Mutagenetix > Incidental Mutation

Incidental Mutation 'R7675:Serpinb9d'

592433

Institutional Source

Beutler Lab

Gene Symbol

Serpinb9d

Ensembl Gene

ENSMUSG00000054266

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 9d

Synonyms

AT2, ovalbumin, Spi9

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R7675 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33192959-33203129 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 33202776 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 276 (Q276*)

Ref Sequence

ENSEMBL: ENSMUSP00000067710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067198]

AlphaFold

Q8BMT0

Predicted Effect

probably null
Transcript: ENSMUST00000067198
AA Change: Q276*

SMART Domains

Protein: ENSMUSP00000067710
Gene: ENSMUSG00000054266
AA Change: Q276*

Domain	Start	End	E-Value	Type
SERPIN	13	377	1.79e-167	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (28/29)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010109A12Rik	T	C	5: 93,213,374	S96P	unknown	Het
5730559C18Rik	G	T	1: 136,216,003	A565E	probably benign	Het
Acaca	A	G	11: 84,315,916	E1534G	probably benign	Het
Adam7	A	T	14: 68,499,853	D773E	probably benign	Het
C130026I21Rik	C	T	1: 85,247,015	M266I	probably benign	Het
Cacna1s	T	A	1: 136,110,874	I1398N	probably damaging	Het
Calu	C	T	6: 29,356,517	T14I	probably benign	Het
Casp8	A	G	1: 58,823,947	D2G	possibly damaging	Het
Cldn1	T	C	16: 26,371,511	N39S	probably benign	Het
Clspn	T	C	4: 126,566,320	S447P	probably benign	Het
Eef2k	A	G	7: 120,858,504	T29A	probably benign	Het
Elmsan1	G	T	12: 84,173,800	P127T	probably damaging	Het
Fam205c	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823		probably benign	Het
Gm5519	G	C	19: 33,825,028	G157A	probably benign	Het
Gm9844	A	T	7: 24,862,359	T28S	probably benign	Het
Gucy2c	A	G	6: 136,716,032	V723A	possibly damaging	Het
Ighv1-69	A	T	12: 115,623,589	W3R	probably damaging	Het
Krtap16-1	A	G	11: 99,985,433	C382R	possibly damaging	Het
Lrrc8a	G	A	2: 30,255,668	D165N	probably damaging	Het
Naaladl2	T	A	3: 24,551,652	M148L	probably benign	Het
Nphp3	A	T	9: 104,016,088	E424D	probably benign	Het
Prpf40a	T	C	2: 53,145,636	K714R	possibly damaging	Het
Ptpn23	A	T	9: 110,387,026	L1254*	probably null	Het
Sap30l	A	G	11: 57,810,041	K174E	probably damaging	Het
Tex14	A	G	11: 87,509,678	D432G	probably damaging	Het
Unc119	G	A	11: 78,343,597	G11R	probably damaging	Het
Usp36	A	G	11: 118,263,696	V965A	probably benign	Het
Vmn2r4	A	T	3: 64,415,236	Y21N	probably benign	Het
Zbtb38	G	T	9: 96,685,541	D1163E	probably benign	Het
Zfp62	A	G	11: 49,216,020	I313V	possibly damaging	Het
Zfp980	C	T	4: 145,701,594	Q298*	probably null	Het

Other mutations in Serpinb9d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01516:Serpinb9d	APN	13	33202671	splice site	probably null
IGL01610:Serpinb9d	APN	13	33198002	missense	probably benign	0.12
IGL01702:Serpinb9d	APN	13	33203023	missense	probably damaging	1.00
IGL01833:Serpinb9d	APN	13	33200705	missense	probably damaging	1.00
IGL02029:Serpinb9d	APN	13	33196529	missense	possibly damaging	0.74
IGL03013:Serpinb9d	APN	13	33196538	missense	probably damaging	1.00
IGL03027:Serpinb9d	APN	13	33202715	nonsense	probably null
IGL03056:Serpinb9d	APN	13	33202753	missense	probably damaging	1.00
IGL03189:Serpinb9d	APN	13	33202912	missense	probably damaging	1.00
IGL03206:Serpinb9d	APN	13	33198031	missense	possibly damaging	0.61
R0217:Serpinb9d	UTSW	13	33198022	missense	possibly damaging	0.79
R0370:Serpinb9d	UTSW	13	33195966	missense	probably damaging	1.00
R1174:Serpinb9d	UTSW	13	33200625	missense	probably benign	0.23
R1175:Serpinb9d	UTSW	13	33200625	missense	probably benign	0.23
R1711:Serpinb9d	UTSW	13	33200748	missense	probably benign	0.03
R1716:Serpinb9d	UTSW	13	33196517	missense	probably damaging	1.00
R1874:Serpinb9d	UTSW	13	33197963	splice site	probably null
R2186:Serpinb9d	UTSW	13	33203047	missense	possibly damaging	0.82
R2497:Serpinb9d	UTSW	13	33196517	missense	probably damaging	1.00
R4198:Serpinb9d	UTSW	13	33202674	splice site	probably null
R4198:Serpinb9d	UTSW	13	33202965	missense	probably benign	0.01
R4199:Serpinb9d	UTSW	13	33202674	splice site	probably null
R4584:Serpinb9d	UTSW	13	33200616	missense	probably damaging	1.00
R4650:Serpinb9d	UTSW	13	33202853	missense	probably benign	0.00
R5573:Serpinb9d	UTSW	13	33196440	critical splice acceptor site	probably null
R5627:Serpinb9d	UTSW	13	33202693	missense	probably damaging	1.00
R6336:Serpinb9d	UTSW	13	33194694	missense	probably damaging	1.00
R6706:Serpinb9d	UTSW	13	33196558	missense	probably benign
R6948:Serpinb9d	UTSW	13	33200723	missense	possibly damaging	0.95
R7271:Serpinb9d	UTSW	13	33194634	missense	probably benign	0.43
R7336:Serpinb9d	UTSW	13	33200719	missense	probably benign	0.00
R7436:Serpinb9d	UTSW	13	33195933	missense	probably benign	0.35
R7874:Serpinb9d	UTSW	13	33202671	splice site	probably null
R9188:Serpinb9d	UTSW	13	33202860	missense	probably damaging	0.99
R9775:Serpinb9d	UTSW	13	33198024	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTGGCCATTTGAATAGGC -3'
(R):5'- CTGTATAGTTTTGCCAGCAGTG -3'

Sequencing Primer
(F):5'- GGCCATTTGAATAGGCAATTCCTG -3'
(R):5'- GTTGGACAGACACAGGTT -3'

Posted On

2019-11-12