Mutagenetix > Incidental Mutation

Incidental Mutation 'R4713:Tom1l2'

353386

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

041601-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.332) question?

Stock #

R4713 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

60226714-60352905 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 60270433 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 84 (R84P)

Ref Sequence

ENSEMBL: ENSMUSP00000099744 (fasta)

Gene Model

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

AlphaFold

Q5SRX1

Predicted Effect

probably damaging
Transcript: ENSMUST00000064019
AA Change: R84P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063414
Gene: ENSMUSG00000000538
AA Change: R84P

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

possibly damaging
Transcript: ENSMUST00000093048
AA Change: R84P

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090736
Gene: ENSMUSG00000000538
AA Change: R84P

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 damaging
Transcript: ENSMUST00000095254
AA Change: R84P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092884
Gene: ENSMUSG00000000538
AA Change: R84P

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 damaging
Transcript: ENSMUST00000102682
AA Change: R84P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099743
Gene: ENSMUSG00000000538
AA Change: R84P

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 damaging
Transcript: ENSMUST00000102683
AA Change: R84P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099744
Gene: ENSMUSG00000000538
AA Change: R84P

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

noncoding transcript
Transcript: ENSMUST00000142225

Meta Mutation Damage Score

0.8597

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 94.0%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	G	T	1: 25,547,532	T360K	probably damaging	Het
AW551984	T	C	9: 39,597,153	K356E	probably benign	Het
Bpifb2	T	A	2: 153,881,193	V123E	probably damaging	Het
Cacna1a	T	G	8: 84,549,514	F532V	probably damaging	Het
Cct8	C	A	16: 87,487,688	E204*	probably null	Het
Cd163	T	A	6: 124,317,618		probably null	Het
Cep152	C	A	2: 125,587,948	A685S	possibly damaging	Het
Chdh	A	G	14: 30,036,841	D581G	probably benign	Het
Cnpy3	A	C	17: 46,747,465	Y77*	probably null	Het
Col5a3	T	C	9: 20,793,574	E762G	unknown	Het
Creb3	A	G	4: 43,563,247	T115A	probably benign	Het
Dlat	G	T	9: 50,644,481	A412E	probably benign	Het
Dnah2	T	C	11: 69,476,688	N1789S	probably damaging	Het
Dzank1	C	T	2: 144,491,804	E370K	probably benign	Het
Eif3m	A	T	2: 105,006,839		probably null	Het
Gimap8	A	T	6: 48,658,986	M562L	probably benign	Het
Gm15448	G	T	7: 3,822,681	Y396*	probably null	Het
Gprc6a	T	A	10: 51,631,457		probably benign	Het
Gsr	T	G	8: 33,680,319		probably null	Het
Gstcd	A	G	3: 132,983,099	V630A	probably damaging	Het
Hip1r	T	C	5: 123,989,980	I116T	probably benign	Het
Hivep3	A	G	4: 120,131,803	E1817G	probably damaging	Het
Inpp5f	A	C	7: 128,663,725	T135P	probably damaging	Het
Ism2	A	G	12: 87,285,027		silent	Het
Itga11	A	G	9: 62,765,788	D784G	probably damaging	Het
Itpr2	A	G	6: 146,373,173	F837S	probably damaging	Het
Itpr2	T	C	6: 146,396,958	E10G	probably damaging	Het
Knl1	A	T	2: 119,069,137	K440*	probably null	Het
Lonp2	T	C	8: 86,713,315	S648P	probably damaging	Het
Lrba	T	C	3: 86,359,868	S1622P	probably benign	Het
Lrp2	G	T	2: 69,487,966	A2047D	probably damaging	Het
Mcm3	G	A	1: 20,803,577	T773I	probably benign	Het
Mfsd7a	T	C	5: 108,442,079	T486A	probably damaging	Het
Mki67	A	G	7: 135,695,469	V2612A	probably benign	Het
Mnx1	C	A	5: 29,478,131	G49W	probably damaging	Het
Muc5b	T	A	7: 141,849,079	Y673*	probably null	Het
Myo15	A	G	11: 60,479,930	H1172R	probably benign	Het
Myo1g	T	C	11: 6,516,080	K363R	probably null	Het
Ncoa4	T	A	14: 32,176,641	C473S	probably benign	Het
Nefh	T	C	11: 4,939,656	T988A	unknown	Het
Nwd2	T	A	5: 63,804,460	D462E	probably benign	Het
Olfr332	T	C	11: 58,490,087	T223A	probably benign	Het
Plec	T	C	15: 76,181,067	E1466G	unknown	Het
Prl3d2	G	T	13: 27,122,396	M35I	probably benign	Het
Reln	T	A	5: 22,152,463	I202F	probably benign	Het
Rhot1	T	A	11: 80,225,602	D78E	probably benign	Het
Rsph3b	T	C	17: 6,905,129		probably null	Het
Scn10a	C	T	9: 119,609,651	M1717I	probably damaging	Het
Sema6a	T	A	18: 47,249,296	H728L	possibly damaging	Het
Slc26a3	G	T	12: 31,457,080	A345S	possibly damaging	Het
Slc35d2	A	G	13: 64,099,283	V261A	possibly damaging	Het
Ssmem1	A	G	6: 30,519,514	D66G	probably damaging	Het
Sult2a8	A	T	7: 14,425,477	N72K	probably benign	Het
Tbx10	T	C	19: 3,996,921	L108P	probably damaging	Het
Tex14	T	C	11: 87,536,865	S48P	probably damaging	Het
Tmie	A	G	9: 110,867,528	L95P	probably damaging	Het
Trpm3	T	A	19: 22,889,435	D543E	possibly damaging	Het
Vipr2	A	C	12: 116,080,131	R49S	probably benign	Het
Vps8	A	T	16: 21,442,439	S110C	probably damaging	Het
Zfp791	T	A	8: 85,110,968	N89I	probably 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
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
R7335:Tom1l2	UTSW	11	60245165	missense	probably benign	0.00
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
R9200:Tom1l2	UTSW	11	60230116	missense	probably benign	0.37
R9291:Tom1l2	UTSW	11	60262730	missense	probably benign	0.09
R9394:Tom1l2	UTSW	11	60241889	missense	probably benign	0.00
R9514:Tom1l2	UTSW	11	60262660	missense	probably damaging	0.96
R9622:Tom1l2	UTSW	11	60261116	missense	possibly damaging	0.93
R9625:Tom1l2	UTSW	11	60270451	missense	probably damaging	1.00
Z1186:Tom1l2	UTSW	11	60241856	missense	probably benign	0.01
Z1187:Tom1l2	UTSW	11	60241856	missense	probably benign	0.01
Z1188:Tom1l2	UTSW	11	60241856	missense	probably benign	0.01
Z1189:Tom1l2	UTSW	11	60241856	missense	probably benign	0.01
Z1190:Tom1l2	UTSW	11	60241856	missense	probably benign	0.01
Z1191:Tom1l2	UTSW	11	60241856	missense	probably benign	0.01
Z1192:Tom1l2	UTSW	11	60241856	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGAGCGTGTATCACAGTCCC -3'
(R):5'- AGTCAACACAGGATTGTCATTCCC -3'

Sequencing Primer
(F):5'- GTGTATCACAGTCCCCATCTTACAG -3'
(R):5'- CACAGGATTGTCATTCCCAAGGAAG -3'

Posted On

2015-10-21