Mutagenetix > Incidental Mutation

Incidental Mutation 'R6915:Tm7sf2'

539316

Institutional Source

Beutler Lab

Gene Symbol

Tm7sf2

Ensembl Gene

ENSMUSG00000024799

Gene Name

transmembrane 7 superfamily member 2

Synonyms

ANG1, 3110041O18Rik

MMRRC Submission

045036-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6112851-6117880 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 6118342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 718 (R718S)

Ref Sequence

ENSEMBL: ENSMUSP00000123994 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025711] [ENSMUST00000025713] [ENSMUST00000113543] [ENSMUST00000159084] [ENSMUST00000159832] [ENSMUST00000160028] [ENSMUST00000160233] [ENSMUST00000161090] [ENSMUST00000161528] [ENSMUST00000161718] [ENSMUST00000162575] [ENSMUST00000162810]

AlphaFold

Q71KT5

Predicted Effect

probably damaging
Transcript: ENSMUST00000025711
AA Change: R718S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025711
Gene: ENSMUSG00000024799
AA Change: R718S

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 benign
Transcript: ENSMUST00000025713

SMART Domains

Protein: ENSMUSP00000025713
Gene: ENSMUSG00000024799

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: ENSMUST00000113543

SMART Domains

Protein: ENSMUSP00000109171
Gene: ENSMUSG00000024799

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 damaging
Transcript: ENSMUST00000159832
AA Change: R718S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123994
Gene: ENSMUSG00000024797
AA Change: R718S

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 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: ENSMUST00000160233

SMART Domains

Protein: ENSMUSP00000124842
Gene: ENSMUSG00000024797

Domain	Start	End	E-Value	Type
low complexity region	2	25	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: 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: ENSMUST00000161718

SMART Domains

Protein: ENSMUSP00000124283
Gene: ENSMUSG00000024799

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

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: ENSMUST00000162810

SMART Domains

Protein: ENSMUSP00000124825
Gene: ENSMUSG00000024799

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

97% (63/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	C	A	12: 88,422,390 (GRCm39)	L334I	probably damaging	Het
Akap9	T	A	5: 4,010,551 (GRCm39)	M436K	probably benign	Het
Ankmy1	A	C	1: 92,816,173 (GRCm39)	F314V	probably null	Het
Arid5b	G	A	10: 68,022,042 (GRCm39)	Q183*	probably null	Het
Atp8b4	A	T	2: 126,200,834 (GRCm39)	L778*	probably null	Het
BC024139	G	T	15: 76,004,221 (GRCm39)	N739K	probably benign	Het
Carns1	T	G	19: 4,219,912 (GRCm39)	H441P	probably benign	Het
Cby2	T	A	14: 75,830,098 (GRCm39)	T32S	probably benign	Het
Ccdc121rt3	A	T	5: 112,502,523 (GRCm39)	W394R	probably damaging	Het
Cfap70	T	A	14: 20,459,153 (GRCm39)	I693F	probably benign	Het
Cldn3	A	G	5: 135,015,426 (GRCm39)	Q43R	probably damaging	Het
Col7a1	C	T	9: 108,796,686 (GRCm39)	P1608L	probably benign	Het
Cr2	T	A	1: 194,853,454 (GRCm39)	Y28F	probably benign	Het
Cyp2c38	T	A	19: 39,424,512 (GRCm39)	I269F	probably damaging	Het
Dapk1	A	T	13: 60,844,256 (GRCm39)	I92F	probably damaging	Het
Dennd4a	T	A	9: 64,759,771 (GRCm39)	L292*	probably null	Het
Dhx38	T	C	8: 110,286,231 (GRCm39)	E353G	probably benign	Het
Dnm3	T	C	1: 162,145,966 (GRCm39)		probably null	Het
Dzip3	T	C	16: 48,762,488 (GRCm39)	I794V	possibly damaging	Het
Eif2b5	T	A	16: 20,321,500 (GRCm39)	V351D	possibly damaging	Het
Epg5	T	A	18: 78,022,380 (GRCm39)	V1041E	probably benign	Het
Exoc4	A	G	6: 33,898,388 (GRCm39)	K869R	possibly damaging	Het
Fat3	C	A	9: 16,289,044 (GRCm39)	V160F	probably benign	Het
Gak	A	T	5: 108,750,816 (GRCm39)	Y365N	probably benign	Het
Ghrhr	T	A	6: 55,360,104 (GRCm39)		probably null	Het
Gm21738	A	G	14: 19,415,933 (GRCm38)	M202T	probably benign	Het
Havcr2	C	T	11: 46,366,738 (GRCm39)	S177L	probably benign	Het
Hkdc1	G	C	10: 62,237,711 (GRCm39)	R353G	possibly damaging	Het
Ifi208	G	A	1: 173,510,444 (GRCm39)	G200S	probably damaging	Het
Klhl20	T	C	1: 160,921,266 (GRCm39)	D63G	possibly damaging	Het
Lair1	A	T	7: 4,058,952 (GRCm39)	V12E	possibly damaging	Het
Lipo3	T	C	19: 33,562,293 (GRCm39)	N26D	probably damaging	Het
Lyst	T	A	13: 13,900,629 (GRCm39)	D3168E	probably benign	Het
Map6	G	A	7: 98,917,454 (GRCm39)	A76T	probably damaging	Het
Mcoln3	A	T	3: 145,843,011 (GRCm39)		probably null	Het
Muc4	T	C	16: 32,587,312 (GRCm39)	F2718L	probably benign	Het
Nek11	C	G	9: 105,270,256 (GRCm39)		probably benign	Het
Or10n7-ps1	T	C	9: 39,597,832 (GRCm39)	E136G	unknown	Het
Or2z8	C	A	8: 72,811,574 (GRCm39)	L17I	probably benign	Het
Or4d6	A	G	19: 12,086,490 (GRCm39)	V140A	probably benign	Het
Pcdh15	A	T	10: 74,479,641 (GRCm39)	E846V	probably benign	Het
Pcdhga8	C	T	18: 37,858,998 (GRCm39)	T18M	probably benign	Het
Per3	T	C	4: 151,128,106 (GRCm39)	M61V	possibly damaging	Het
Pfas	C	T	11: 68,883,007 (GRCm39)	R759Q	probably benign	Het
Pitpnm1	A	G	19: 4,156,947 (GRCm39)	Y490C	possibly damaging	Het
Plcb4	A	T	2: 135,789,035 (GRCm39)	I272F	possibly damaging	Het
Ppp1r3b	A	G	8: 35,851,821 (GRCm39)	Y220C	probably damaging	Het
Prkce	G	C	17: 86,800,835 (GRCm39)	G417A	probably damaging	Het
Ptar1	A	G	19: 23,680,501 (GRCm39)	N106D	probably damaging	Het
Rbm15	C	A	3: 107,239,627 (GRCm39)	R257L	probably benign	Het
Rptor	T	G	11: 119,647,171 (GRCm39)	M254R	probably damaging	Het
Runx1t1	T	A	4: 13,865,257 (GRCm39)	W350R	probably damaging	Het
Ryr2	T	G	13: 11,760,487 (GRCm39)	Y1532S	probably damaging	Het
Serpina1a	C	A	12: 103,820,110 (GRCm39)	V379L	possibly damaging	Het
Sox8	C	T	17: 25,786,888 (GRCm39)	V272I	probably damaging	Het
Stard9	C	T	2: 120,533,111 (GRCm39)	H3123Y	probably benign	Het
Taar9	C	T	10: 23,984,910 (GRCm39)	E175K	possibly damaging	Het
Tinag	T	A	9: 76,908,897 (GRCm39)	Y348F	probably damaging	Het
Tktl2	T	C	8: 66,965,687 (GRCm39)	I415T	probably damaging	Het
Tmem229a	G	T	6: 24,954,657 (GRCm39)	Q366K	probably benign	Het
Txndc2	T	C	17: 65,945,286 (GRCm39)	D297G	probably benign	Het
Ulk4	A	G	9: 121,087,886 (GRCm39)	F269L	probably benign	Het
Vps39	A	T	2: 120,151,512 (GRCm39)	Y738*	probably null	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
R3415:Tm7sf2	UTSW	19	6,113,629 (GRCm39)	missense	probably damaging	1.00
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
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'- ACACTAGGTTCCATGGGCAC -3'
(R):5'- ATGAGGCCCCATCTCTGATC -3'

Sequencing Primer
(F):5'- TTCCATGGGCACTGGGTC -3'
(R):5'- ATCTCTGATCTGACCACCGGG -3'

Posted On

2018-11-06