Mutagenetix > Incidental Mutations

Incidental Mutation 'R7335:Tom1l2'

569446

Institutional Source

Beutler Lab

Gene Symbol

Tom1l2

Ensembl Gene

ENSMUSG00000000538

Gene Name

target of myb1-like 2 (chicken)

Synonyms

A730055F12Rik, myb1-like protein 2, 2900016I08Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.269) question?

Stock #

R7335 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60226714-60352905 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 60245165 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 327 (E327D)

Ref Sequence

ENSEMBL: ENSMUSP00000099744 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000064019
AA Change: E327D

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000063414
Gene: ENSMUSG00000000538
AA Change: E327D

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
AA Change: E277D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000090734
Gene: ENSMUSG00000000538
AA Change: E277D

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
AA Change: E282D

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000090736
Gene: ENSMUSG00000000538
AA Change: E282D

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
AA Change: E327D

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000092884
Gene: ENSMUSG00000000538
AA Change: E327D

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
AA Change: E327D

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099743
Gene: ENSMUSG00000000538
AA Change: E327D

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
AA Change: E327D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099744
Gene: ENSMUSG00000000538
AA Change: E327D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000133420

SMART Domains

Protein: ENSMUSP00000117623
Gene: ENSMUSG00000000538

Domain	Start	End	E-Value	Type
low complexity region	170	185	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000121936
Gene: ENSMUSG00000000538
AA Change: E18D

Domain	Start	End	E-Value	Type
low complexity region	150	165	N/A	INTRINSIC

Meta Mutation Damage Score

0.0873

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (56/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,602,266	S35G	probably benign	Het
Adcy6	G	T	15: 98,603,876	Q286K	probably benign	Het
Agrn	A	G	4: 156,176,532	S676P	probably damaging	Het
Arntl2	A	G	6: 146,809,719	M74V	probably benign	Het
Arpp21	A	T	9: 112,176,251		probably null	Het
C1rb	A	T	6: 124,575,279	I319F	possibly damaging	Het
C2cd3	T	C	7: 100,422,603	V629A		Het
Cacna1i	T	G	15: 80,375,575	F1287C	probably damaging	Het
Catspere2	A	G	1: 178,098,508	I247V	probably benign	Het
Cd101	C	G	3: 101,018,729	A229P	probably benign	Het
Cdh23	T	C	10: 60,305,116	D3151G	probably damaging	Het
Cenpc1	C	A	5: 86,034,353	K557N	possibly damaging	Het
Col6a4	G	A	9: 106,076,892	T416M	possibly damaging	Het
Cyp2c67	A	T	19: 39,640,007	C164*	probably null	Het
Dopey2	A	G	16: 93,747,508	E179G	probably benign	Het
Duoxa2	A	T	2: 122,301,340	Y170F	possibly damaging	Het
Fras1	A	G	5: 96,736,970	K2569R	possibly damaging	Het
Fsip2	C	A	2: 82,983,118	H3260Q	probably benign	Het
Gm3402	T	C	5: 146,515,233	I121T	probably benign	Het
Herc3	T	A	6: 58,876,788	H606Q	possibly damaging	Het
Hmcn2	T	C	2: 31,392,157	V1927A	possibly damaging	Het
Hnf4g	A	G	3: 3,652,864	H347R	possibly damaging	Het
Hs3st3a1	A	G	11: 64,520,337	T234A	probably benign	Het
Hyal1	G	T	9: 107,579,160	V379L	probably benign	Het
Ighv1-19	A	G	12: 114,708,951		probably benign	Het
Iqcc	T	A	4: 129,616,708	Q338L	not run	Het
Kdm5b	T	C	1: 134,560,439	V34A	probably damaging	Het
Lgals4	T	C	7: 28,841,146	F225L	probably benign	Het
Lmtk3	C	T	7: 45,795,157	T1088I	unknown	Het
Magel2	A	T	7: 62,380,776	S1143C	unknown	Het
Mapk4	A	T	18: 73,937,267	L185Q	possibly damaging	Het
Ncam1	A	G	9: 49,506,911	S1030P		Het
Nynrin	A	T	14: 55,863,914	T347S	probably benign	Het
Pak7	T	C	2: 136,098,299	T532A	probably damaging	Het
Pcdhb15	A	G	18: 37,474,336	E207G	probably damaging	Het
Pde6h	T	C	6: 136,963,213	W66R	probably damaging	Het
Pmaip1	T	C	18: 66,458,814		probably null	Het
Prkd3	A	G	17: 78,954,566	F774S	probably damaging	Het
Prox1	T	A	1: 190,161,845	R134S	possibly damaging	Het
Ptpn22	T	A	3: 103,886,019	H495Q	probably damaging	Het
Ptprj	G	T	2: 90,440,782	Q1201K	probably benign	Het
Rp1l1	A	G	14: 64,031,998	S1678G	probably benign	Het
Sez6l	G	T	5: 112,576,812		probably null	Het
Sgcg	T	A	14: 61,240,367	Y91F	probably damaging	Het
Skint2	C	T	4: 112,624,218	L93F	probably damaging	Het
Slc22a22	A	T	15: 57,263,375	D99E	probably benign	Het
Slco3a1	A	G	7: 74,284,342	I694T	probably damaging	Het
Smurf2	A	T	11: 106,846,085	I305N	possibly damaging	Het
Soga1	T	C	2: 157,031,005	Q862R	possibly damaging	Het
Stac3	T	A	10: 127,504,900	V178D	probably benign	Het
Suclg2	T	A	6: 95,566,460	N330I	probably damaging	Het
Suclg2	G	A	6: 95,566,463	A329V	probably damaging	Het
Tas2r118	C	T	6: 23,969,750	C104Y	probably damaging	Het
Trit1	T	C	4: 123,016,779	M57T	possibly damaging	Het
Vav1	G	A	17: 57,296,720	S134N	probably benign	Het
Vmn2r82	T	C	10: 79,378,888	L235P	probably damaging	Het
Zfp735	T	A	11: 73,711,553	V441E	possibly damaging	Het

Other mutations in Tom1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00648:Tom1l2	APN	11	60261116	missense	possibly damaging	0.93
IGL01459:Tom1l2	APN	11	60280269	missense	probably damaging	1.00
IGL02990:Tom1l2	APN	11	60230236	missense	probably damaging	1.00
R0025:Tom1l2	UTSW	11	60230134	missense	probably damaging	0.96
R0025:Tom1l2	UTSW	11	60230134	missense	probably damaging	0.96
R4456:Tom1l2	UTSW	11	60352815	unclassified	probably benign
R4627:Tom1l2	UTSW	11	60242707	critical splice donor site	probably null
R4695:Tom1l2	UTSW	11	60270433	missense	probably damaging	0.98
R4713:Tom1l2	UTSW	11	60270433	missense	probably damaging	0.98
R4731:Tom1l2	UTSW	11	60270433	missense	probably damaging	0.98
R4788:Tom1l2	UTSW	11	60249018	missense	probably damaging	1.00
R4937:Tom1l2	UTSW	11	60258918	missense	probably damaging	1.00
R5320:Tom1l2	UTSW	11	60242822	nonsense	probably null
R5367:Tom1l2	UTSW	11	60241808	missense	probably benign	0.00
R6158:Tom1l2	UTSW	11	60232927	missense	probably damaging	1.00
R6944:Tom1l2	UTSW	11	60248991	missense	probably damaging	0.98
R7356:Tom1l2	UTSW	11	60249027	missense	probably damaging	0.99
R7376:Tom1l2	UTSW	11	60261200	missense	probably benign
R7544:Tom1l2	UTSW	11	60280214	small deletion	probably benign
R7760:Tom1l2	UTSW	11	60274965	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTCATGTGGACCACTGCAAAG -3'
(R):5'- TGAGTCCACAGTGAATCCTTAAG -3'

Sequencing Primer
(F):5'- ACTGCAAAGGCCTTCTCTGAC -3'
(R):5'- TCCACAGTGAATCCTTAAGGTAGG -3'

Posted On

2019-09-13