Mutagenetix > Incidental Mutation

Incidental Mutation 'R4937:Tom1l2'

380503

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.301) question?

Stock #

R4937 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60226714-60352905 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60258918 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 239 (S239P)

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: S239P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063414
Gene: ENSMUSG00000000538
AA Change: S239P

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: ENSMUST00000093046
AA Change: S189P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090734
Gene: ENSMUSG00000000538
AA Change: S189P

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 damaging
Transcript: ENSMUST00000093048
AA Change: S194P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090736
Gene: ENSMUSG00000000538
AA Change: S194P

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: S239P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092884
Gene: ENSMUSG00000000538
AA Change: S239P

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: S239P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099743
Gene: ENSMUSG00000000538
AA Change: S239P

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: S239P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099744
Gene: ENSMUSG00000000538
AA Change: S239P

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.3%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,736,201	F597S	probably benign	Het
4933406M09Rik	T	A	1: 134,389,976	M162K	probably benign	Het
Aasdh	C	A	5: 76,888,654	E347*	probably null	Het
Abca16	G	T	7: 120,527,086	C1155F	probably damaging	Het
Adam26a	T	C	8: 43,568,881	D524G	probably damaging	Het
Adamts20	G	C	15: 94,379,775	H269D	probably benign	Het
Akap9	T	A	5: 4,050,145		probably null	Het
Akt3	T	C	1: 177,050,127	I358M	possibly damaging	Het
Aldh9a1	G	T	1: 167,361,807	A375S	probably damaging	Het
Alg2	A	G	4: 47,473,974	S105P	probably benign	Het
Amph	A	G	13: 19,104,345	T335A	probably damaging	Het
Ank2	C	T	3: 126,962,401	V1056M	probably damaging	Het
Apoh	A	G	11: 108,407,378	D168G	probably benign	Het
Arfgef3	C	T	10: 18,589,706	A2130T	probably damaging	Het
Arhgap30	A	G	1: 171,403,329	D218G	probably benign	Het
Ascc3	C	T	10: 50,823,798	P1906S	probably damaging	Het
Atp11b	T	G	3: 35,807,008		probably null	Het
B4galnt2	A	G	11: 95,868,429	V343A	probably damaging	Het
Barhl1	T	C	2: 28,909,773	Y280C	probably damaging	Het
Bcar1	A	T	8: 111,721,037	Y103N	probably damaging	Het
Bid	A	G	6: 120,895,746	I150T	probably benign	Het
Ccdc171	T	C	4: 83,549,639	S74P	probably damaging	Het
Ccni	A	T	5: 93,188,254		probably null	Het
Cct8l1	A	G	5: 25,516,893	E202G	probably benign	Het
Cd200r3	A	G	16: 44,954,259	K212E	probably benign	Het
Cdh19	A	G	1: 110,889,964	S683P	probably damaging	Het
Ces2b	A	T	8: 104,832,781	H93L	probably benign	Het
Clec4a1	G	A	6: 122,930,695	C114Y	probably damaging	Het
Dcc	G	T	18: 71,542,249	S636*	probably null	Het
Dcdc2c	T	C	12: 28,530,473	D187G	possibly damaging	Het
Dgkb	G	T	12: 38,114,658	E150*	probably null	Het
Dhx30	A	G	9: 110,085,961	L884P	probably damaging	Het
Dmwd	T	G	7: 19,081,303		probably null	Het
Dnah17	T	A	11: 118,042,154	N3593Y	probably damaging	Het
Dnm2	G	A	9: 21,481,337	S447N	probably benign	Het
Elk4	G	A	1: 132,017,681	G99D	probably damaging	Het
Entpd1	A	T	19: 40,739,521		probably benign	Het
Fam114a1	T	A	5: 64,979,727	D4E	probably damaging	Het
Fam160b1	T	C	19: 57,378,637	V204A	probably benign	Het
Fam166b	T	A	4: 43,427,514	Q270L	possibly damaging	Het
Fbln2	A	G	6: 91,264,699	D754G	probably damaging	Het
Foxred2	T	C	15: 77,955,835	N85S	probably damaging	Het
Fut9	A	G	4: 25,799,591		probably benign	Het
Gm13023	T	C	4: 143,793,837	V53A	possibly damaging	Het
Gm13762	T	A	2: 88,973,490	I134F	probably damaging	Het
Gm14124	C	T	2: 150,268,760	H457Y	unknown	Het
Gm1818	G	A	12: 48,559,824		noncoding transcript	Het
Gm4894	C	A	9: 49,278,700	Q92K	unknown	Het
Gpx2	T	C	12: 76,792,800	I141M	probably benign	Het
Gusb	T	C	5: 129,995,485	T476A	probably damaging	Het
Hmmr	G	A	11: 40,721,840	T180I	possibly damaging	Het
Itgbl1	T	C	14: 123,973,368	Y493H	probably benign	Het
Klhdc9	G	T	1: 171,360,383	C93*	probably null	Het
Lpar3	A	G	3: 146,284,751	K275E	probably damaging	Het
Lrp1b	A	G	2: 40,802,885		probably null	Het
Lrrc63	C	T	14: 75,084,949	G572S	probably damaging	Het
Mapk11	A	T	15: 89,146,482	D98E	probably benign	Het
Net1	G	A	13: 3,884,905	R374W	probably damaging	Het
Nlrp4g	T	A	9: 124,354,005		noncoding transcript	Het
Nrap	T	A	19: 56,347,220	Y923F	probably damaging	Het
Olfr53	T	A	7: 140,652,621	M214K	probably benign	Het
Olfr811	A	T	10: 129,802,063	V154E	probably benign	Het
Plxnc1	A	G	10: 94,841,473	V964A	probably damaging	Het
Pmfbp1	A	G	8: 109,535,866	I731V	probably benign	Het
Polq	T	A	16: 37,027,912	S294T	probably benign	Het
Pomgnt2	T	C	9: 121,982,554	D387G	probably benign	Het
Prmt2	G	A	10: 76,221,008	T227I	probably damaging	Het
Psmd1	T	A	1: 86,083,225	F341I	probably damaging	Het
Ptpn23	T	C	9: 110,392,738	M127V	probably benign	Het
Ptprc	A	G	1: 138,089,500	F483L	probably damaging	Het
Rab35	A	C	5: 115,640,088	I38L	probably damaging	Het
Rapgef6	A	G	11: 54,657,317	T486A	probably damaging	Het
Rgl3	A	T	9: 21,987,708	C68*	probably null	Het
Rilpl1	T	C	5: 124,515,531	E189G	possibly damaging	Het
Rnf217	T	C	10: 31,517,524	I354V	probably benign	Het
Rspo3	T	C	10: 29,506,528	D50G	probably damaging	Het
Sbno1	A	G	5: 124,374,609	S1366P	possibly damaging	Het
Sema3c	A	G	5: 17,694,686	D392G	probably benign	Het
Serpinb9e	A	T	13: 33,252,952	Y85F	probably benign	Het
Shprh	C	T	10: 11,157,119	T283I	probably benign	Het
Sipa1l1	T	C	12: 82,341,329	S110P	probably benign	Het
Slc16a12	T	A	19: 34,675,243	I168F	probably damaging	Het
Slc23a3	A	G	1: 75,132,624	S221P	probably damaging	Het
Slc35b3	A	T	13: 38,932,911	I366K	possibly damaging	Het
Slc44a5	T	C	3: 154,243,615		probably null	Het
Slc5a12	A	T	2: 110,620,408	D316V	probably damaging	Het
Ssr3	A	G	3: 65,392,453	S29P	probably damaging	Het
Taf2	G	A	15: 55,027,223	Q1055*	probably null	Het
Them6	A	T	15: 74,721,518	D75V	probably damaging	Het
Tmem159	T	C	7: 120,116,312	S120P	probably damaging	Het
Tspear	A	G	10: 77,875,043	T500A	probably damaging	Het
Tubgcp6	G	A	15: 89,101,549	A1487V	probably damaging	Het
Uba7	G	A	9: 107,978,991	V522I	possibly damaging	Het
Virma	C	A	4: 11,521,147	C901*	probably null	Het
Vmn1r172	A	T	7: 23,659,887	I66F	possibly damaging	Het
Vmn2r82	A	T	10: 79,379,176	Y331F	probably benign	Het
Wdr55	G	A	18: 36,762,398	V143I	probably benign	Het
Zbtb49	A	T	5: 38,213,963	D191E	possibly damaging	Het
Zfhx4	A	G	3: 5,242,011	H99R	probably damaging	Het
Zfp560	C	T	9: 20,347,967	C533Y	probably damaging	Het
Zfp646	C	T	7: 127,879,182	A177V	probably benign	Het
Zfp653	C	T	9: 22,055,778	E604K	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
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
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'- ACAGAGAGTGCTACTGGCTTCTG -3'
(R):5'- CCTGTGGTTCAGACTGATCTAG -3'

Sequencing Primer
(F):5'- ATGTGAACCAGCATGGCCTTG -3'
(R):5'- ATCTAGGTGATCTCATAGTGGGCAG -3'

Posted On

2016-04-15