Mutagenetix > Incidental Mutation

Incidental Mutation 'R6949:Tm4sf19'

543261

Institutional Source

Beutler Lab

Gene Symbol

Tm4sf19

Ensembl Gene

ENSMUSG00000079625

Gene Name

transmembrane 4 L six family member 19

Synonyms

EG277203

MMRRC Submission

045061-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R6949 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32219324-32227045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32224676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 8 (V8A)

Ref Sequence

ENSEMBL: ENSMUSP00000110802 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115149]

AlphaFold

E9Q9H8

Predicted Effect

probably benign
Transcript: ENSMUST00000115149
AA Change: V8A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000110802
Gene: ENSMUSG00000079625
AA Change: V8A

Domain	Start	End	E-Value	Type
Pfam:L6_membrane	9	204	1.1e-57	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.8%
20x: 95.1%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	G	T	3: 126,804,533 (GRCm39)	D679E	probably benign	Het
Catsper4	A	T	4: 133,953,058 (GRCm39)	Y96N	probably benign	Het
Cnksr3	T	C	10: 7,110,757 (GRCm39)	I35V	probably benign	Het
Col16a1	A	G	4: 129,953,116 (GRCm39)	E424G	probably damaging	Het
Ctsc	G	T	7: 87,930,666 (GRCm39)	G82W	probably damaging	Het
Cxcr4	T	C	1: 128,517,352 (GRCm39)	D101G	probably benign	Het
Dapk1	T	A	13: 60,884,138 (GRCm39)	N635K	probably benign	Het
Dop1a	T	C	9: 86,382,913 (GRCm39)	M282T	probably damaging	Het
Dpysl4	G	A	7: 138,671,915 (GRCm39)	E172K	probably damaging	Het
Efcab3	A	C	11: 104,799,896 (GRCm39)	T2931P	probably damaging	Het
Eif2ak3	T	C	6: 70,855,829 (GRCm39)	I211T	probably damaging	Het
Fbxw22	A	T	9: 109,211,144 (GRCm39)	W386R	probably benign	Het
Garin1b	T	A	6: 29,323,905 (GRCm39)	I210N	probably damaging	Het
Grm7	A	G	6: 110,623,265 (GRCm39)	K146R	probably benign	Het
Grm7	C	A	6: 111,472,690 (GRCm39)	P843Q	probably damaging	Het
Gtf2e2	A	G	8: 34,248,726 (GRCm39)	D171G	probably damaging	Het
Hyal5	T	C	6: 24,876,303 (GRCm39)	S59P	probably benign	Het
Il7r	T	A	15: 9,508,090 (GRCm39)	T411S	probably damaging	Het
Kcp	T	A	6: 29,484,611 (GRCm39)		probably null	Het
Krcc1	T	C	6: 71,261,135 (GRCm39)	Y56H	probably benign	Het
Lmo2	T	A	2: 103,801,018 (GRCm39)	M1K	probably null	Het
Lrit3	G	A	3: 129,582,934 (GRCm39)	T351I	probably damaging	Het
Mcu	T	G	10: 59,292,566 (GRCm39)	T38P	possibly damaging	Het
Mylk	T	A	16: 34,820,688 (GRCm39)	I89N	probably damaging	Het
Ncoa2	A	T	1: 13,226,725 (GRCm39)	C996S	possibly damaging	Het
Npr2	A	G	4: 43,640,597 (GRCm39)	E350G	probably damaging	Het
Or5an1b	T	C	19: 12,299,792 (GRCm39)	Y133C	probably damaging	Het
Pald1	T	C	10: 61,156,996 (GRCm39)	E818G	probably benign	Het
Phf19	G	T	2: 34,794,143 (GRCm39)	Q210K	probably damaging	Het
Pomgnt1	G	A	4: 116,011,351 (GRCm39)	V250M	probably damaging	Het
Ppm1l	T	A	3: 69,456,736 (GRCm39)	C218S	possibly damaging	Het
Prkdc	G	A	16: 15,617,853 (GRCm39)	R3228H	probably benign	Het
Pros1	A	T	16: 62,744,938 (GRCm39)	T518S	probably benign	Het
Rdh8	T	A	9: 20,734,003 (GRCm39)	V63D	probably benign	Het
Rexo1	A	G	10: 80,386,470 (GRCm39)	V196A	possibly damaging	Het
Scgb2b20	A	T	7: 33,065,724 (GRCm39)	M1K	probably null	Het
Scn11a	A	G	9: 119,594,580 (GRCm39)	V1271A	probably benign	Het
Serac1	C	A	17: 6,102,090 (GRCm39)	D395Y	probably damaging	Het
Syne2	A	G	12: 76,012,771 (GRCm39)	D2655G	probably benign	Het
Usp3	A	T	9: 66,427,972 (GRCm39)	D334E	probably benign	Het
Uty	C	T	Y: 1,240,000 (GRCm39)		probably null	Het
Vmn2r7	T	C	3: 64,598,542 (GRCm39)	N672D	probably damaging	Het
Vmn2r96	T	A	17: 18,818,100 (GRCm39)	L751H	probably damaging	Het
Wnk2	T	C	13: 49,254,616 (GRCm39)	S300G	probably damaging	Het
Zp3r	G	T	1: 130,505,632 (GRCm39)	S508R	probably benign	Het

Other mutations in Tm4sf19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01094:Tm4sf19	APN	16	32,224,772 (GRCm39)	missense	possibly damaging	0.63
IGL02468:Tm4sf19	APN	16	32,226,533 (GRCm39)	splice site	probably benign
IGL02573:Tm4sf19	APN	16	32,226,678 (GRCm39)	missense	possibly damaging	0.88
IGL02938:Tm4sf19	APN	16	32,224,733 (GRCm39)	missense	probably damaging	0.98
R1306:Tm4sf19	UTSW	16	32,226,720 (GRCm39)	missense	probably damaging	1.00
R1450:Tm4sf19	UTSW	16	32,226,781 (GRCm39)	missense	probably damaging	1.00
R1522:Tm4sf19	UTSW	16	32,224,820 (GRCm39)	missense	possibly damaging	0.61
R1895:Tm4sf19	UTSW	16	32,226,500 (GRCm39)	missense	probably damaging	1.00
R4407:Tm4sf19	UTSW	16	32,226,712 (GRCm39)	missense	possibly damaging	0.77
R5527:Tm4sf19	UTSW	16	32,226,739 (GRCm39)	missense	probably damaging	1.00
R6166:Tm4sf19	UTSW	16	32,226,681 (GRCm39)	missense	probably damaging	1.00
R7269:Tm4sf19	UTSW	16	32,224,814 (GRCm39)	missense	probably damaging	0.98
R7316:Tm4sf19	UTSW	16	32,226,466 (GRCm39)	missense	possibly damaging	0.82
R7993:Tm4sf19	UTSW	16	32,226,458 (GRCm39)	missense	possibly damaging	0.90
Z1177:Tm4sf19	UTSW	16	32,224,741 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTCCTGTATATTGGGGAAGGC -3'
(R):5'- GGGAATTCCTCCTCACTGAACC -3'

Sequencing Primer
(F):5'- CCTGTATATTGGGGAAGGCTTAGAAG -3'
(R):5'- GACACATACCATGAGGCCTC -3'

Posted On

2018-11-28