Mutagenetix > Incidental Mutation

Incidental Mutation 'R3415:Tm7sf2'

266788

Institutional Source

Beutler Lab

Gene Symbol

Tm7sf2

Ensembl Gene

ENSMUSG00000024799

Gene Name

transmembrane 7 superfamily member 2

Synonyms

ANG1, 3110041O18Rik

MMRRC Submission

040633-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3415 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6112851-6117880 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6113629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 301 (Y301H)

Ref Sequence

ENSEMBL: ENSMUSP00000025713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025711] [ENSMUST00000025713] [ENSMUST00000043074] [ENSMUST00000113543] [ENSMUST00000159084] [ENSMUST00000159832] [ENSMUST00000161718] [ENSMUST00000162575] [ENSMUST00000162726] [ENSMUST00000160028] [ENSMUST00000161090] [ENSMUST00000162810] [ENSMUST00000161528] [ENSMUST00000178310] [ENSMUST00000179142]

AlphaFold

Q71KT5

Predicted Effect

probably benign
Transcript: ENSMUST00000025711

SMART Domains

Protein: ENSMUSP00000025711
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
Pfam:COG2	56	191	2.6e-10	PFAM
Pfam:DUF2450	62	250	2.3e-14	PFAM
Pfam:Vps51	63	149	1.1e-26	PFAM
Pfam:Dor1	75	246	1.8e-19	PFAM
Pfam:Zw10	83	291	2.2e-8	PFAM
Pfam:Sec5	101	275	6.5e-24	PFAM
low complexity region	377	391	N/A	INTRINSIC
low complexity region	523	532	N/A	INTRINSIC
low complexity region	743	758	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000025713
AA Change: Y301H

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

SMART Domains

Protein: ENSMUSP00000025713
Gene: ENSMUSG00000024799
AA Change: Y301H

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	7	418	1.6e-141	PFAM
Pfam:DUF1295	250	409	9.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000043074

SMART Domains

Protein: ENSMUSP00000042835
Gene: ENSMUSG00000038274

Domain	Start	End	E-Value	Type
UBQ	1	70	2.55e-20	SMART
Pfam:Ribosomal_S30	75	133	9.4e-34	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113543
AA Change: Y301H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109171
Gene: ENSMUSG00000024799
AA Change: Y301H

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	7	373	9.9e-112	PFAM
Pfam:DUF1295	249	396	2.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159084

SMART Domains

Protein: ENSMUSP00000124868
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	7	300	6.4e-75	PFAM
Pfam:ERG4_ERG24	292	391	2.2e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159475

Predicted Effect

probably benign
Transcript: ENSMUST00000159832

SMART Domains

Protein: ENSMUSP00000123994
Gene: ENSMUSG00000024797

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
Pfam:COG2	56	191	2e-10	PFAM
Pfam:DUF2450	62	250	1.9e-14	PFAM
Pfam:Vps51	63	149	8.3e-27	PFAM
Pfam:Dor1	75	246	1.8e-19	PFAM
Pfam:Sec5	101	275	1.6e-19	PFAM
low complexity region	276	292	N/A	INTRINSIC
low complexity region	377	391	N/A	INTRINSIC
low complexity region	523	532	N/A	INTRINSIC
low complexity region	743	758	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161718
AA Change: Y101H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124283
Gene: ENSMUSG00000024799
AA Change: Y101H

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	1	197	5.7e-86	PFAM
Pfam:DUF1295	46	185	1e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162721

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160417

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162549

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161634

Predicted Effect

probably benign
Transcript: ENSMUST00000162575

SMART Domains

Protein: ENSMUSP00000125586
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:ERG4_ERG24	51	229	5.5e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162726

SMART Domains

Protein: ENSMUSP00000134031
Gene: ENSMUSG00000075227

Domain	Start	End	E-Value	Type
Pfam:zf-HIT	3	36	2e-15	PFAM
low complexity region	54	97	N/A	INTRINSIC
low complexity region	120	140	N/A	INTRINSIC
low complexity region	167	205	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160028

SMART Domains

Protein: ENSMUSP00000124847
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161090

SMART Domains

Protein: ENSMUSP00000125543
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	57	79	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162810

SMART Domains

Protein: ENSMUSP00000124825
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	9	124	6.9e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161528

SMART Domains

Protein: ENSMUSP00000123989
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	7	109	5.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178310

SMART Domains

Protein: ENSMUSP00000136803
Gene: ENSMUSG00000038274

Domain	Start	End	E-Value	Type
UBQ	1	70	2.55e-20	SMART
Pfam:Ribosomal_S30	75	133	9.4e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179142

SMART Domains

Protein: ENSMUSP00000136358
Gene: ENSMUSG00000038274

Domain	Start	End	E-Value	Type
UBQ	1	70	2.55e-20	SMART
Pfam:Ribosomal_S30	75	132	6.7e-34	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit normal plasma cholesterol levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc39	C	G	3: 33,868,646 (GRCm39)	L813F	probably benign	Het
Cdh13	A	T	8: 119,401,946 (GRCm39)	D116V	probably benign	Het
Cep170	G	T	1: 176,583,610 (GRCm39)	P923Q	probably damaging	Het
Chga	A	G	12: 102,529,043 (GRCm39)	E340G	probably benign	Het
Cmip	T	A	8: 118,076,116 (GRCm39)		probably null	Het
Cnga4	A	G	7: 105,056,325 (GRCm39)	Y309C	probably damaging	Het
Crocc	G	A	4: 140,773,758 (GRCm39)	T103I	possibly damaging	Het
Dph6	C	T	2: 114,348,768 (GRCm39)	V267I	probably benign	Het
Ero1a	T	C	14: 45,525,323 (GRCm39)	T401A	possibly damaging	Het
Exoc6b	C	G	6: 84,867,547 (GRCm39)	L288F	possibly damaging	Het
Ifi203	G	A	1: 173,756,326 (GRCm39)	R486*	probably null	Het
Igsf9b	G	A	9: 27,220,774 (GRCm39)	V47I	possibly damaging	Het
Klhl42	G	A	6: 147,009,378 (GRCm39)	V406M	probably damaging	Het
Lims2	A	T	18: 32,077,208 (GRCm39)	Y58F	probably damaging	Het
Lrp12	A	G	15: 39,741,678 (GRCm39)	F365L	probably damaging	Het
Lrrc37	A	T	11: 103,505,435 (GRCm39)	S2178T	possibly damaging	Het
Mark4	T	C	7: 19,185,650 (GRCm39)	D28G	probably benign	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Mmp1a	A	T	9: 7,464,869 (GRCm39)	K34N	possibly damaging	Het
Or4k2	T	A	14: 50,424,069 (GRCm39)	T202S	possibly damaging	Het
P2rx5	G	T	11: 73,051,486 (GRCm39)	V22L	possibly damaging	Het
Pnma8a	A	G	7: 16,694,879 (GRCm39)	R245G	possibly damaging	Het
Prpsap1	T	C	11: 116,369,410 (GRCm39)	S179G	probably benign	Het
Specc1	A	G	11: 62,009,245 (GRCm39)	T334A	probably benign	Het
Tas2r124	A	T	6: 132,732,601 (GRCm39)	R303S	probably benign	Het
Unc13c	G	T	9: 73,839,868 (GRCm39)	H328N	probably benign	Het
Zfp641	T	C	15: 98,188,421 (GRCm39)	D153G	probably benign	Het
Zp3	A	G	5: 136,014,514 (GRCm39)	T278A	probably benign	Het
Zscan2	T	A	7: 80,525,150 (GRCm39)	S290R	probably damaging	Het

Other mutations in Tm7sf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02292:Tm7sf2	APN	19	6,113,598 (GRCm39)	missense	probably damaging	1.00
IGL03299:Tm7sf2	APN	19	6,112,958 (GRCm39)	missense	probably benign	0.03
PIT4791001:Tm7sf2	UTSW	19	6,113,635 (GRCm39)	missense	probably benign	0.00
R0033:Tm7sf2	UTSW	19	6,116,452 (GRCm39)	splice site	probably benign
R0033:Tm7sf2	UTSW	19	6,116,452 (GRCm39)	splice site	probably benign
R1607:Tm7sf2	UTSW	19	6,113,049 (GRCm39)	splice site	probably null
R5392:Tm7sf2	UTSW	19	6,113,998 (GRCm39)	missense	probably damaging	1.00
R5835:Tm7sf2	UTSW	19	6,113,914 (GRCm39)	missense	probably damaging	1.00
R5886:Tm7sf2	UTSW	19	6,116,572 (GRCm39)	unclassified	probably benign
R6065:Tm7sf2	UTSW	19	6,113,416 (GRCm39)	missense	possibly damaging	0.65
R6300:Tm7sf2	UTSW	19	6,117,230 (GRCm39)	missense	probably damaging	1.00
R6915:Tm7sf2	UTSW	19	6,118,342 (GRCm39)	missense	probably damaging	0.99
R7037:Tm7sf2	UTSW	19	6,114,107 (GRCm39)	critical splice donor site	probably null
R7073:Tm7sf2	UTSW	19	6,116,527 (GRCm39)	critical splice donor site	probably null
R7328:Tm7sf2	UTSW	19	6,114,156 (GRCm39)	missense	possibly damaging	0.63
R7373:Tm7sf2	UTSW	19	6,116,676 (GRCm39)	missense	probably benign	0.39
R7612:Tm7sf2	UTSW	19	6,120,638 (GRCm39)	missense	probably benign	0.08
R7779:Tm7sf2	UTSW	19	6,112,947 (GRCm39)	missense	possibly damaging	0.95
R7903:Tm7sf2	UTSW	19	6,121,365 (GRCm39)	missense	probably damaging	1.00
R7904:Tm7sf2	UTSW	19	6,118,942 (GRCm39)	missense	probably damaging	0.96
R8082:Tm7sf2	UTSW	19	6,116,351 (GRCm39)	missense	probably damaging	1.00
R8155:Tm7sf2	UTSW	19	6,114,125 (GRCm39)	missense	probably damaging	1.00
R8428:Tm7sf2	UTSW	19	6,113,074 (GRCm39)	missense	probably benign	0.00
R8993:Tm7sf2	UTSW	19	6,113,956 (GRCm39)	missense	probably damaging	1.00
R9038:Tm7sf2	UTSW	19	6,117,172 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCGGGATGGTCTCAAGAC -3'
(R):5'- CATCTGCCTCCTTAAGGGTC -3'

Sequencing Primer
(F):5'- CCTAGAAATACAGCTAATGAAACGG -3'
(R):5'- ATCTGCCTCCTTAAGGGTCAGTAG -3'

Posted On

2015-02-18