Mutagenetix > Incidental Mutation

Incidental Mutation 'R9307:Tom1l1'

705291

Institutional Source

Beutler Lab

Gene Symbol

Tom1l1

Ensembl Gene

ENSMUSG00000020541

Gene Name

target of myb1-like 1 (chicken)

Synonyms

2310045L10Rik, Srcasm

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R9307 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

90536516-90579105 bp(-) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

TTGCTGCTGCTGCTGCTG to TTGCTGCTGCTGCTG at 90540648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020849] [ENSMUST00000020851] [ENSMUST00000107867] [ENSMUST00000107868] [ENSMUST00000107869]

AlphaFold

Q923U0

Predicted Effect

probably benign
Transcript: ENSMUST00000020849

SMART Domains

Protein: ENSMUSP00000020849
Gene: ENSMUSG00000020541

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: ENSMUST00000020851

SMART Domains

Protein: ENSMUSP00000020851
Gene: ENSMUSG00000020544

Domain	Start	End	E-Value	Type
low complexity region	42	54	N/A	INTRINSIC
Pfam:CtaG_Cox11	112	262	5.5e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107867

SMART Domains

Protein: ENSMUSP00000103499
Gene: ENSMUSG00000020541

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

SMART Domains

Protein: ENSMUSP00000103500
Gene: ENSMUSG00000020541

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

probably benign
Transcript: ENSMUST00000107869

SMART Domains

Protein: ENSMUSP00000103501
Gene: ENSMUSG00000020541

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	C	3: 137,771,183 (GRCm39)	D124A	probably benign	Het
Acd	T	C	8: 106,425,514 (GRCm39)	D273G	probably damaging	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam15	T	C	3: 89,254,790 (GRCm39)	D90G	possibly damaging	Het
Adam2	A	T	14: 66,287,921 (GRCm39)	C392S	probably damaging	Het
Adam23	T	A	1: 63,576,131 (GRCm39)	N304K	probably damaging	Het
Adam34l	A	C	8: 44,079,304 (GRCm39)	F307V	probably benign	Het
Aldh3b3	T	C	19: 4,013,882 (GRCm39)	F28L	probably damaging	Het
Bsn	A	G	9: 107,992,993 (GRCm39)	S920P	probably benign	Het
Btc	A	G	5: 91,550,515 (GRCm39)		probably null	Het
Chchd2	A	T	5: 129,916,054 (GRCm39)	V12E	probably benign	Het
Chia1	A	G	3: 106,035,991 (GRCm39)		probably benign	Het
Chil4	A	T	3: 106,111,382 (GRCm39)		probably null	Het
Clock	A	G	5: 76,364,671 (GRCm39)	F815L	unknown	Het
Cmtr2	C	T	8: 110,949,712 (GRCm39)	T674M	probably benign	Het
Cnbd1	A	C	4: 18,887,647 (GRCm39)	I289R	probably damaging	Het
Cog2	A	T	8: 125,253,837 (GRCm39)		probably null	Het
Col13a1	T	C	10: 61,703,248 (GRCm39)	I454V	unknown	Het
Cyct	T	A	2: 76,184,457 (GRCm39)	Y98F	probably benign	Het
Dcaf6	T	C	1: 165,227,236 (GRCm39)	E297G	possibly damaging	Het
Dgka	T	C	10: 128,567,046 (GRCm39)	H271R	probably damaging	Het
Dnah9	T	A	11: 65,976,300 (GRCm39)	I1250F	probably benign	Het
Dock4	T	C	12: 40,686,155 (GRCm39)	L130P	probably damaging	Het
Dpyd	G	A	3: 119,108,560 (GRCm39)	V868I	probably benign	Het
Dync1li1	T	A	9: 114,535,076 (GRCm39)	D113E	probably damaging	Het
Fat3	T	C	9: 15,932,719 (GRCm39)	K1405E	probably damaging	Het
Fbn2	A	G	18: 58,342,856 (GRCm39)	C8R	probably benign	Het
Frmd4a	A	G	2: 4,609,044 (GRCm39)	M971V	probably benign	Het
Glyatl3	C	T	17: 41,223,553 (GRCm39)		probably null	Het
Grip1	A	T	10: 119,821,454 (GRCm39)	H373L	probably benign	Het
Ins1	T	C	19: 52,253,258 (GRCm39)	L66P	possibly damaging	Het
Kif21b	A	T	1: 136,101,800 (GRCm39)	I1616L	probably benign	Het
Map7d1	A	G	4: 126,128,024 (GRCm39)	M637T	unknown	Het
Mc2r	A	T	18: 68,540,636 (GRCm39)	M219K	probably benign	Het
Mcpt1	A	G	14: 56,256,867 (GRCm39)	D135G	possibly damaging	Het
Mturn	T	C	6: 54,676,541 (GRCm39)		probably null	Het
Mutyh	T	A	4: 116,674,074 (GRCm39)		probably null	Het
Myh3	A	G	11: 66,984,397 (GRCm39)	D1078G	possibly damaging	Het
Or4d5	T	C	9: 40,012,451 (GRCm39)	I112V	probably benign	Het
Pcdha12	A	G	18: 37,153,874 (GRCm39)	K198E	probably damaging	Het
Pcf11	A	T	7: 92,306,534 (GRCm39)	N1211K	possibly damaging	Het
Piezo1	G	A	8: 123,213,832 (GRCm39)	P1711S		Het
Pkd1	T	A	17: 24,769,451 (GRCm39)	L72Q	possibly damaging	Het
Pramel20	C	A	4: 143,299,314 (GRCm39)	L326I	probably damaging	Het
Prss12	A	G	3: 123,299,049 (GRCm39)	D607G	probably benign	Het
R3hdml	T	C	2: 163,344,372 (GRCm39)	*254R	probably null	Het
Rasal3	TTGGACCTGAGTGGA	TTGGA	17: 32,612,502 (GRCm39)	782	probably null	Het
Relch	A	T	1: 105,615,077 (GRCm39)	Y272F	probably benign	Het
Rev3l	C	T	10: 39,693,149 (GRCm39)	P410S	probably benign	Het
Sec14l2	A	G	11: 4,068,665 (GRCm39)	V5A	probably benign	Het
Slc12a3	A	C	8: 95,061,625 (GRCm39)	I291L	probably benign	Het
Slc4a10	T	C	2: 62,083,662 (GRCm39)	F372L	probably damaging	Het
Spta1	T	C	1: 174,035,978 (GRCm39)	W1095R	probably damaging	Het
Synj1	T	C	16: 90,785,095 (GRCm39)	T254A	probably damaging	Het
Taar2	T	C	10: 23,817,237 (GRCm39)	F259S	probably damaging	Het
Tns2	C	A	15: 102,018,996 (GRCm39)	L396I	probably damaging	Het
Traf5	T	C	1: 191,747,033 (GRCm39)	D96G	probably damaging	Het
Trgv3	A	G	13: 19,427,441 (GRCm39)	E108G	probably damaging	Het
Trpv6	A	G	6: 41,602,378 (GRCm39)	V336A	probably benign	Het
Usp45	A	T	4: 21,824,998 (GRCm39)	L583F	probably damaging	Het
Utrn	T	C	10: 12,554,475 (GRCm39)	D1538G	probably benign	Het
Vmn1r209	T	A	13: 22,990,072 (GRCm39)	H206L	probably damaging	Het
Zfp51	T	A	17: 21,684,733 (GRCm39)	H449Q	probably benign	Het
Zfp653	G	A	9: 21,969,321 (GRCm39)	S315F	possibly damaging	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
R8244:Tom1l1	UTSW	11	90,548,647 (GRCm39)	missense	probably benign	0.13
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
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'- AGGCCTCAACTAATGGGAGTC -3'
(R):5'- GACTGGTTCCTACTCGGTTG -3'

Sequencing Primer
(F):5'- GTGTCATCCCTGAGTTTATTACATG -3'
(R):5'- GAGTGTGTACGGTTATTGGCGC -3'

Posted On

2022-03-25