Mutagenetix > Incidental Mutation

Incidental Mutation 'R9775:Serpinb9d'

733655

Institutional Source

Beutler Lab

Gene Symbol

Serpinb9d

Ensembl Gene

ENSMUSG00000054266

Gene Name

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

Synonyms

Spi9, AT2, ovalbumin

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R9775 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33376942-33387112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33382007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 159 (R159W)

Ref Sequence

ENSEMBL: ENSMUSP00000067710 (fasta)

Gene Model

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

AlphaFold

Q8BMT0

Predicted Effect

probably damaging
Transcript: ENSMUST00000067198
AA Change: R159W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067710
Gene: ENSMUSG00000054266
AA Change: R159W

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	T	G	5: 113,861,765 (GRCm39)	Q35P	unknown	Het
Angptl2	G	A	2: 33,118,230 (GRCm39)	M1I	probably null	Het
Bptf	T	C	11: 106,934,502 (GRCm39)	E223G	probably benign	Het
C2cd3	T	A	7: 100,076,458 (GRCm39)	I805N		Het
Cep152	G	A	2: 125,423,660 (GRCm39)	Q914*	probably null	Het
Clasp2	A	G	9: 113,725,740 (GRCm39)	T794A	probably benign	Het
Cntnap2	A	G	6: 47,026,261 (GRCm39)	Y970C	probably damaging	Het
Ddx11	G	T	17: 66,445,157 (GRCm39)	V360L	probably damaging	Het
Fer1l6	G	A	15: 58,497,098 (GRCm39)	V1223I	probably benign	Het
Fez2	A	T	17: 78,708,183 (GRCm39)	I255N	probably damaging	Het
Gata3	A	G	2: 9,863,197 (GRCm39)	V439A	possibly damaging	Het
Il23a	G	C	10: 128,132,829 (GRCm39)	R143G	probably benign	Het
Kcnj9	T	A	1: 172,153,741 (GRCm39)	I128F	probably damaging	Het
Klhdc2	A	G	12: 69,350,393 (GRCm39)	D146G	probably damaging	Het
Klra6	T	A	6: 129,999,639 (GRCm39)	R110W	probably damaging	Het
Ldha	A	T	7: 46,491,047 (GRCm39)		probably benign	Het
Lingo2	C	A	4: 35,708,781 (GRCm39)	A400S	probably benign	Het
Lrrd1	A	T	5: 3,899,897 (GRCm39)	R67S	probably benign	Het
Mapk6	C	T	9: 75,295,668 (GRCm39)	C610Y	possibly damaging	Het
Mia3	G	A	1: 183,109,125 (GRCm39)	R656*	probably null	Het
Myoz2	T	C	3: 122,807,399 (GRCm39)	E137G	probably damaging	Het
Nemp2	T	A	1: 52,680,064 (GRCm39)	I96N	probably damaging	Het
Npy1r	A	G	8: 67,157,742 (GRCm39)	M351V	possibly damaging	Het
Nsg2	G	A	11: 32,005,029 (GRCm39)	S77N	possibly damaging	Het
Or10ag53	A	G	2: 87,082,568 (GRCm39)	M96V	probably damaging	Het
Or5ac17	T	A	16: 59,036,069 (GRCm39)	R302S	possibly damaging	Het
Or6c5c	T	C	10: 129,298,677 (GRCm39)	I44T	probably benign	Het
Osbpl9	G	A	4: 109,013,747 (GRCm39)		probably benign	Het
Pcolce2	G	A	9: 95,520,797 (GRCm39)	C58Y	probably damaging	Het
Piezo1	A	G	8: 123,208,927 (GRCm39)	F2480L	probably damaging	Het
Pip5k1c	T	A	10: 81,147,853 (GRCm39)	D419E	probably damaging	Het
Plppr1	A	T	4: 49,323,435 (GRCm39)	T242S	probably benign	Het
Ppp1r13b	A	C	12: 111,803,457 (GRCm39)	S254A	possibly damaging	Het
Pramel17	A	G	4: 101,694,244 (GRCm39)	M213T	probably benign	Het
Ripk3	A	G	14: 56,023,252 (GRCm39)	L151S	unknown	Het
Scmh1	A	T	4: 120,340,820 (GRCm39)	M169L	probably benign	Het
Slc26a9	A	G	1: 131,690,970 (GRCm39)	R583G	possibly damaging	Het
Smim8	T	C	4: 34,769,068 (GRCm39)	E72G	probably damaging	Het
Sned1	A	G	1: 93,199,604 (GRCm39)	N511S	probably damaging	Het
Srprb	A	C	9: 103,078,490 (GRCm39)	V80G	probably benign	Het
Ssx2ip	G	A	3: 146,136,808 (GRCm39)	S352N	probably benign	Het
Tbccd1	A	G	16: 22,652,666 (GRCm39)	S152P	probably damaging	Het
Tenm4	T	C	7: 96,555,761 (GRCm39)	I2822T	possibly damaging	Het
Tff1	A	G	17: 31,383,972 (GRCm39)	V8A	probably benign	Het
Tmem132b	T	A	5: 125,864,566 (GRCm39)	S891T	probably benign	Het
Tmem200c	T	A	17: 69,149,118 (GRCm39)	V567D	probably damaging	Het
Trim3	G	A	7: 105,260,377 (GRCm39)	T708M	probably damaging	Het
Ttn	T	C	2: 76,544,927 (GRCm39)	N32725S	possibly damaging	Het
Ubash3b	T	G	9: 40,926,214 (GRCm39)	E633A	possibly damaging	Het
Usp4	A	G	9: 108,239,780 (GRCm39)	R170G	probably damaging	Het
Wdr33	T	A	18: 32,037,406 (GRCm39)	L1222Q	unknown	Het
Zfhx2	A	G	14: 55,304,562 (GRCm39)	S1141P	probably benign	Het

Other mutations in Serpinb9d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01516:Serpinb9d	APN	13	33,386,654 (GRCm39)	splice site	probably null
IGL01610:Serpinb9d	APN	13	33,381,985 (GRCm39)	missense	probably benign	0.12
IGL01702:Serpinb9d	APN	13	33,387,006 (GRCm39)	missense	probably damaging	1.00
IGL01833:Serpinb9d	APN	13	33,384,688 (GRCm39)	missense	probably damaging	1.00
IGL02029:Serpinb9d	APN	13	33,380,512 (GRCm39)	missense	possibly damaging	0.74
IGL03013:Serpinb9d	APN	13	33,380,521 (GRCm39)	missense	probably damaging	1.00
IGL03027:Serpinb9d	APN	13	33,386,698 (GRCm39)	nonsense	probably null
IGL03056:Serpinb9d	APN	13	33,386,736 (GRCm39)	missense	probably damaging	1.00
IGL03189:Serpinb9d	APN	13	33,386,895 (GRCm39)	missense	probably damaging	1.00
IGL03206:Serpinb9d	APN	13	33,382,014 (GRCm39)	missense	possibly damaging	0.61
R0217:Serpinb9d	UTSW	13	33,382,005 (GRCm39)	missense	possibly damaging	0.79
R0370:Serpinb9d	UTSW	13	33,379,949 (GRCm39)	missense	probably damaging	1.00
R1174:Serpinb9d	UTSW	13	33,384,608 (GRCm39)	missense	probably benign	0.23
R1175:Serpinb9d	UTSW	13	33,384,608 (GRCm39)	missense	probably benign	0.23
R1711:Serpinb9d	UTSW	13	33,384,731 (GRCm39)	missense	probably benign	0.03
R1716:Serpinb9d	UTSW	13	33,380,500 (GRCm39)	missense	probably damaging	1.00
R1874:Serpinb9d	UTSW	13	33,381,946 (GRCm39)	splice site	probably null
R2186:Serpinb9d	UTSW	13	33,387,030 (GRCm39)	missense	possibly damaging	0.82
R2497:Serpinb9d	UTSW	13	33,380,500 (GRCm39)	missense	probably damaging	1.00
R4198:Serpinb9d	UTSW	13	33,386,948 (GRCm39)	missense	probably benign	0.01
R4198:Serpinb9d	UTSW	13	33,386,657 (GRCm39)	splice site	probably null
R4199:Serpinb9d	UTSW	13	33,386,657 (GRCm39)	splice site	probably null
R4584:Serpinb9d	UTSW	13	33,384,599 (GRCm39)	missense	probably damaging	1.00
R4650:Serpinb9d	UTSW	13	33,386,836 (GRCm39)	missense	probably benign	0.00
R5573:Serpinb9d	UTSW	13	33,380,423 (GRCm39)	critical splice acceptor site	probably null
R5627:Serpinb9d	UTSW	13	33,386,676 (GRCm39)	missense	probably damaging	1.00
R6336:Serpinb9d	UTSW	13	33,378,677 (GRCm39)	missense	probably damaging	1.00
R6706:Serpinb9d	UTSW	13	33,380,541 (GRCm39)	missense	probably benign
R6948:Serpinb9d	UTSW	13	33,384,706 (GRCm39)	missense	possibly damaging	0.95
R7271:Serpinb9d	UTSW	13	33,378,617 (GRCm39)	missense	probably benign	0.43
R7336:Serpinb9d	UTSW	13	33,384,702 (GRCm39)	missense	probably benign	0.00
R7436:Serpinb9d	UTSW	13	33,379,916 (GRCm39)	missense	probably benign	0.35
R7675:Serpinb9d	UTSW	13	33,386,759 (GRCm39)	nonsense	probably null
R7874:Serpinb9d	UTSW	13	33,386,654 (GRCm39)	splice site	probably null
R9188:Serpinb9d	UTSW	13	33,386,843 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACATGGCTGCTAGTGTTTCG -3'
(R):5'- TTAGGCTGGAGATCAAGGCC -3'

Sequencing Primer
(F):5'- GTACAAGTGATACTTTGATCTGCTC -3'
(R):5'- CTGGAGATCAAGGCCAGCAC -3'

Posted On

2022-11-14