Mutagenetix > Incidental Mutations

Incidental Mutation 'R7931:Serpina1d'

643607

Institutional Source

Beutler Lab

Gene Symbol

Serpina1d

Ensembl Gene

ENSMUSG00000071177

Gene Name

serine (or cysteine) peptidase inhibitor, clade A, member 1D

Synonyms

Spi1-4, PI4

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R7931 (G1)

Quality Score

999

Status

Not validated

Chromosome

Chromosomal Location

103763594-103773592 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103767556 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 163 (V163D)

Ref Sequence

ENSEMBL: ENSMUSP00000077909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078869] [ENSMUST00000164454]

Predicted Effect

probably damaging
Transcript: ENSMUST00000078869
AA Change: V163D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000077909
Gene: ENSMUSG00000071177
AA Change: V163D

Domain	Start	End	E-Value	Type
low complexity region	9	18	N/A	INTRINSIC
SERPIN	53	410	3.17e-200	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164454

SMART Domains

Protein: ENSMUSP00000127266
Gene: ENSMUSG00000071178

Domain	Start	End	E-Value	Type
SERPIN	53	410	7.62e-203	SMART

Coding Region Coverage

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

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp2	A	T	2: 91,206,715		probably null	Het
Aire	G	A	10: 78,030,296	A536V	probably damaging	Het
Aox4	A	G	1: 58,255,486	I951M	probably benign	Het
Ash1l	G	T	3: 89,043,541	C2190F	probably damaging	Het
C1s1	C	T	6: 124,533,400	V363M	probably damaging	Het
Col7a1	C	A	9: 108,980,522		probably benign	Het
Coq10b	A	G	1: 55,052,993		probably benign	Het
Diaph3	A	T	14: 87,115,020	D48E	possibly damaging	Het
Dnajc13	A	G	9: 104,218,564	V559A	probably benign	Het
Dzank1	T	C	2: 144,481,694	I610V	probably benign	Het
F7	A	G	8: 13,035,209	I412V	probably benign	Het
Flt1	A	G	5: 147,588,572	S919P	probably damaging	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,667,034		probably benign	Het
Gm13212	G	A	4: 145,622,556	D188N	possibly damaging	Het
Gria1	A	G	11: 57,310,525		probably benign	Het
Hoxa13	G	GCA	6: 52,260,637		probably null	Het
Igkv4-70	C	A	6: 69,267,991	R82L	probably damaging	Het
Lnp1	T	A	16: 56,927,918	R4*	probably null	Het
Lrrc3b	T	C	14: 15,358,018	N196S	probably benign	Het
Mlxip	A	G	5: 123,450,495	D816G	probably damaging	Het
Myh7	C	T	14: 54,983,662	E935K	possibly damaging	Het
Myom3	A	T	4: 135,789,636	H839L	probably benign	Het
Nebl	C	T	2: 17,376,622		probably null	Het
Ninj1	T	C	13: 49,193,956	I99T	probably damaging	Het
Nvl	C	T	1: 181,109,155		probably benign	Het
Olfr1249	T	A	2: 89,630,104	I265F	possibly damaging	Het
Olfr167	A	G	16: 19,515,508	S43P	possibly damaging	Het
Olfr738	A	C	14: 50,414,329	M262L	probably damaging	Het
Olfr972	A	T	9: 39,873,850	T192S	possibly damaging	Het
Otop1	A	G	5: 38,288,020	H174R	probably damaging	Het
Pcdhb16	A	G	18: 37,478,457	N157D	possibly damaging	Het
Prss44	A	C	9: 110,814,678	Q130P	probably damaging	Het
Ptprh	C	A	7: 4,571,988	S344I	probably benign	Het
Rps6kl1	T	C	12: 85,149,792	I33V	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Het
Scn1a	T	C	2: 66,317,812	S110G	probably damaging	Het
Sdk2	C	A	11: 113,893,441	K157N	possibly damaging	Het
Serpina3g	T	C	12: 104,239,169	S56P	probably benign	Het
Slc4a4	T	C	5: 89,170,781	L636P	probably benign	Het
Slc6a1	T	C	6: 114,311,902	F474S	probably benign	Het
Slco6d1	A	G	1: 98,428,416	D235G	probably damaging	Het
Srgn	A	T	10: 62,494,984	M114K	possibly damaging	Het
Syne3	A	T	12: 104,963,232	V243E	probably damaging	Het
Tbc1d5	T	C	17: 50,799,864		probably benign	Het
Tcf19	A	G	17: 35,514,907	F118L	probably damaging	Het
Tln2	A	T	9: 67,258,460		probably null	Het
Tnxb	A	G	17: 34,688,698	T1239A	probably damaging	Het
Traip	A	G	9: 107,971,042	I453M	probably benign	Het
Usp5	T	C	6: 124,824,446		probably benign	Het
Vmn1r157	C	T	7: 22,761,785	A30V	probably damaging	Het
Vmn1r233	G	A	17: 20,993,863	A275V	probably benign	Het
Vps13d	G	A	4: 145,096,284	R2976*	probably null	Het
Wdr75	T	C	1: 45,819,635	F655L	probably benign	Het
Wwp1	A	G	4: 19,650,114		probably null	Het
Zc3h4	T	C	7: 16,432,984	L747P	unknown	Het

Other mutations in Serpina1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Serpina1d	APN	12	103763734	missense	probably benign	0.00
IGL02175:Serpina1d	APN	12	103765696	splice site	probably null
IGL02336:Serpina1d	APN	12	103764796	nonsense	probably null
IGL03260:Serpina1d	APN	12	103763849	missense	probably damaging	0.98
BB008:Serpina1d	UTSW	12	103767556	missense	probably damaging	0.99
BB018:Serpina1d	UTSW	12	103767556	missense	probably damaging	0.99
R0119:Serpina1d	UTSW	12	103765757	missense	probably damaging	1.00
R0299:Serpina1d	UTSW	12	103765757	missense	probably damaging	1.00
R0348:Serpina1d	UTSW	12	103763775	missense	probably benign	0.05
R0499:Serpina1d	UTSW	12	103765757	missense	probably damaging	1.00
R1086:Serpina1d	UTSW	12	103763787	missense	probably benign
R1864:Serpina1d	UTSW	12	103767997	missense	probably benign	0.21
R1883:Serpina1d	UTSW	12	103765778	missense	possibly damaging	0.64
R1884:Serpina1d	UTSW	12	103765778	missense	possibly damaging	0.64
R3731:Serpina1d	UTSW	12	103767905	missense	possibly damaging	0.63
R3973:Serpina1d	UTSW	12	103767848	missense	probably benign	0.01
R3976:Serpina1d	UTSW	12	103767848	missense	probably benign	0.01
R4227:Serpina1d	UTSW	12	103767481	missense	probably benign	0.03
R4783:Serpina1d	UTSW	12	103767824	missense	possibly damaging	0.87
R5672:Serpina1d	UTSW	12	103763842	missense	possibly damaging	0.69
R5764:Serpina1d	UTSW	12	103765821	missense	probably benign	0.00
R6244:Serpina1d	UTSW	12	103764828	splice site	probably null
R6314:Serpina1d	UTSW	12	103764700	missense	probably benign	0.39
R6548:Serpina1d	UTSW	12	103767552	missense	probably damaging	1.00
R6554:Serpina1d	UTSW	12	103764803	missense	probably benign	0.09
R6953:Serpina1d	UTSW	12	103767730	missense	probably benign	0.00
R7106:Serpina1d	UTSW	12	103765721	missense	probably benign	0.01
R7390:Serpina1d	UTSW	12	103767778	missense	possibly damaging	0.86
R8085:Serpina1d	UTSW	12	103763828	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGCTCAGAAACTGGTTCTCAAG -3'
(R):5'- CACACAAACATCGGAGGCTG -3'

Sequencing Primer
(F):5'- CTCAAGAATATGTATGGGTGTCTCC -3'
(R):5'- GGAGGCTGACATCCACAAGTC -3'

Posted On

2020-08-07