Mutagenetix > Incidental Mutation

Incidental Mutation 'R9205:Tom1l1'

698465

Institutional Source

Beutler Lab

Gene Symbol

Tom1l1

Ensembl Gene

ENSMUSG00000020541

Gene Name

target of myb1-like 1 (chicken)

Synonyms

2310045L10Rik, Srcasm

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R9205 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90536516-90579105 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 90548644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 309 (P309L)

Ref Sequence

ENSEMBL: ENSMUSP00000020849 (fasta)

Gene Model

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

AlphaFold

Q923U0

Predicted Effect

probably damaging
Transcript: ENSMUST00000020849
AA Change: P309L

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

SMART Domains

Protein: ENSMUSP00000020849
Gene: ENSMUSG00000020541
AA Change: P309L

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 damaging
Transcript: ENSMUST00000107867
AA Change: P62L

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

SMART Domains

Protein: ENSMUSP00000103499
Gene: ENSMUSG00000020541
AA Change: P62L

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 damaging
Transcript: ENSMUST00000107868
AA Change: P232L

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

SMART Domains

Protein: ENSMUSP00000103500
Gene: ENSMUSG00000020541
AA Change: P232L

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 damaging
Transcript: ENSMUST00000107869
AA Change: P233L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103501
Gene: ENSMUSG00000020541
AA Change: P233L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.3%

Validation Efficiency

95% (76/80)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	T	A	6: 140,587,954 (GRCm39)	H341Q	probably damaging	Het
Apob	G	A	12: 8,030,635 (GRCm39)	A125T	probably damaging	Het
Bace2	G	T	16: 97,158,059 (GRCm39)	A20S	unknown	Het
Bcar1	T	C	8: 112,442,341 (GRCm39)	Y238C	probably damaging	Het
Brinp3	A	T	1: 146,777,827 (GRCm39)	D758V	possibly damaging	Het
Btnl10	T	C	11: 58,811,345 (GRCm39)	S223P	probably damaging	Het
Cckar	C	T	5: 53,864,587 (GRCm39)		probably null	Het
Cdhr2	A	G	13: 54,861,801 (GRCm39)	N66S	probably benign	Het
Chd9	A	G	8: 91,757,270 (GRCm39)	M1890V	probably benign	Het
Col6a5	C	T	9: 105,755,837 (GRCm39)	G2196R	probably damaging	Het
Col9a1	T	G	1: 24,224,175 (GRCm39)	M119R	unknown	Het
Cryaa	A	G	17: 31,898,642 (GRCm39)	H123R	probably damaging	Het
Cux1	A	T	5: 136,398,989 (GRCm39)	D171E	probably damaging	Het
Dgkz	T	A	2: 91,764,144 (GRCm39)	T1067S	probably benign	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Dnah5	T	C	15: 28,448,480 (GRCm39)	M4181T	possibly damaging	Het
Dnajb14	A	G	3: 137,614,145 (GRCm39)	E352G	possibly damaging	Het
Dnmt3l	T	A	10: 77,892,586 (GRCm39)		probably null	Het
Dph6	T	C	2: 114,399,995 (GRCm39)	I117V	probably damaging	Het
Dsg1a	A	G	18: 20,473,228 (GRCm39)	D767G	probably damaging	Het
Edn3	C	T	2: 174,603,482 (GRCm39)	P77S	possibly damaging	Het
Fbln7	A	C	2: 128,737,168 (GRCm39)	S328R	probably null	Het
Fbn2	T	C	18: 58,192,428 (GRCm39)	R1518G	probably damaging	Het
Foxi2	A	T	7: 135,013,525 (GRCm39)	T252S	probably benign	Het
Foxred2	A	G	15: 77,836,206 (GRCm39)	S384P	probably damaging	Het
Gdpd1	G	A	11: 86,936,009 (GRCm39)	H174Y	probably benign	Het
Gm10542	A	C	18: 44,337,705 (GRCm39)	D61A	possibly damaging	Het
Gm10563	TTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	4: 155,720,307 (GRCm39)		probably benign	Het
H2-Ab1	A	G	17: 34,483,981 (GRCm39)	E114G	probably damaging	Het
Htt	C	T	5: 34,976,367 (GRCm39)	T723M	probably benign	Het
Igfn1	C	T	1: 135,903,695 (GRCm39)	V348I	probably damaging	Het
Itpr1	T	A	6: 108,466,810 (GRCm39)	L2173Q	probably damaging	Het
Lamp5	A	G	2: 135,901,521 (GRCm39)	Y115C	probably damaging	Het
Lrp1	T	A	10: 127,430,850 (GRCm39)	K400*	probably null	Het
Man2a2	C	T	7: 80,010,868 (GRCm39)	V708I	probably benign	Het
Matr3	T	C	18: 35,720,774 (GRCm39)	S746P	probably benign	Het
Me1	C	T	9: 86,480,847 (GRCm39)	V353M	probably benign	Het
Mideas	A	C	12: 84,199,661 (GRCm39)	F1020V	probably benign	Het
Nbeal1	T	A	1: 60,317,839 (GRCm39)	D1925E	probably damaging	Het
Oca2	T	A	7: 55,966,168 (GRCm39)	F387I	probably damaging	Het
Opn3	G	T	1: 175,490,655 (GRCm39)	N335K	probably benign	Het
Or5d36	T	A	2: 87,900,778 (GRCm39)	H316L	probably benign	Het
Or5k17	T	G	16: 58,746,485 (GRCm39)	I150L	probably benign	Het
Or5k17	G	T	16: 58,746,486 (GRCm39)	F149L	probably benign	Het
Or6d12	T	A	6: 116,493,315 (GRCm39)	N192K	probably benign	Het
Or6k2	T	C	1: 173,986,456 (GRCm39)	I39T	probably benign	Het
Or8b48	T	A	9: 38,493,373 (GRCm39)	S267T	probably benign	Het
Osm	A	G	11: 4,188,504 (GRCm39)	N44D	possibly damaging	Het
Otop2	T	C	11: 115,219,912 (GRCm39)	Y251H	probably damaging	Het
Pappa	T	C	4: 65,074,612 (GRCm39)	S389P	possibly damaging	Het
Polr1d	C	T	5: 147,038,068 (GRCm39)	A19V	probably damaging	Het
Ptchd4	G	A	17: 42,814,276 (GRCm39)	V726M	probably benign	Het
Pzp	T	A	6: 128,473,626 (GRCm39)	D731V	probably benign	Het
Rgl2	A	T	17: 34,155,002 (GRCm39)	I669F	probably damaging	Het
Rpl38	T	C	11: 114,563,114 (GRCm39)	*71R	probably null	Het
Rufy1	G	A	11: 50,289,301 (GRCm39)	R514W	probably damaging	Het
Ruvbl2	G	A	7: 45,083,741 (GRCm39)		probably benign	Het
Scn9a	T	G	2: 66,363,657 (GRCm39)	I874L	probably damaging	Het
Slc14a2	A	G	18: 78,238,951 (GRCm39)	S85P	probably benign	Het
Slc17a1	A	G	13: 24,062,794 (GRCm39)	I287V	probably benign	Het
Slc35f3	T	A	8: 127,115,928 (GRCm39)	I285N	probably damaging	Het
Slx4	A	G	16: 3,805,927 (GRCm39)	S542P	possibly damaging	Het
Sox30	A	T	11: 45,908,180 (GRCm39)	L782F	probably damaging	Het
Sspo	A	G	6: 48,432,806 (GRCm39)	N894S	probably benign	Het
Syne1	G	A	10: 5,152,013 (GRCm39)	Q5765*	probably null	Het
Taar7e	T	C	10: 23,913,972 (GRCm39)	I154T	probably benign	Het
Tars1	A	G	15: 11,397,265 (GRCm39)		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmem198b	A	T	10: 128,639,057 (GRCm39)	C29S	probably damaging	Het
Tnr	A	C	1: 159,722,617 (GRCm39)	M1021L	probably benign	Het
Traf4	A	G	11: 78,051,927 (GRCm39)	S186P	probably benign	Het
Trpm1	T	G	7: 63,890,319 (GRCm39)	V974G	possibly damaging	Het
Tsga10	T	A	1: 37,880,359 (GRCm39)		probably benign	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Vmn2r93	A	T	17: 18,524,281 (GRCm39)	I92F	probably damaging	Het
Zfp457	A	T	13: 67,441,965 (GRCm39)	D203E	probably benign	Het
Zfp518b	G	A	5: 38,831,501 (GRCm39)	S168F	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		probably benign	Het
Zfp777	G	A	6: 48,002,521 (GRCm39)	T523M	probably benign	Het

Other mutations in Tom1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Tom1l1	APN	11	90,565,566 (GRCm39)	missense	probably damaging	1.00
IGL01995:Tom1l1	APN	11	90,540,687 (GRCm39)	missense	probably damaging	0.96
R0057:Tom1l1	UTSW	11	90,575,975 (GRCm39)	splice site	probably benign
R1557:Tom1l1	UTSW	11	90,547,210 (GRCm39)	missense	possibly damaging	0.92
R1614:Tom1l1	UTSW	11	90,574,080 (GRCm39)	missense	probably damaging	1.00
R1616:Tom1l1	UTSW	11	90,547,177 (GRCm39)	missense	possibly damaging	0.92
R2165:Tom1l1	UTSW	11	90,540,721 (GRCm39)	splice site	probably benign
R2517:Tom1l1	UTSW	11	90,561,951 (GRCm39)	missense	possibly damaging	0.66
R3745:Tom1l1	UTSW	11	90,548,567 (GRCm39)	missense	probably benign	0.01
R4614:Tom1l1	UTSW	11	90,561,952 (GRCm39)	missense	probably damaging	1.00
R4694:Tom1l1	UTSW	11	90,537,675 (GRCm39)	missense	possibly damaging	0.86
R4755:Tom1l1	UTSW	11	90,575,942 (GRCm39)	missense	probably damaging	1.00
R5397:Tom1l1	UTSW	11	90,552,600 (GRCm39)	missense	probably benign	0.02
R6294:Tom1l1	UTSW	11	90,552,587 (GRCm39)	nonsense	probably null
R6733:Tom1l1	UTSW	11	90,575,886 (GRCm39)	critical splice donor site	probably null
R6911:Tom1l1	UTSW	11	90,534,987 (GRCm39)	splice site	probably null
R7103:Tom1l1	UTSW	11	90,561,907 (GRCm39)	splice site	probably null
R7489:Tom1l1	UTSW	11	90,547,185 (GRCm39)	missense	probably benign	0.00
R7696:Tom1l1	UTSW	11	90,563,741 (GRCm39)	missense	probably benign	0.02
R8244:Tom1l1	UTSW	11	90,548,647 (GRCm39)	missense	probably benign	0.13
R8787:Tom1l1	UTSW	11	90,561,931 (GRCm39)	missense	probably benign	0.00
R9307:Tom1l1	UTSW	11	90,540,648 (GRCm39)	small deletion	probably benign
R9308:Tom1l1	UTSW	11	90,540,648 (GRCm39)	small deletion	probably benign
R9309:Tom1l1	UTSW	11	90,540,648 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCTCCTGATGATAGTCCTCTG -3'
(R):5'- TCTAAGCAAGGACTCCTGTGC -3'

Sequencing Primer
(F):5'- CCTGATGATAGTCCTCTGATAGACTG -3'
(R):5'- CCTGTGCTTAGGAGGATGTAC -3'

Posted On

2022-02-07