Mutagenetix > Incidental Mutation

Incidental Mutation 'R5684:Bspry'

443220

Institutional Source

Beutler Lab

Gene Symbol

Bspry

Ensembl Gene

ENSMUSG00000028392

Gene Name

B-box and SPRY domain containing

Synonyms

zetin 1

MMRRC Submission

043178-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R5684 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62398290-62415535 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62414519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 371 (F371L)

Ref Sequence

ENSEMBL: ENSMUSP00000103073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030088] [ENSMUST00000037820] [ENSMUST00000107449]

AlphaFold

Q80YW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030088
AA Change: F371L

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030088
Gene: ENSMUSG00000028392
AA Change: F371L

Domain	Start	End	E-Value	Type
low complexity region	9	60	N/A	INTRINSIC
Pfam:zf-B_box	65	107	1.2e-8	PFAM
low complexity region	225	239	N/A	INTRINSIC
PRY	277	330	1.79e-15	SMART
Pfam:SPRY	333	451	3.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000037820

SMART Domains

Protein: ENSMUSP00000036337
Gene: ENSMUSG00000038422

Domain	Start	End	E-Value	Type
Pfam:Hydrolase	7	205	1.3e-15	PFAM
Pfam:HAD_2	10	211	8.9e-20	PFAM
Pfam:Hydrolase_like	164	237	1e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107449
AA Change: F371L

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103073
Gene: ENSMUSG00000028392
AA Change: F371L

Domain	Start	End	E-Value	Type
low complexity region	9	60	N/A	INTRINSIC
Pfam:zf-B_box	65	107	4.4e-9	PFAM
low complexity region	225	239	N/A	INTRINSIC
PRY	277	330	1.79e-15	SMART
Pfam:SPRY	331	452	1.1e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140038

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	A	G	5: 115,017,621 (GRCm39)	D144G	possibly damaging	Het
AU040320	A	G	4: 126,685,939 (GRCm39)	T172A	probably benign	Het
Cacna1c	A	G	6: 118,664,005 (GRCm39)	F555L	probably damaging	Het
Colec12	T	C	18: 9,849,009 (GRCm39)	S396P	probably damaging	Het
Creb3l1	A	G	2: 91,821,076 (GRCm39)	V336A	probably damaging	Het
Crocc	T	C	4: 140,778,455 (GRCm39)	N85S	probably damaging	Het
Dcbld2	T	C	16: 58,270,172 (GRCm39)	S278P	possibly damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Ercc4	T	A	16: 12,948,465 (GRCm39)	C561S	probably benign	Het
Gab1	T	C	8: 81,496,299 (GRCm39)	K637R	probably damaging	Het
Grm5	T	C	7: 87,779,853 (GRCm39)	S1130P	probably benign	Het
H2-M10.6	A	T	17: 37,124,746 (GRCm39)	N221I	probably damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Kcnh5	T	A	12: 75,184,423 (GRCm39)	K100I	probably damaging	Het
Mgat4f	A	G	1: 134,317,660 (GRCm39)	D144G	probably benign	Het
Naip6	T	A	13: 100,436,888 (GRCm39)	Q545L	probably damaging	Het
Nkpd1	C	T	7: 19,257,498 (GRCm39)	Q276*	probably null	Het
Or13c7d	T	C	4: 43,770,624 (GRCm39)	N129S	probably benign	Het
Or5p63	A	T	7: 107,811,279 (GRCm39)	Y152*	probably null	Het
Or5p64	A	T	7: 107,855,246 (GRCm39)	I33N	possibly damaging	Het
Pidd1	A	T	7: 141,021,024 (GRCm39)		probably null	Het
Plec	A	G	15: 76,089,796 (GRCm39)		probably null	Het
Plekhh2	C	T	17: 84,905,346 (GRCm39)	A1080V	probably damaging	Het
Plppr3	A	T	10: 79,701,151 (GRCm39)	S564T	possibly damaging	Het
Ppp2ca	A	G	11: 52,004,154 (GRCm39)	K104E	probably damaging	Het
Rad54l	T	A	4: 115,957,760 (GRCm39)	K407M	probably damaging	Het
Sfn	T	A	4: 133,328,603 (GRCm39)	K160*	probably null	Het
Slc22a15	A	G	3: 101,770,271 (GRCm39)	S439P	probably damaging	Het
Slc6a2	T	A	8: 93,715,681 (GRCm39)	V273D	probably damaging	Het
Slc9a9	T	C	9: 94,937,561 (GRCm39)	F471S	possibly damaging	Het
Smc3	A	G	19: 53,629,235 (GRCm39)	E896G	probably benign	Het
Sorbs3	C	T	14: 70,418,671 (GRCm39)	R717Q	probably damaging	Het
Spg11	T	C	2: 121,923,984 (GRCm39)	E779G	probably damaging	Het
Spg7	T	C	8: 123,800,623 (GRCm39)	V66A	probably damaging	Het
Trmt11	A	G	10: 30,423,706 (GRCm39)	S400P	probably damaging	Het
Trpc6	T	C	9: 8,653,129 (GRCm39)	V567A	probably damaging	Het
Vmn2r103	T	G	17: 20,013,251 (GRCm39)	I124S	probably benign	Het
Vps13a	A	T	19: 16,676,409 (GRCm39)	M1188K	probably benign	Het
Vtn	G	A	11: 78,391,384 (GRCm39)	G266S	probably damaging	Het
Yeats2	T	C	16: 20,012,553 (GRCm39)	S640P	possibly damaging	Het
Zc3hav1	A	T	6: 38,288,214 (GRCm39)	M874K	probably benign	Het

Other mutations in Bspry

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Bspry	APN	4	62,414,342 (GRCm39)	missense	probably benign	0.44
IGL02186:Bspry	APN	4	62,414,226 (GRCm39)	splice site	probably benign
IGL02501:Bspry	APN	4	62,414,672 (GRCm39)	missense	probably benign	0.04
IGL02644:Bspry	APN	4	62,414,565 (GRCm39)	missense	probably damaging	1.00
R0041:Bspry	UTSW	4	62,404,791 (GRCm39)	missense	probably damaging	1.00
R0306:Bspry	UTSW	4	62,414,394 (GRCm39)	missense	probably damaging	1.00
R0560:Bspry	UTSW	4	62,404,686 (GRCm39)	missense	probably damaging	1.00
R1919:Bspry	UTSW	4	62,413,034 (GRCm39)	missense	probably damaging	1.00
R3038:Bspry	UTSW	4	62,415,220 (GRCm39)	missense	probably benign	0.36
R4431:Bspry	UTSW	4	62,400,904 (GRCm39)	missense	possibly damaging	0.95
R4690:Bspry	UTSW	4	62,404,762 (GRCm39)	missense	probably damaging	0.98
R4735:Bspry	UTSW	4	62,404,762 (GRCm39)	missense	probably damaging	0.98
R5432:Bspry	UTSW	4	62,400,952 (GRCm39)	missense	probably benign	0.01
R7209:Bspry	UTSW	4	62,404,852 (GRCm39)	missense	possibly damaging	0.86
R7680:Bspry	UTSW	4	62,414,828 (GRCm39)	makesense	probably null
R7708:Bspry	UTSW	4	62,414,337 (GRCm39)	missense	probably benign	0.36
R9631:Bspry	UTSW	4	62,400,955 (GRCm39)	critical splice donor site	probably null
X0025:Bspry	UTSW	4	62,398,435 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGCTCAGATGAACCAGAGC -3'
(R):5'- TCAGCCACAGCAAAGACTGG -3'

Sequencing Primer
(F):5'- CTCAGATGAACCAGAGCGCTTTG -3'
(R):5'- CACCTGAGGGAAGGACGCAC -3'

Posted On

2016-11-09