Mutagenetix > Incidental Mutation

Incidental Mutation 'R7875:Mzb1'

608411

Institutional Source

Beutler Lab

Gene Symbol

Mzb1

Ensembl Gene

ENSMUSG00000024353

Gene Name

marginal zone B and B1 cell-specific protein 1

Synonyms

pERp1, 2010001M09Rik

MMRRC Submission

045927-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R7875 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35780320-35782420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35780913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 125 (I125T)

Ref Sequence

ENSEMBL: ENSMUSP00000025211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025211] [ENSMUST00000097619] [ENSMUST00000190196]

AlphaFold

Q9D8I1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025211
AA Change: I125T

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025211
Gene: ENSMUSG00000024353
AA Change: I125T

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:DUF3456	48	177	5.8e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097619

SMART Domains

Protein: ENSMUSP00000095224
Gene: ENSMUSG00000073600

Domain	Start	End	E-Value	Type
low complexity region	78	102	N/A	INTRINSIC
low complexity region	142	155	N/A	INTRINSIC
low complexity region	207	223	N/A	INTRINSIC
low complexity region	377	396	N/A	INTRINSIC
low complexity region	536	553	N/A	INTRINSIC
low complexity region	829	848	N/A	INTRINSIC
Pfam:DUF4585	862	931	4.6e-27	PFAM
low complexity region	989	1002	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190196

SMART Domains

Protein: ENSMUSP00000140465
Gene: ENSMUSG00000073600

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
low complexity region	82	106	N/A	INTRINSIC
low complexity region	146	159	N/A	INTRINSIC
low complexity region	211	227	N/A	INTRINSIC
low complexity region	381	400	N/A	INTRINSIC
low complexity region	540	557	N/A	INTRINSIC
low complexity region	833	852	N/A	INTRINSIC
Pfam:DUF4585	864	936	7.5e-27	PFAM
low complexity region	993	1006	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	T	16: 30,958,459 (GRCm39)	F102I	probably damaging	Het
Acp7	A	T	7: 28,314,152 (GRCm39)	Y348N	probably damaging	Het
Adgre4	A	T	17: 56,099,016 (GRCm39)	D174V	probably benign	Het
Ahdc1	A	G	4: 132,791,161 (GRCm39)	T801A	possibly damaging	Het
Aldh1a7	A	C	19: 20,693,343 (GRCm39)	V192G	possibly damaging	Het
Anp32b	T	G	4: 46,451,301 (GRCm39)	D2E	probably benign	Het
Arhgef11	A	T	3: 87,591,808 (GRCm39)	D53V	probably damaging	Het
Arid5b	T	C	10: 67,964,771 (GRCm39)	N300S	probably benign	Het
Ascc2	A	G	11: 4,618,389 (GRCm39)	N328S	probably benign	Het
Aspm	A	T	1: 139,382,872 (GRCm39)	Q68L	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ccser1	A	T	6: 61,288,932 (GRCm39)	H365L	probably benign	Het
Col1a2	T	A	6: 4,518,500 (GRCm39)	N213K	unknown	Het
Col7a1	T	C	9: 108,787,763 (GRCm39)	V681A	unknown	Het
Cplane1	A	G	15: 8,239,446 (GRCm39)	I1216V	probably benign	Het
Dock9	A	T	14: 121,863,396 (GRCm39)	Y792*	probably null	Het
Fam241b	A	T	10: 61,970,271 (GRCm39)	S10R		Het
Gab1	C	T	8: 81,515,395 (GRCm39)	D308N	probably damaging	Het
Gdf11	C	T	10: 128,722,210 (GRCm39)	R215H	probably benign	Het
Gpc1	T	C	1: 92,782,970 (GRCm39)		probably null	Het
Hnf4a	G	T	2: 163,400,980 (GRCm39)	E200*	probably null	Het
Ints2	T	C	11: 86,103,888 (GRCm39)	T1086A	probably damaging	Het
Kbtbd7	A	G	14: 79,664,806 (GRCm39)	T213A	probably benign	Het
Kcnt2	A	G	1: 140,501,385 (GRCm39)	D917G	probably damaging	Het
Kdm5a	C	A	6: 120,375,979 (GRCm39)	Y578*	probably null	Het
Lrrtm4	A	T	6: 79,999,343 (GRCm39)	T252S	possibly damaging	Het
Mamdc4	C	T	2: 25,458,677 (GRCm39)	W305*	probably null	Het
Nfrkb	A	G	9: 31,321,450 (GRCm39)	T716A	possibly damaging	Het
Or2ad1	T	A	13: 21,327,093 (GRCm39)	I45F	probably damaging	Het
Or4f6	A	G	2: 111,839,192 (GRCm39)	V113A	probably benign	Het
Or52r1b	A	G	7: 102,691,060 (GRCm39)	M120V	probably damaging	Het
Or8k16	G	A	2: 85,519,838 (GRCm39)	E22K	probably benign	Het
Plcxd2	G	A	16: 45,830,065 (GRCm39)	A52V	possibly damaging	Het
Poteg	C	T	8: 27,939,942 (GRCm39)	P95L	probably benign	Het
Prdm9	A	T	17: 15,773,804 (GRCm39)	Y322*	probably null	Het
Rab11fip2	G	C	19: 59,925,655 (GRCm39)	I187M	possibly damaging	Het
Ranbp2	G	T	10: 58,314,277 (GRCm39)	E1666*	probably null	Het
Rin3	T	C	12: 102,335,735 (GRCm39)	S549P	probably damaging	Het
Scn10a	C	T	9: 119,464,508 (GRCm39)		probably null	Het
Scn3a	A	G	2: 65,327,826 (GRCm39)	F888S	probably damaging	Het
Sik3	T	A	9: 46,034,528 (GRCm39)	I96N	probably damaging	Het
Slc12a7	T	A	13: 73,936,723 (GRCm39)	C128S	possibly damaging	Het
Spata31h1	T	C	10: 82,123,456 (GRCm39)	S3185G	possibly damaging	Het
Syde2	A	G	3: 145,726,020 (GRCm39)	E1304G	probably damaging	Het
Tagln	T	C	9: 45,841,680 (GRCm39)	I199V	probably damaging	Het
Tars3	T	A	7: 65,327,899 (GRCm39)	V536E	probably benign	Het
Tas2r140	A	G	6: 40,469,097 (GRCm39)	K309R	probably damaging	Het
Thra	A	T	11: 98,659,257 (GRCm39)	D462V	probably damaging	Het
Topaz1	A	G	9: 122,578,652 (GRCm39)	T521A	possibly damaging	Het
Uhrf1	A	G	17: 56,619,884 (GRCm39)	N265S	possibly damaging	Het
Upk3b	A	T	5: 136,069,057 (GRCm39)	Y142F	probably benign	Het
Vmn1r219	T	C	13: 23,347,363 (GRCm39)	V184A	possibly damaging	Het
Vmn1r58	T	C	7: 5,413,753 (GRCm39)	D159G	probably damaging	Het
Vnn3	C	A	10: 23,743,146 (GRCm39)	A452D	possibly damaging	Het
Wscd1	T	A	11: 71,679,560 (GRCm39)	Y478N	probably damaging	Het
Xrcc5	C	T	1: 72,369,090 (GRCm39)	R315C	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	probably damaging	Het

Other mutations in Mzb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01339:Mzb1	APN	18	35,781,399 (GRCm39)	missense	probably benign	0.00
IGL02354:Mzb1	APN	18	35,782,250 (GRCm39)	missense	possibly damaging	0.61
IGL02361:Mzb1	APN	18	35,782,250 (GRCm39)	missense	possibly damaging	0.61
R1511:Mzb1	UTSW	18	35,780,875 (GRCm39)	critical splice donor site	probably null
R4906:Mzb1	UTSW	18	35,781,006 (GRCm39)	splice site	probably null
R5114:Mzb1	UTSW	18	35,780,717 (GRCm39)	missense	probably benign	0.10
R6477:Mzb1	UTSW	18	35,781,311 (GRCm39)	critical splice donor site	probably null
R7218:Mzb1	UTSW	18	35,780,975 (GRCm39)	missense	probably benign
R7593:Mzb1	UTSW	18	35,780,901 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCCAGATTCGCTTGGCCTTG -3'
(R):5'- TGTCTGAGCTCAGCAAATGTCC -3'

Sequencing Primer
(F):5'- GTAGGCTTCATAGATCTGGTCCTC -3'
(R):5'- TGAGCTCAGCAAATGTCCAGTATAC -3'

Posted On

2019-12-20