Mutagenetix > Incidental Mutation

Incidental Mutation 'R7544:Tom1l2'

584100

Institutional Source

Beutler Lab

Gene Symbol

Tom1l2

Ensembl Gene

ENSMUSG00000000538

Gene Name

target of myb1-like 2 (chicken)

Synonyms

2900016I08Rik, A730055F12Rik, myb1-like protein 2

MMRRC Submission

045616-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

R7544 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

60117540-60243731 bp(-) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

TTGATGATG to TTGATG at 60171040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099744 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064019] [ENSMUST00000093046] [ENSMUST00000093048] [ENSMUST00000095254] [ENSMUST00000102682] [ENSMUST00000102683]

AlphaFold

Q5SRX1

Predicted Effect

probably benign
Transcript: ENSMUST00000064019

SMART Domains

Protein: ENSMUSP00000063414
Gene: ENSMUSG00000000538

Domain	Start	End	E-Value	Type
VHS	13	148	1.88e-68	SMART
low complexity region	187	202	N/A	INTRINSIC
Pfam:GAT	216	317	1.7e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093046

SMART Domains

Protein: ENSMUSP00000090734
Gene: ENSMUSG00000000538

Domain	Start	End	E-Value	Type
Pfam:VHS	7	73	1.3e-19	PFAM
low complexity region	137	152	N/A	INTRINSIC
Pfam:GAT	166	267	3e-36	PFAM
low complexity region	428	443	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093048

SMART Domains

Protein: ENSMUSP00000090736
Gene: ENSMUSG00000000538

Domain	Start	End	E-Value	Type
VHS	13	154	1.8e-47	SMART
Pfam:GAT	171	272	3e-36	PFAM
low complexity region	433	448	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095254

SMART Domains

Protein: ENSMUSP00000092884
Gene: ENSMUSG00000000538

Domain	Start	End	E-Value	Type
VHS	13	148	1.88e-68	SMART
low complexity region	187	202	N/A	INTRINSIC
Pfam:GAT	216	317	2e-36	PFAM
low complexity region	458	473	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102682

SMART Domains

Protein: ENSMUSP00000099743
Gene: ENSMUSG00000000538

Domain	Start	End	E-Value	Type
VHS	13	148	1.88e-68	SMART
low complexity region	187	202	N/A	INTRINSIC
Pfam:GAT	216	317	1.7e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102683

SMART Domains

Protein: ENSMUSP00000099744
Gene: ENSMUSG00000000538

Domain	Start	End	E-Value	Type
VHS	13	148	1.88e-68	SMART
low complexity region	187	202	N/A	INTRINSIC
Pfam:GAT	232	308	1e-26	PFAM
low complexity region	478	493	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a hypomorphic gene trap allele show malocclusion, kyphosis, hydrocephaly, patchy hair, splenomegaly, high B- and T-cell counts, thrombopenia, impaired humoral responses, a high frequency of infections and tumors, renal cysts, skin lesions, freezing behavior and sporadic bleeding. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	T	11: 72,089,765 (GRCm39)	V40I	probably damaging	Het
Abcb11	T	C	2: 69,095,830 (GRCm39)	K837E	probably benign	Het
Arhgef10	T	C	8: 15,029,854 (GRCm39)	S919P	probably benign	Het
Atxn2	T	C	5: 121,919,431 (GRCm39)	S530P	probably damaging	Het
Bicc1	T	C	10: 70,792,204 (GRCm39)	E268G	possibly damaging	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Capn7	T	G	14: 31,062,007 (GRCm39)	L40V	probably damaging	Het
Cd28	A	T	1: 60,808,859 (GRCm39)	N191I	probably damaging	Het
Cfap69	G	A	5: 5,645,936 (GRCm39)	T588M	not run	Het
Csmd1	T	C	8: 16,142,310 (GRCm39)	E1531G	probably damaging	Het
Cyp4a14	T	A	4: 115,348,283 (GRCm39)	D398V	probably damaging	Het
Dchs2	T	C	3: 83,262,434 (GRCm39)	S2901P	probably damaging	Het
Ddx11	G	A	17: 66,433,280 (GRCm39)	G37S	probably damaging	Het
Diaph1	A	T	18: 38,026,322 (GRCm39)		probably null	Het
Ech1	T	C	7: 28,525,392 (GRCm39)	V49A	probably benign	Het
Elovl4	T	C	9: 83,665,271 (GRCm39)	Y196C	probably damaging	Het
Ern2	G	A	7: 121,772,422 (GRCm39)	L679F	probably benign	Het
Fbf1	A	T	11: 116,056,659 (GRCm39)	M17K	probably benign	Het
Flvcr1	C	A	1: 190,758,143 (GRCm39)	G50W	probably damaging	Het
Fryl	A	G	5: 73,238,382 (GRCm39)	S1455P	probably benign	Het
Fzd9	A	G	5: 135,278,716 (GRCm39)	Y390H	probably damaging	Het
Gnai3	C	T	3: 108,025,702 (GRCm39)	V126M		Het
Gpc5	T	C	14: 115,665,585 (GRCm39)	F470L	probably damaging	Het
Grin1	T	C	2: 25,195,086 (GRCm39)	N332S	probably benign	Het
Gtf3c5	T	A	2: 28,469,554 (GRCm39)	I117F	possibly damaging	Het
Hydin	A	T	8: 111,316,157 (GRCm39)	S4350C	probably benign	Het
Kcnh4	G	T	11: 100,647,906 (GRCm39)	H152Q	probably benign	Het
Kcnk12	A	T	17: 88,053,493 (GRCm39)	S390T	possibly damaging	Het
Klra9	T	G	6: 130,168,183 (GRCm39)	T28P	probably benign	Het
Lef1	T	A	3: 130,988,414 (GRCm39)	I327N	probably damaging	Het
Lin54	A	G	5: 100,633,129 (GRCm39)	V185A	possibly damaging	Het
Lrrc37	T	C	11: 103,506,274 (GRCm39)	E1898G	probably benign	Het
Lrrc4b	A	T	7: 44,111,975 (GRCm39)	I616F	probably damaging	Het
Mad2l1bp	A	G	17: 46,463,770 (GRCm39)	Y85H	possibly damaging	Het
Mars1	T	C	10: 127,147,479 (GRCm39)	E7G	probably benign	Het
Mpnd	G	A	17: 56,318,666 (GRCm39)	R225H	probably benign	Het
Muc4	T	A	16: 32,555,016 (GRCm39)	M1K	probably null	Het
Nckap5	A	G	1: 125,953,948 (GRCm39)	L868S	possibly damaging	Het
Ndst1	G	A	18: 60,830,256 (GRCm39)	T618M	probably damaging	Het
Npas1	A	T	7: 16,194,899 (GRCm39)		probably null	Het
Nr2f2	A	T	7: 70,004,499 (GRCm39)	V384D	probably damaging	Het
Or10a3b	A	G	7: 108,444,528 (GRCm39)	S230P	probably benign	Het
Or1e19	A	G	11: 73,316,596 (GRCm39)	L71P	probably damaging	Het
Or4p8	T	A	2: 88,727,705 (GRCm39)	I79F	probably damaging	Het
Paip1	T	A	13: 119,582,337 (GRCm39)	F188I	probably damaging	Het
Pcdha4	A	T	18: 37,086,776 (GRCm39)	I320L	probably benign	Het
Peg10	TCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATC	T	6: 4,756,427 (GRCm39)		probably null	Het
Pgpep1	C	T	8: 71,103,168 (GRCm39)	G110R	unknown	Het
Pidd1	T	A	7: 141,020,252 (GRCm39)	H558L	possibly damaging	Het
Ppp1r1a	C	T	15: 103,439,776 (GRCm39)		probably null	Het
Pramel18	T	C	4: 101,768,599 (GRCm39)	S317P	possibly damaging	Het
Pramel51	T	A	12: 88,142,850 (GRCm39)	Y451F	probably benign	Het
Prkcg	A	G	7: 3,359,081 (GRCm39)	D96G	probably benign	Het
Prpf40b	A	G	15: 99,203,899 (GRCm39)	N154S	probably benign	Het
Psg17	A	G	7: 18,553,897 (GRCm39)	Y118H	probably benign	Het
Ptpn12	A	G	5: 21,214,509 (GRCm39)	I209T	probably damaging	Het
Reln	T	A	5: 22,181,276 (GRCm39)	K1835*	probably null	Het
Sf3b3	T	C	8: 111,564,915 (GRCm39)	M298V	probably benign	Het
Slc5a3	T	A	16: 91,874,682 (GRCm39)	N246K	probably benign	Het
Slmap	T	A	14: 26,151,001 (GRCm39)	E522D	probably damaging	Het
Slmap	C	T	14: 26,151,003 (GRCm39)	E522K	probably damaging	Het
Tcp10c	T	A	17: 13,581,260 (GRCm39)	L230Q	probably damaging	Het
Tdo2	A	G	3: 81,878,942 (GRCm39)		probably null	Het
Tet3	A	T	6: 83,381,623 (GRCm39)	W182R	probably damaging	Het
Tmem151a	T	A	19: 5,121,895 (GRCm39)	M35L	unknown	Het
Trak2	A	T	1: 58,960,227 (GRCm39)		probably null	Het
Trappc11	T	A	8: 47,975,449 (GRCm39)	E256D	possibly damaging	Het
Trim62	C	T	4: 128,796,346 (GRCm39)	T281I	probably benign	Het
Trip13	T	C	13: 74,081,021 (GRCm39)	E115G	probably benign	Het
Trp63	A	G	16: 25,620,837 (GRCm39)	T10A	probably benign	Het
Urah	A	T	7: 140,415,565 (GRCm39)	H11L	probably damaging	Het
Usp39	G	A	6: 72,319,891 (GRCm39)	T109I	probably damaging	Het
Wfikkn2	T	C	11: 94,128,738 (GRCm39)	T468A	probably benign	Het
Zfhx4	T	G	3: 5,477,875 (GRCm39)	S3497A	probably damaging	Het
Zfp85	C	T	13: 67,897,184 (GRCm39)	R296H	probably benign	Het

Other mutations in Tom1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00648:Tom1l2	APN	11	60,151,942 (GRCm39)	missense	possibly damaging	0.93
IGL01459:Tom1l2	APN	11	60,171,095 (GRCm39)	missense	probably damaging	1.00
IGL02990:Tom1l2	APN	11	60,121,062 (GRCm39)	missense	probably damaging	1.00
R0025:Tom1l2	UTSW	11	60,120,960 (GRCm39)	missense	probably damaging	0.96
R0025:Tom1l2	UTSW	11	60,120,960 (GRCm39)	missense	probably damaging	0.96
R4456:Tom1l2	UTSW	11	60,243,641 (GRCm39)	unclassified	probably benign
R4627:Tom1l2	UTSW	11	60,133,533 (GRCm39)	critical splice donor site	probably null
R4695:Tom1l2	UTSW	11	60,161,259 (GRCm39)	missense	probably damaging	0.98
R4713:Tom1l2	UTSW	11	60,161,259 (GRCm39)	missense	probably damaging	0.98
R4731:Tom1l2	UTSW	11	60,161,259 (GRCm39)	missense	probably damaging	0.98
R4788:Tom1l2	UTSW	11	60,139,844 (GRCm39)	missense	probably damaging	1.00
R4937:Tom1l2	UTSW	11	60,149,744 (GRCm39)	missense	probably damaging	1.00
R5320:Tom1l2	UTSW	11	60,133,648 (GRCm39)	nonsense	probably null
R5367:Tom1l2	UTSW	11	60,132,634 (GRCm39)	missense	probably benign	0.00
R6158:Tom1l2	UTSW	11	60,123,753 (GRCm39)	missense	probably damaging	1.00
R6944:Tom1l2	UTSW	11	60,139,817 (GRCm39)	missense	probably damaging	0.98
R7335:Tom1l2	UTSW	11	60,135,991 (GRCm39)	missense	probably benign	0.00
R7356:Tom1l2	UTSW	11	60,139,853 (GRCm39)	missense	probably damaging	0.99
R7376:Tom1l2	UTSW	11	60,152,026 (GRCm39)	missense	probably benign
R7760:Tom1l2	UTSW	11	60,165,791 (GRCm39)	missense	probably benign
R9200:Tom1l2	UTSW	11	60,120,942 (GRCm39)	missense	probably benign	0.37
R9291:Tom1l2	UTSW	11	60,153,556 (GRCm39)	missense	probably benign	0.09
R9394:Tom1l2	UTSW	11	60,132,715 (GRCm39)	missense	probably benign	0.00
R9514:Tom1l2	UTSW	11	60,153,486 (GRCm39)	missense	probably damaging	0.96
R9622:Tom1l2	UTSW	11	60,151,942 (GRCm39)	missense	possibly damaging	0.93
R9625:Tom1l2	UTSW	11	60,161,277 (GRCm39)	missense	probably damaging	1.00
Z1186:Tom1l2	UTSW	11	60,132,682 (GRCm39)	missense	probably benign	0.01
Z1187:Tom1l2	UTSW	11	60,132,682 (GRCm39)	missense	probably benign	0.01
Z1188:Tom1l2	UTSW	11	60,132,682 (GRCm39)	missense	probably benign	0.01
Z1189:Tom1l2	UTSW	11	60,132,682 (GRCm39)	missense	probably benign	0.01
Z1190:Tom1l2	UTSW	11	60,132,682 (GRCm39)	missense	probably benign	0.01
Z1191:Tom1l2	UTSW	11	60,132,682 (GRCm39)	missense	probably benign	0.01
Z1192:Tom1l2	UTSW	11	60,132,682 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTTCTCTAACTGAGGCACTGC -3'
(R):5'- CTTGTGAAAGCAGTAGCCCC -3'

Sequencing Primer
(F):5'- GACAGATGACTGCATTTCAGC -3'
(R):5'- CCCCAGTGGTGGTTCTAGTC -3'

Posted On

2019-10-17