Mutagenetix > Incidental Mutation

Incidental Mutation 'RF042:Gm8369'

604891

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 #

RF042 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

11469150-11489941 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

TGTG to TGTGAGTG at 11489137 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 null
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 null
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: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	AAAGGAAAAGGTGGCCAG	AAAGGAAAAGGTGGCCAGCAAAAACAGGAAGGAAAAGGTGGCCAG	6: 131,529,849 (GRCm39)		probably benign	Het
A030005L19Rik	GCTGCTG	GCTGCTGTGACTGCTG	1: 82,891,305 (GRCm39)		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,475,245 (GRCm39)		probably benign	Het
AI837181	CG	CGGTG	19: 5,475,265 (GRCm39)		probably benign	Het
Anapc2	GCGGCGGCGGCGAC	GC	2: 25,162,573 (GRCm39)		probably benign	Het
Cgnl1	AGCG	AGCGGCG	9: 71,631,997 (GRCm39)		probably benign	Het
Cntnap1	TTT	TTTTGTT	11: 101,071,131 (GRCm39)		probably benign	Het
Cul9	TTCTC	TTC	17: 46,851,541 (GRCm39)		probably null	Het
Dnmt1	GGGGCGGAGCACAGTTCCTACCTCGTT	GGGGCGGAGCACAGTTCCTACCTCGTTTTGTGGGCGGAGCACAGTTCCTACCTCGTT	9: 20,821,415 (GRCm39)		probably null	Het
Frem3	GATC	GATCATC	8: 81,341,867 (GRCm39)		probably benign	Het
Gab3	TCT	TCTACT	X: 74,043,611 (GRCm39)		probably benign	Het
Gab3	TTC	TTCGTC	X: 74,043,628 (GRCm39)		probably benign	Het
Gabre	GGCTCC	GGCTCCTGCTCC	X: 71,313,653 (GRCm39)		probably benign	Het
Gykl1	G	A	18: 52,827,488 (GRCm39)	R232Q	probably benign	Het
Igkv12-89	G	GCAACGCCAT	6: 68,812,270 (GRCm39)		probably benign	Het
Iqcf4	TCCTTTTCCTTTTCCTTTT	TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTTCCTTTT	9: 106,447,804 (GRCm39)		probably benign	Het
Kmt2e	TTT	TTTTCTT	5: 23,683,507 (GRCm39)		probably benign	Het
Krtap28-10	CCACAG	CCACAGACACAG	1: 83,019,846 (GRCm39)		probably benign	Het
Las1l	CTTCCT	CTTCCTTTTCCT	X: 94,984,226 (GRCm39)		probably benign	Het
Lca5l	GCCCTGGCCCTGGCCCC	GCCC	16: 95,960,497 (GRCm39)		probably null	Het
Lce1m	CACTGCTGCTGC	CACTGCTGCTGCAACTGCTGCTGC	3: 92,925,446 (GRCm39)		probably benign	Het
Lypd8	CA	CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAATA	11: 58,281,069 (GRCm39)		probably benign	Het
Mamld1	GCAACA	GCAACAACA	X: 70,162,418 (GRCm39)		probably benign	Het
Mamld1	A	AGCC	X: 70,162,459 (GRCm39)		probably benign	Het
Map1a	T	TTGCTCCACCTCCAGCTCCAGCTCCAGCTCC	2: 121,136,768 (GRCm39)		probably benign	Het
Med12l	CAG	CAGAAG	3: 59,183,402 (GRCm39)		probably benign	Het
Med12l	GC	GCATC	3: 59,183,416 (GRCm39)		probably benign	Het
Med12l	GCAACA	GCAACAACA	3: 59,183,377 (GRCm39)		probably benign	Het
Med12l	AGC	AGCGGC	3: 59,183,388 (GRCm39)		probably benign	Het
Morn4	GCAGTGAG	GCAGTGAGTCAGTCAGTGAG	19: 42,064,550 (GRCm39)		probably null	Het
Nusap1	GAGA	GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA	2: 119,458,088 (GRCm39)		probably null	Het
Opa3	GCGGGC	GCGGGCGGAGCTGCGGGCGGAGCTGCGGGCGGAGCTACGGGC	7: 18,989,594 (GRCm39)		probably benign	Het
Pdia4	CTCTTCCTCCT	C	6: 47,785,240 (GRCm39)		probably null	Het
Reep1	CGCCA	CGCCAGCCA	6: 71,684,950 (GRCm39)		probably null	Het
Sbp	AAGA	AAGACGCTGACAACAGAGA	17: 24,164,358 (GRCm39)		probably benign	Het
Sfswap	CTCGGCCCA	CTCGGCCCAGTCGGCCCA	5: 129,646,807 (GRCm39)		probably benign	Het
Slc39a4	TC	TCATCATGATCACCATGGTCACCATGATCACTGTGGCC	15: 76,499,071 (GRCm39)		probably benign	Het
Srpk2	ATCCT	AT	5: 23,730,573 (GRCm39)		probably benign	Het
Tfeb	GCA	GCACCA	17: 48,097,022 (GRCm39)		probably benign	Het
Tgoln1	T	TCACCTCCCGTGGGCTTGCCAGAAG	6: 72,593,057 (GRCm39)		probably benign	Het
Tob1	CACA	CACAACA	11: 94,105,277 (GRCm39)		probably benign	Het
Trappc9	A	AGCTGCTGCTGCTGCT	15: 72,673,132 (GRCm39)		probably benign	Het
Tsen2	GGA	GGATGA	6: 115,537,028 (GRCm39)		probably benign	Het
Zfhx3	GC	GCCACAGCAAC	8: 109,682,720 (GRCm39)		probably benign	Het
Zfhx3	CAGCAGCA	CAGCAGCAAAAGCAGCA	8: 109,682,730 (GRCm39)		probably benign	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
RF041:Gm8369	UTSW	19	11,489,122 (GRCm39)	small insertion	probably benign
RF042:Gm8369	UTSW	19	11,489,142 (GRCm39)	small insertion	probably benign
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'- CAAATCCTGCTGTGACAGTG -3'
(R):5'- GGAGACCTCACTTCACTAACATAG -3'

Sequencing Primer
(F):5'- CTGTGACAGTGATGGCATCTCC -3'
(R):5'- CTCACTTCACTAACATAGGTGTTTG -3'

Posted On

2019-12-04