Mutagenetix > Incidental Mutation

Incidental Mutation 'R6412:BC025920'

514634

Institutional Source

Beutler Lab

Gene Symbol

BC025920

Ensembl Gene

ENSMUSG00000074862

Gene Name

cDNA sequence BC025920

Synonyms

MMRRC Submission

044385-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R6412 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81442142-81445670 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81445195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 106 (V106A)

Ref Sequence

ENSEMBL: ENSMUSP00000113598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099442] [ENSMUST00000119492] [ENSMUST00000119753] [ENSMUST00000121138]

AlphaFold

Q3US60

Predicted Effect

probably benign
Transcript: ENSMUST00000099442
AA Change: V106A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000097041
Gene: ENSMUSG00000074862
AA Change: V106A

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	30	1.41e2	SMART
ZnF_C2H2	36	58	5.38e-6	SMART
ZnF_C2H2	64	86	2.29e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119492
AA Change: V106A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113938
Gene: ENSMUSG00000074862
AA Change: V106A

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	30	1.41e2	SMART
ZnF_C2H2	36	58	5.38e-6	SMART
ZnF_C2H2	64	86	2.29e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119753
AA Change: V106A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113471
Gene: ENSMUSG00000074862
AA Change: V106A

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	30	1.41e2	SMART
ZnF_C2H2	36	58	5.38e-6	SMART
ZnF_C2H2	64	86	2.29e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121138
AA Change: V106A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113598
Gene: ENSMUSG00000074862
AA Change: V106A

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	30	1.41e2	SMART
ZnF_C2H2	36	58	5.38e-6	SMART
ZnF_C2H2	64	86	2.29e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126940

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180482

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	G	9: 107,807,116 (GRCm39)	I480V	probably benign	Het
Bhlhe23	A	G	2: 180,417,963 (GRCm39)	F192L	possibly damaging	Het
Cftr	C	T	6: 18,285,603 (GRCm39)	T1137I	probably damaging	Het
Chst8	T	C	7: 34,375,504 (GRCm39)	M112V	probably benign	Het
Cilk1	T	C	9: 78,047,258 (GRCm39)	S53P	probably damaging	Het
Fbxw26	T	A	9: 109,561,715 (GRCm39)	M160L	probably damaging	Het
Gm3264	A	G	14: 16,058,238 (GRCm39)	K81R	probably damaging	Het
Htr3b	T	C	9: 48,857,819 (GRCm39)	N141S	possibly damaging	Het
Itgb2l	T	C	16: 96,228,929 (GRCm39)	S425G	probably benign	Het
Kbtbd12	T	C	6: 88,595,638 (GRCm39)	E64G	probably damaging	Het
Lct	T	C	1: 128,255,455 (GRCm39)	T196A	probably benign	Het
Luzp2	T	C	7: 54,707,794 (GRCm39)	S61P	probably damaging	Het
Or4b1b	G	T	2: 90,112,202 (GRCm39)	A239D	probably damaging	Het
Or5l14	A	T	2: 87,792,693 (GRCm39)	L181Q	probably damaging	Het
Rag1	A	G	2: 101,472,865 (GRCm39)	V759A	probably damaging	Het
Ret	C	T	6: 118,161,245 (GRCm39)	R77H	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Sbno1	T	C	5: 124,530,777 (GRCm39)	T840A	probably damaging	Het
Skic2	A	G	17: 35,059,276 (GRCm39)	V1057A	possibly damaging	Het
Spocd1	C	T	4: 129,847,365 (GRCm39)	S518L	probably benign	Het
Thbs2	A	C	17: 14,897,339 (GRCm39)	L723R	probably damaging	Het
Vmn1r223	G	T	13: 23,433,825 (GRCm39)	V140F	probably benign	Het
Vmn2r52	A	G	7: 9,904,936 (GRCm39)	V301A	probably benign	Het
Vwf	T	C	6: 125,656,279 (GRCm39)	F2615L	probably benign	Het
Wdr81	G	T	11: 75,341,989 (GRCm39)	P1093T	probably benign	Het
Xdh	T	C	17: 74,242,902 (GRCm39)	E135G	probably benign	Het
Zfp990	C	A	4: 145,264,138 (GRCm39)	P379T	probably benign	Het

Other mutations in BC025920

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01764:BC025920	APN	10	81,444,984 (GRCm39)	missense	probably damaging	1.00
IGL03094:BC025920	APN	10	81,444,906 (GRCm39)	missense	probably benign	0.00
R6683:BC025920	UTSW	10	81,445,135 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGTCTTCCCTTCAAGAGCAC -3'
(R):5'- TTCCACTCAGTAGAGGACACTTC -3'

Sequencing Primer
(F):5'- TTCCCTTCAAGAGCACATCAGGATG -3'
(R):5'- GAGGACACTTCTCATATGCATGGTC -3'

Posted On

2018-05-04