,097 (GRCm39)	missense	probably damaging	0.97
R9778:Gm8369	UTSW	19	11,489,128 (GRCm39)	frame shift	probably null
RF004:Gm8369	UTSW	19	11,489,118 (GRCm39)	small insertion	probably benign
RF006:Gm8369	UTSW	19	11,489,128 (GRCm39)	small insertion	probably benign
RF008:Gm8369	UTSW	19	11,489,118 (GRCm39)	frame shift	probably null
RF016:Gm8369	UTSW	19	11,489,118 (GRCm39)	frame shift	probably null
RF017:Gm8369	UTSW	19	11,489,106 (GRCm39)	frame shift	probably null
RF018:Gm8369	UTSW	19	11,489,106 (GRCm39)	frame shift	probably null
RF025:Gm8369	UTSW	19	11,489,137 (GRCm39)	frame shift	probably null
RF028:Gm8369	UTSW	19	11,489,137 (GRCm39)	nonsense	probably null
RF032:Gm8369	UTSW	19	11,489,142 (GRCm39)	small insertion	probably benign
RF033:Gm8369	UTSW	19	11,489,142 (GRCm39)	small insertion	probably benign
RF035:Gm8369	UTSW	19	11,489,137 (GRCm39)	small insertion	probably benign
RF036:Gm8369	UTSW	19	11,489,142 (GRCm39)	small insertion	probably benign
RF037:Gm8369	UTSW	19	11,489,146 (GRCm39)	small insertion	probably benign
RF039:Gm8369	UTSW	19	11,489,146 (GRCm39)	small insertion	probably benign
RF039:Gm8369	UTSW	19	11,489,122 (GRCm39)	small insertion	probably benign
RF042:Gm8369	UTSW	19	11,489,142 (GRCm39)	small insertion	probably benign
RF042:Gm8369	UTSW	19	11,489,137 (GRCm39)	frame shift	probably null
RF054:Gm8369	UTSW	19	11,489,128 (GRCm39)	frame shift	probably null
RF055:Gm8369	UTSW	19	11,489,112 (GRCm39)	frame shift	probably null
Z1176:Gm8369	UTSW	19	11,488,988 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCACTGACTATACTGGGTGAC -3'
(R):5'- TGCCAATTCAATGCCCTTTG -3'

Sequencing Primer
(F):5'- CTGACTATACTGGGTGACTCAATGAC -3'
(R):5'- ATTCAATGCCCTTTGTACATTAAATG -3'

Posted On

2019-12-04