Mutagenetix > Incidental Mutation

Incidental Mutation 'R9038:Tm7sf2'

687575

Institutional Source

Beutler Lab

Gene Symbol

Tm7sf2

Ensembl Gene

ENSMUSG00000024799

Gene Name

transmembrane 7 superfamily member 2

Synonyms

ANG1, 3110041O18Rik

MMRRC Submission

068866-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9038 (G1)

Quality Score

89.0077

Status

Not validated

Chromosome

Chromosomal Location

6112851-6117880 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6117172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 77 (Y77C)

Ref Sequence

ENSEMBL: ENSMUSP00000025713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025711] [ENSMUST00000025713] [ENSMUST00000113543] [ENSMUST00000159084] [ENSMUST00000159832] [ENSMUST00000160028] [ENSMUST00000160233] [ENSMUST00000161090] [ENSMUST00000161528] [ENSMUST00000161718] [ENSMUST00000162575] [ENSMUST00000162726] [ENSMUST00000162810]

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: Y77C

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

SMART Domains

Protein: ENSMUSP00000025713
Gene: ENSMUSG00000024799
AA Change: Y77C

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 damaging
Transcript: ENSMUST00000113543
AA Change: Y77C

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

SMART Domains

Protein: ENSMUSP00000109171
Gene: ENSMUSG00000024799
AA Change: Y77C

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 damaging
Transcript: ENSMUST00000159084
AA Change: Y77C

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

SMART Domains

Protein: ENSMUSP00000124868
Gene: ENSMUSG00000024799
AA Change: Y77C

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 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 damaging
Transcript: ENSMUST00000161090
AA Change: Y77C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125543
Gene: ENSMUSG00000024799
AA Change: Y77C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161528
AA Change: Y77C

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

SMART Domains

Protein: ENSMUSP00000123989
Gene: ENSMUSG00000024799
AA Change: Y77C

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 damaging
Transcript: ENSMUST00000162575
AA Change: Y77C

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125586
Gene: ENSMUSG00000024799
AA Change: Y77C

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: 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: 99.8%
10x: 98.9%
20x: 95.4%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,895,651 (GRCm39)	C382S	probably benign	Het
Abcf2	A	G	5: 24,776,191 (GRCm39)	V296A	possibly damaging	Het
Aco2	C	G	15: 81,756,620 (GRCm39)		probably benign	Het
Acvrl1	A	G	15: 101,039,011 (GRCm39)	D436G	possibly damaging	Het
Adamts7	A	G	9: 90,056,692 (GRCm39)	I254V		Het
Arhgef18	A	G	8: 3,503,257 (GRCm39)	I888V	probably benign	Het
Arhgef40	C	A	14: 52,235,072 (GRCm39)	A1083D	probably damaging	Het
Arnt2	C	A	7: 83,954,059 (GRCm39)	A275S	probably benign	Het
Brd10	A	T	19: 29,731,900 (GRCm39)	Y371N	possibly damaging	Het
Brip1	C	T	11: 86,080,599 (GRCm39)	V156I	probably benign	Het
Camk4	C	A	18: 33,291,953 (GRCm39)	C204*	probably null	Het
Cenpe	A	G	3: 134,923,797 (GRCm39)	T161A	probably benign	Het
Chd2	G	A	7: 73,105,358 (GRCm39)	H1256Y	probably damaging	Het
Chd9	G	A	8: 91,716,233 (GRCm39)	V936I	unknown	Het
D6Ertd527e	A	G	6: 87,089,233 (GRCm39)	*465W	probably null	Het
Dcaf11	T	A	14: 55,803,114 (GRCm39)	D309E	probably damaging	Het
Dtna	A	G	18: 23,743,553 (GRCm39)	N373S	probably benign	Het
Eif2b2	A	G	12: 85,266,897 (GRCm39)	D104G	probably benign	Het
Fras1	A	T	5: 96,874,742 (GRCm39)	T2302S	probably benign	Het
Gga1	A	G	15: 78,768,321 (GRCm39)	K114E	probably damaging	Het
Gm12887	A	G	4: 121,473,616 (GRCm39)		probably null	Het
Gss	A	T	2: 155,406,794 (GRCm39)	I396N		Het
H2-M5	T	C	17: 37,299,422 (GRCm39)	I199M	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ift172	G	T	5: 31,441,399 (GRCm39)	T245K	possibly damaging	Het
Ift70a2	G	A	2: 75,808,215 (GRCm39)	T99I	probably benign	Het
Iqck	A	G	7: 118,498,881 (GRCm39)	D173G	probably damaging	Het
Itga11	A	G	9: 62,675,039 (GRCm39)	N857S	possibly damaging	Het
Kdm1b	C	A	13: 47,202,770 (GRCm39)	S68R	probably benign	Het
Ly6c1	C	A	15: 74,917,300 (GRCm39)	G116V	probably damaging	Het
Myo6	G	T	9: 80,162,285 (GRCm39)	V341L	unknown	Het
Nfkbie	C	A	17: 45,870,183 (GRCm39)	A176E	probably damaging	Het
Nlrp2	C	T	7: 5,330,478 (GRCm39)	M639I	probably benign	Het
Or10g3	T	A	14: 52,609,716 (GRCm39)	S265C	probably damaging	Het
Or10j2	T	A	1: 173,098,147 (GRCm39)	I135N	possibly damaging	Het
Or56a41	T	C	7: 104,740,433 (GRCm39)	I138V	probably benign	Het
Or5w16	A	G	2: 87,577,125 (GRCm39)	N195S	probably damaging	Het
Or6c215	T	C	10: 129,637,564 (GRCm39)	T277A	probably damaging	Het
Or8k40	A	T	2: 86,584,354 (GRCm39)	S243T	probably damaging	Het
Pak4	G	A	7: 28,264,263 (GRCm39)	T213M	probably damaging	Het
Pan2	C	T	10: 128,153,810 (GRCm39)	Q1003*	probably null	Het
Pde4c	G	C	8: 71,179,550 (GRCm39)	V34L	probably benign	Het
Pi4k2a	G	A	19: 42,089,235 (GRCm39)	V199M	probably damaging	Het
Platr25	T	C	13: 62,848,007 (GRCm39)	E285G	probably damaging	Het
Polr3e	T	C	7: 120,536,906 (GRCm39)	V356A	possibly damaging	Het
Prcp	A	G	7: 92,567,017 (GRCm39)	D243G	probably benign	Het
Qsox2	T	C	2: 26,115,246 (GRCm39)	T161A	probably damaging	Het
Rhoj	A	G	12: 75,355,700 (GRCm39)	T35A		Het
Scn9a	T	A	2: 66,325,147 (GRCm39)	M1336L	probably damaging	Het
Sel1l2	G	T	2: 140,117,384 (GRCm39)	N162K	probably damaging	Het
Slc15a3	T	C	19: 10,820,866 (GRCm39)	L161P	probably damaging	Het
Slc4a11	G	A	2: 130,533,663 (GRCm39)	A100V	probably damaging	Het
Sp1	A	G	15: 102,316,320 (GRCm39)	S41G	probably benign	Het
Tbx15	A	G	3: 99,222,085 (GRCm39)	M183V	probably benign	Het
Tfip11	A	G	5: 112,481,214 (GRCm39)	T397A	possibly damaging	Het
Themis	T	C	10: 28,657,749 (GRCm39)	S259P	probably damaging	Het
Tnnt2	C	A	1: 135,774,484 (GRCm39)	P81H	possibly damaging	Het
Trpc7	T	C	13: 57,035,886 (GRCm39)	T16A	probably benign	Het
Ttn	T	A	2: 76,745,056 (GRCm39)	Y5331F	possibly damaging	Het
Virma	A	G	4: 11,526,922 (GRCm39)	Q1057R	possibly damaging	Het
Vmn2r118	A	T	17: 55,918,649 (GRCm39)	F81Y	probably damaging	Het
Vmn2r88	T	C	14: 51,651,490 (GRCm39)	V268A		Het
Vmn2r93	T	A	17: 18,524,471 (GRCm39)	M155K	probably benign	Het
Vps13b	G	T	15: 35,875,931 (GRCm39)	C2772F	possibly damaging	Het
Wdr90	T	C	17: 26,076,200 (GRCm39)	N86D		Het
Zbtb34	T	C	2: 33,301,248 (GRCm39)	D431G	probably damaging	Het
Zc3h3	G	A	15: 75,711,237 (GRCm39)	P408L	probably benign	Het
Zfp345	A	G	2: 150,313,864 (GRCm39)	Y558H	probably benign	Het
Zfp583	G	A	7: 6,319,543 (GRCm39)	P490S	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCATTAATAGGGTAGCGCAGG -3'
(R):5'- CTTGAGAGAGCTCTTGGGAG -3'

Sequencing Primer
(F):5'- AGGCGACTCTTGTCCTTCAG -3'
(R):5'- GAGCAGTCACGCTACACAGTG -3'

Posted On

2021-11-19