Mutagenetix > Incidental Mutation

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

PI4, Spi1-4

MMRRC Submission

045978-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R7931 (G1)

Quality Score

999

Status

Not validated

Chromosome

Chromosomal Location

103729853-103739851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103733815 bp (GRCm39)

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]

AlphaFold

Q00897

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: 91,037,060 (GRCm39)		probably null	Het
Aire	G	A	10: 77,866,130 (GRCm39)	A536V	probably damaging	Het
Aox4	A	G	1: 58,294,645 (GRCm39)	I951M	probably benign	Het
Ash1l	G	T	3: 88,950,848 (GRCm39)	C2190F	probably damaging	Het
C1s1	C	T	6: 124,510,359 (GRCm39)	V363M	probably damaging	Het
Col7a1	C	A	9: 108,809,590 (GRCm39)		probably benign	Het
Coq10b	A	G	1: 55,092,152 (GRCm39)		probably benign	Het
Diaph3	A	T	14: 87,352,456 (GRCm39)	D48E	possibly damaging	Het
Dnajc13	A	G	9: 104,095,763 (GRCm39)	V559A	probably benign	Het
Dzank1	T	C	2: 144,323,614 (GRCm39)	I610V	probably benign	Het
F7	A	G	8: 13,085,209 (GRCm39)	I412V	probably benign	Het
Flt1	A	G	5: 147,525,382 (GRCm39)	S919P	probably damaging	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gria1	A	G	11: 57,201,351 (GRCm39)		probably benign	Het
Hoxa13	G	GCA	6: 52,237,620 (GRCm39)		probably null	Het
Igkv4-70	C	A	6: 69,244,975 (GRCm39)	R82L	probably damaging	Het
Lnp1	T	A	16: 56,748,281 (GRCm39)	R4*	probably null	Het
Lrrc3b	T	C	14: 15,358,018 (GRCm38)	N196S	probably benign	Het
Mlxip	A	G	5: 123,588,558 (GRCm39)	D816G	probably damaging	Het
Myh7	C	T	14: 55,221,119 (GRCm39)	E935K	possibly damaging	Het
Myom3	A	T	4: 135,516,947 (GRCm39)	H839L	probably benign	Het
Nebl	C	T	2: 17,381,433 (GRCm39)		probably null	Het
Ninj1	T	C	13: 49,347,432 (GRCm39)	I99T	probably damaging	Het
Nvl	C	T	1: 180,936,720 (GRCm39)		probably benign	Het
Or11g1	A	C	14: 50,651,786 (GRCm39)	M262L	probably damaging	Het
Or2l5	A	G	16: 19,334,258 (GRCm39)	S43P	possibly damaging	Het
Or4a76	T	A	2: 89,460,448 (GRCm39)	I265F	possibly damaging	Het
Or8g55	A	T	9: 39,785,146 (GRCm39)	T192S	possibly damaging	Het
Otop1	A	G	5: 38,445,364 (GRCm39)	H174R	probably damaging	Het
Pcdhb16	A	G	18: 37,611,510 (GRCm39)	N157D	possibly damaging	Het
Prss44	A	C	9: 110,643,746 (GRCm39)	Q130P	probably damaging	Het
Ptprh	C	A	7: 4,574,987 (GRCm39)	S344I	probably benign	Het
Rps6kl1	T	C	12: 85,196,566 (GRCm39)	I33V	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Scn1a	T	C	2: 66,148,156 (GRCm39)	S110G	probably damaging	Het
Sdk2	C	A	11: 113,784,267 (GRCm39)	K157N	possibly damaging	Het
Serpina3g	T	C	12: 104,205,428 (GRCm39)	S56P	probably benign	Het
Slc4a4	T	C	5: 89,318,640 (GRCm39)	L636P	probably benign	Het
Slc6a1	T	C	6: 114,288,863 (GRCm39)	F474S	probably benign	Het
Slco6d1	A	G	1: 98,356,141 (GRCm39)	D235G	probably damaging	Het
Srgn	A	T	10: 62,330,763 (GRCm39)	M114K	possibly damaging	Het
Syne3	A	T	12: 104,929,491 (GRCm39)	V243E	probably damaging	Het
Tbc1d5	T	C	17: 51,106,892 (GRCm39)		probably benign	Het
Tcf19	A	G	17: 35,825,804 (GRCm39)	F118L	probably damaging	Het
Tln2	A	T	9: 67,165,742 (GRCm39)		probably null	Het
Tnxb	A	G	17: 34,907,672 (GRCm39)	T1239A	probably damaging	Het
Traip	A	G	9: 107,848,241 (GRCm39)	I453M	probably benign	Het
Usp5	T	C	6: 124,801,409 (GRCm39)		probably benign	Het
Vmn1r157	C	T	7: 22,461,210 (GRCm39)	A30V	probably damaging	Het
Vmn1r233	G	A	17: 21,214,125 (GRCm39)	A275V	probably benign	Het
Vps13d	G	A	4: 144,822,854 (GRCm39)	R2976*	probably null	Het
Wdr75	T	C	1: 45,858,795 (GRCm39)	F655L	probably benign	Het
Wwp1	A	G	4: 19,650,114 (GRCm39)		probably null	Het
Zc3h4	T	C	7: 16,166,909 (GRCm39)	L747P	unknown	Het
Zfp268	G	A	4: 145,349,126 (GRCm39)	D188N	possibly damaging	Het

Other mutations in Serpina1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Serpina1d	APN	12	103,729,993 (GRCm39)	missense	probably benign	0.00
IGL02175:Serpina1d	APN	12	103,731,955 (GRCm39)	splice site	probably null
IGL02336:Serpina1d	APN	12	103,731,055 (GRCm39)	nonsense	probably null
IGL03260:Serpina1d	APN	12	103,730,108 (GRCm39)	missense	probably damaging	0.98
BB008:Serpina1d	UTSW	12	103,733,815 (GRCm39)	missense	probably damaging	0.99
BB018:Serpina1d	UTSW	12	103,733,815 (GRCm39)	missense	probably damaging	0.99
R0119:Serpina1d	UTSW	12	103,732,016 (GRCm39)	missense	probably damaging	1.00
R0299:Serpina1d	UTSW	12	103,732,016 (GRCm39)	missense	probably damaging	1.00
R0348:Serpina1d	UTSW	12	103,730,034 (GRCm39)	missense	probably benign	0.05
R0499:Serpina1d	UTSW	12	103,732,016 (GRCm39)	missense	probably damaging	1.00
R1086:Serpina1d	UTSW	12	103,730,046 (GRCm39)	missense	probably benign
R1864:Serpina1d	UTSW	12	103,734,256 (GRCm39)	missense	probably benign	0.21
R1883:Serpina1d	UTSW	12	103,732,037 (GRCm39)	missense	possibly damaging	0.64
R1884:Serpina1d	UTSW	12	103,732,037 (GRCm39)	missense	possibly damaging	0.64
R3731:Serpina1d	UTSW	12	103,734,164 (GRCm39)	missense	possibly damaging	0.63
R3973:Serpina1d	UTSW	12	103,734,107 (GRCm39)	missense	probably benign	0.01
R3976:Serpina1d	UTSW	12	103,734,107 (GRCm39)	missense	probably benign	0.01
R4227:Serpina1d	UTSW	12	103,733,740 (GRCm39)	missense	probably benign	0.03
R4783:Serpina1d	UTSW	12	103,734,083 (GRCm39)	missense	possibly damaging	0.87
R5672:Serpina1d	UTSW	12	103,730,101 (GRCm39)	missense	possibly damaging	0.69
R5764:Serpina1d	UTSW	12	103,732,080 (GRCm39)	missense	probably benign	0.00
R6244:Serpina1d	UTSW	12	103,731,087 (GRCm39)	splice site	probably null
R6314:Serpina1d	UTSW	12	103,730,959 (GRCm39)	missense	probably benign	0.39
R6548:Serpina1d	UTSW	12	103,733,811 (GRCm39)	missense	probably damaging	1.00
R6554:Serpina1d	UTSW	12	103,731,062 (GRCm39)	missense	probably benign	0.09
R6953:Serpina1d	UTSW	12	103,733,989 (GRCm39)	missense	probably benign	0.00
R7106:Serpina1d	UTSW	12	103,731,980 (GRCm39)	missense	probably benign	0.01
R7390:Serpina1d	UTSW	12	103,734,037 (GRCm39)	missense	possibly damaging	0.86
R8085:Serpina1d	UTSW	12	103,730,087 (GRCm39)	missense	probably damaging	1.00
R9294:Serpina1d	UTSW	12	103,734,257 (GRCm39)	missense	probably damaging	0.99
R9473:Serpina1d	UTSW	12	103,729,939 (GRCm39)	makesense	probably null
R9667:Serpina1d	UTSW	12	103,734,299 (GRCm39)	missense	probably benign

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