Mutagenetix > Incidental Mutation

Incidental Mutation 'R8244:Tom1l1'

640876

Institutional Source

Beutler Lab

Gene Symbol

Tom1l1

Ensembl Gene

ENSMUSG00000020541

Gene Name

target of myb1-like 1 (chicken)

Synonyms

2310045L10Rik, Srcasm

MMRRC Submission

067672-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R8244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90536516-90579105 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90548647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 308 (E308G)

Ref Sequence

ENSEMBL: ENSMUSP00000020849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020849] [ENSMUST00000107867] [ENSMUST00000107868] [ENSMUST00000107869]

AlphaFold

Q923U0

Predicted Effect

probably benign
Transcript: ENSMUST00000020849
AA Change: E308G

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000020849
Gene: ENSMUSG00000020541
AA Change: E308G

Domain	Start	End	E-Value	Type
VHS	15	150	7.37e-53	SMART
Pfam:GAT	212	288	5.8e-17	PFAM
low complexity region	340	349	N/A	INTRINSIC
low complexity region	409	416	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107867
AA Change: E61G

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103499
Gene: ENSMUSG00000020541
AA Change: E61G

Domain	Start	End	E-Value	Type
Pfam:GAT	1	50	5.4e-12	PFAM
low complexity region	93	102	N/A	INTRINSIC
low complexity region	162	169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107868
AA Change: E231G

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103500
Gene: ENSMUSG00000020541
AA Change: E231G

Domain	Start	End	E-Value	Type
Pfam:VHS	1	73	4.2e-10	PFAM
Pfam:GAT	119	220	5.5e-29	PFAM
low complexity region	263	272	N/A	INTRINSIC
low complexity region	332	339	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107869
AA Change: E232G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103501
Gene: ENSMUSG00000020541
AA Change: E232G

Domain	Start	End	E-Value	Type
VHS	15	152	7.23e-38	SMART
low complexity region	264	273	N/A	INTRINSIC
low complexity region	333	340	N/A	INTRINSIC

Meta Mutation Damage Score

0.0718

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	C	7: 27,271,004 (GRCm39)	I133T	probably damaging	Het
Ahnak	C	T	19: 8,993,037 (GRCm39)	P4774S	probably benign	Het
Alg5	A	G	3: 54,646,221 (GRCm39)	I29V	probably benign	Het
Ankar	A	G	1: 72,690,183 (GRCm39)	I1216T	probably benign	Het
Ap5z1	A	T	5: 142,459,735 (GRCm39)	T462S	possibly damaging	Het
Apc2	A	T	10: 80,151,166 (GRCm39)	R2073S	probably damaging	Het
Apob	A	T	12: 8,060,548 (GRCm39)	E3010V	probably damaging	Het
Arid3c	T	G	4: 41,729,997 (GRCm39)	E66A	possibly damaging	Het
Atf7	A	G	15: 102,437,301 (GRCm39)	S54P	unknown	Het
Cbx3	C	T	6: 51,452,350 (GRCm39)	T55I	probably benign	Het
Clptm1	A	T	7: 19,372,916 (GRCm39)	F205I	possibly damaging	Het
Cramp1	T	A	17: 25,190,384 (GRCm39)	I1117F	probably damaging	Het
Dgkq	A	G	5: 108,796,578 (GRCm39)	*935Q	probably null	Het
Dock2	A	T	11: 34,586,280 (GRCm39)	F511I	probably damaging	Het
Efr3a	G	A	15: 65,687,217 (GRCm39)	R15H	probably damaging	Het
Ehmt2	A	G	17: 35,124,238 (GRCm39)	D385G	probably damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Gfpt1	T	A	6: 87,040,613 (GRCm39)		probably benign	Het
Gm21680	T	C	5: 26,173,983 (GRCm39)	E207G	probably damaging	Het
Igsf23	A	T	7: 19,675,798 (GRCm39)	C141S	possibly damaging	Het
Ktn1	A	T	14: 47,912,280 (GRCm39)	E349V	probably null	Het
Lrp1b	T	C	2: 41,396,794 (GRCm39)	D424G		Het
Lrrc9	A	G	12: 72,546,384 (GRCm39)	I1190V	probably benign	Het
Lztfl1	T	A	9: 123,541,514 (GRCm39)	I102F	probably damaging	Het
Mapk11	G	T	15: 89,030,007 (GRCm39)	T203K	possibly damaging	Het
Mgam	T	A	6: 40,727,520 (GRCm39)	I1315N	probably damaging	Het
Nf1	T	C	11: 79,331,750 (GRCm39)	M695T	probably benign	Het
Pdcd4	A	G	19: 53,895,965 (GRCm39)	T8A	probably benign	Het
Pramel27	T	C	4: 143,579,854 (GRCm39)	Y480H	probably damaging	Het
Ptx4	A	G	17: 25,341,839 (GRCm39)	K105E	possibly damaging	Het
Pxn	C	T	5: 115,690,302 (GRCm39)	P381L	probably damaging	Het
Rtn4rl1	T	C	11: 75,156,276 (GRCm39)	L236P	probably damaging	Het
Sall3	G	A	18: 81,016,969 (GRCm39)	P320S	probably benign	Het
Sh2b2	G	T	5: 136,256,291 (GRCm39)	S247*	probably null	Het
Sim2	T	A	16: 93,910,222 (GRCm39)	V208E	probably damaging	Het
Slc44a4	T	C	17: 35,140,548 (GRCm39)	L247P	probably damaging	Het
Sox1	GGGCGGCGGCGGCGGCGG	GGGCGGCGGCGGCGG	8: 12,446,468 (GRCm39)		probably benign	Het
Tacc2	A	G	7: 130,330,406 (GRCm39)	D1937G	probably damaging	Het
Tmem131	T	C	1: 36,847,974 (GRCm39)	N1158S	probably benign	Het
Tns1	G	T	1: 73,976,410 (GRCm39)	A1146E	probably damaging	Het
Ttn	T	A	2: 76,659,051 (GRCm39)	K12262*	probably null	Het
Vps13b	G	T	15: 35,917,349 (GRCm39)	G3731V	probably damaging	Het
Wdr20	G	A	12: 110,760,076 (GRCm39)	E321K	probably benign	Het
Zfp516	G	T	18: 82,974,458 (GRCm39)	G219C	probably damaging	Het
Zfp979	A	T	4: 147,697,933 (GRCm39)	C259S	possibly damaging	Het
Zscan20	T	C	4: 128,479,759 (GRCm39)	T911A	probably benign	Het

Other mutations in Tom1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Tom1l1	APN	11	90,565,566 (GRCm39)	missense	probably damaging	1.00
IGL01995:Tom1l1	APN	11	90,540,687 (GRCm39)	missense	probably damaging	0.96
R0057:Tom1l1	UTSW	11	90,575,975 (GRCm39)	splice site	probably benign
R1557:Tom1l1	UTSW	11	90,547,210 (GRCm39)	missense	possibly damaging	0.92
R1614:Tom1l1	UTSW	11	90,574,080 (GRCm39)	missense	probably damaging	1.00
R1616:Tom1l1	UTSW	11	90,547,177 (GRCm39)	missense	possibly damaging	0.92
R2165:Tom1l1	UTSW	11	90,540,721 (GRCm39)	splice site	probably benign
R2517:Tom1l1	UTSW	11	90,561,951 (GRCm39)	missense	possibly damaging	0.66
R3745:Tom1l1	UTSW	11	90,548,567 (GRCm39)	missense	probably benign	0.01
R4614:Tom1l1	UTSW	11	90,561,952 (GRCm39)	missense	probably damaging	1.00
R4694:Tom1l1	UTSW	11	90,537,675 (GRCm39)	missense	possibly damaging	0.86
R4755:Tom1l1	UTSW	11	90,575,942 (GRCm39)	missense	probably damaging	1.00
R5397:Tom1l1	UTSW	11	90,552,600 (GRCm39)	missense	probably benign	0.02
R6294:Tom1l1	UTSW	11	90,552,587 (GRCm39)	nonsense	probably null
R6733:Tom1l1	UTSW	11	90,575,886 (GRCm39)	critical splice donor site	probably null
R6911:Tom1l1	UTSW	11	90,534,987 (GRCm39)	splice site	probably null
R7103:Tom1l1	UTSW	11	90,561,907 (GRCm39)	splice site	probably null
R7489:Tom1l1	UTSW	11	90,547,185 (GRCm39)	missense	probably benign	0.00
R7696:Tom1l1	UTSW	11	90,563,741 (GRCm39)	missense	probably benign	0.02
R8787:Tom1l1	UTSW	11	90,561,931 (GRCm39)	missense	probably benign	0.00
R9205:Tom1l1	UTSW	11	90,548,644 (GRCm39)	missense	probably damaging	1.00
R9307:Tom1l1	UTSW	11	90,540,648 (GRCm39)	small deletion	probably benign
R9308:Tom1l1	UTSW	11	90,540,648 (GRCm39)	small deletion	probably benign
R9309:Tom1l1	UTSW	11	90,540,648 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGACTGATTTGTGTCCTTCTCG -3'
(R):5'- TGGGTCCGAACTCTAAGCAAG -3'

Sequencing Primer
(F):5'- GTGTCCCTCTAAGGAAACCAAGG -3'
(R):5'- TCTAAGCAAGGACTCCTGTGC -3'

Posted On

2020-07-28