Mutagenetix > Incidental Mutation

Incidental Mutation 'R3745:Tom1l1'

271176

Institutional Source

Beutler Lab

Gene Symbol

Tom1l1

Ensembl Gene

ENSMUSG00000020541

Gene Name

target of myb1-like 1 (chicken)

Synonyms

2310045L10Rik, Srcasm

MMRRC Submission

040731-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R3745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90643465-90688366 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90657741 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 259 (S259P)

Ref Sequence

ENSEMBL: ENSMUSP00000103501 (fasta)

Gene Model

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

AlphaFold

Q923U0

Predicted Effect

probably benign
Transcript: ENSMUST00000020849
AA Change: S335P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020849
Gene: ENSMUSG00000020541
AA Change: S335P

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: ENSMUST00000107867
AA Change: S88P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103499
Gene: ENSMUSG00000020541
AA Change: S88P

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
AA Change: S258P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103500
Gene: ENSMUSG00000020541
AA Change: S258P

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
AA Change: S259P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000103501
Gene: ENSMUSG00000020541
AA Change: S259P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147329

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Acot9	G	A	X: 155,271,945		probably benign	Het
Akap10	A	G	11: 61,915,305	V199A	probably benign	Het
Aox4	C	T	1: 58,245,870	H594Y	probably damaging	Het
Arhgap35	A	T	7: 16,563,722	Y473N	probably damaging	Het
Aspn	G	A	13: 49,566,560	E351K	probably damaging	Het
Astn1	G	T	1: 158,502,060	A162S	probably damaging	Het
Auts2	A	G	5: 131,476,587		probably benign	Het
Cog6	A	T	3: 52,992,819	M507K	probably benign	Het
Crct1	C	A	3: 93,014,707		probably benign	Het
Cyp2d11	A	C	15: 82,391,855	I175S	probably benign	Het
Dclk1	A	G	3: 55,247,442	N98D	possibly damaging	Het
Erich5	T	A	15: 34,470,732	C36S	probably damaging	Het
F5	A	G	1: 164,186,779	I540V	possibly damaging	Het
Fam20a	A	T	11: 109,677,790	S303R	probably benign	Het
Fam214a	T	C	9: 75,009,862	V581A	probably benign	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Gbp9	C	A	5: 105,105,858		probably benign	Het
Gm6408	G	T	5: 146,484,436	V292F	probably damaging	Het
Kmt2a	A	G	9: 44,831,340		probably benign	Het
Lrriq1	T	C	10: 103,170,856	D1136G	probably damaging	Het
Macrod2	C	A	2: 141,810,629	T204K	probably damaging	Het
Mlkl	A	G	8: 111,315,567		probably benign	Het
Msantd1	T	A	5: 34,923,467	V155E	possibly damaging	Het
Myo3b	A	G	2: 70,234,485		probably benign	Het
Nbn	T	A	4: 15,976,163	C375S	possibly damaging	Het
Nell2	A	C	15: 95,432,673	C231W	probably damaging	Het
Nipbl	A	G	15: 8,358,874	S421P	probably benign	Het
Npr3	A	T	15: 11,905,491	V50E	probably damaging	Het
Olfr1425	A	G	19: 12,074,380	L84P	probably damaging	Het
Pclo	T	C	5: 14,678,421		probably benign	Het
Pkn3	A	G	2: 30,090,341	K785R	probably damaging	Het
Ppef2	T	A	5: 92,239,151		probably benign	Het
Prdm10	T	C	9: 31,340,407	I357T	possibly damaging	Het
Prrc2c	G	A	1: 162,698,185	T284I	unknown	Het
Psma3	T	C	12: 70,978,748	S13P	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rpl6l	T	C	10: 111,126,365		noncoding transcript	Het
Tex11	A	G	X: 100,916,572	V522A	probably benign	Het
Thsd7b	A	G	1: 129,678,241	E573G	probably benign	Het
Trpm8	A	G	1: 88,348,327	E549G	probably benign	Het
Vmn1r66	C	T	7: 10,274,321	A262T	possibly damaging	Het
Zc3h13	T	A	14: 75,330,661	D1131E	probably benign	Het
Zfp445	A	C	9: 122,854,726	D289E	probably benign	Het

Other mutations in Tom1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Tom1l1	APN	11	90674740	missense	probably damaging	1.00
IGL01995:Tom1l1	APN	11	90649861	missense	probably damaging	0.96
R0057:Tom1l1	UTSW	11	90685149	splice site	probably benign
R1557:Tom1l1	UTSW	11	90656384	missense	possibly damaging	0.92
R1614:Tom1l1	UTSW	11	90683254	missense	probably damaging	1.00
R1616:Tom1l1	UTSW	11	90656351	missense	possibly damaging	0.92
R2165:Tom1l1	UTSW	11	90649895	splice site	probably benign
R2517:Tom1l1	UTSW	11	90671125	missense	possibly damaging	0.66
R4614:Tom1l1	UTSW	11	90671126	missense	probably damaging	1.00
R4694:Tom1l1	UTSW	11	90646849	missense	possibly damaging	0.86
R4755:Tom1l1	UTSW	11	90685116	missense	probably damaging	1.00
R5397:Tom1l1	UTSW	11	90661774	missense	probably benign	0.02
R6294:Tom1l1	UTSW	11	90661761	nonsense	probably null
R6733:Tom1l1	UTSW	11	90685060	critical splice donor site	probably null
R6911:Tom1l1	UTSW	11	90644161	splice site	probably null
R7103:Tom1l1	UTSW	11	90671081	splice site	probably null
R7489:Tom1l1	UTSW	11	90656359	missense	probably benign	0.00
R7696:Tom1l1	UTSW	11	90672915	missense	probably benign	0.02
R8244:Tom1l1	UTSW	11	90657821	missense	probably benign	0.13
R8787:Tom1l1	UTSW	11	90671105	missense	probably benign	0.00
R9205:Tom1l1	UTSW	11	90657818	missense	probably damaging	1.00
R9307:Tom1l1	UTSW	11	90649822	small deletion	probably benign
R9308:Tom1l1	UTSW	11	90649822	small deletion	probably benign
R9309:Tom1l1	UTSW	11	90649822	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TAACCCAACCATGTTGCAGGG -3'
(R):5'- TCCTGTGCTTAGGAGGATGTAC -3'

Sequencing Primer
(F):5'- CATGTTGCAGGGCAGCGATTC -3'
(R):5'- GGCTGAAGTTTGCCTTGAAAAATATG -3'

Posted On

2015-03-18