Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01410:Serpina1d'

79949

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpina1d

Ensembl Gene

ENSMUSG00000071177

Gene Name

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

Synonyms

PI4, Spi1-4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL01410

Quality Score

Status

Chromosome

Chromosomal Location

103729853-103739851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103729993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 396 (E396D)

Ref Sequence

ENSEMBL: ENSMUSP00000077909 (fasta)

Gene Model

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

AlphaFold

Q00897

Predicted Effect

probably benign
Transcript: ENSMUST00000078869
AA Change: E396D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000077909
Gene: ENSMUSG00000071177
AA Change: E396D

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	T	A	1: 58,145,184 (GRCm39)		probably null	Het
Aspm	C	T	1: 139,410,182 (GRCm39)	T1359I	probably benign	Het
Atp13a2	A	G	4: 140,719,509 (GRCm39)	D26G	probably benign	Het
Atrnl1	G	A	19: 58,119,536 (GRCm39)	A1343T	probably damaging	Het
Ccsap	A	C	8: 124,585,969 (GRCm39)	S61A	probably damaging	Het
Cdh1	A	T	8: 107,384,485 (GRCm39)	M318L	probably benign	Het
Cfap69	G	A	5: 5,696,979 (GRCm39)	P106S	probably damaging	Het
Cfp	G	A	X: 20,795,963 (GRCm39)	T88I	probably damaging	Het
Chst1	A	T	2: 92,444,475 (GRCm39)	I316F	probably damaging	Het
Col7a1	A	T	9: 108,793,686 (GRCm39)	D1382V	unknown	Het
Cr2	T	A	1: 194,845,542 (GRCm39)	M514L	possibly damaging	Het
Cubn	G	A	2: 13,470,719 (GRCm39)	H558Y	probably benign	Het
Cul9	A	T	17: 46,839,572 (GRCm39)	M802K	probably damaging	Het
Dennd2d	A	T	3: 106,398,542 (GRCm39)	I169L	probably damaging	Het
Dnah11	T	A	12: 118,010,991 (GRCm39)	K162*	probably null	Het
Dnah3	T	A	7: 119,566,943 (GRCm39)	T2428S	possibly damaging	Het
Dock11	T	A	X: 35,301,296 (GRCm39)	H1284Q	probably damaging	Het
Flrt2	T	A	12: 95,745,966 (GRCm39)	D101E	probably damaging	Het
Gabrr2	G	A	4: 33,085,626 (GRCm39)	V349M	probably damaging	Het
Gli2	C	A	1: 118,764,621 (GRCm39)	V1177L	probably benign	Het
Gm16506	A	G	14: 43,961,630 (GRCm39)	Y206H	probably benign	Het
Gm5612	C	T	9: 18,338,869 (GRCm39)		probably benign	Het
Gvin3	C	T	7: 106,202,258 (GRCm39)		noncoding transcript	Het
Heg1	C	T	16: 33,545,936 (GRCm39)	T460I	possibly damaging	Het
Lgals9	T	G	11: 78,863,977 (GRCm39)	D56A	probably damaging	Het
Lpgat1	A	T	1: 191,508,544 (GRCm39)		probably null	Het
Megf6	T	A	4: 154,337,020 (GRCm39)		probably null	Het
Megf8	G	A	7: 25,059,296 (GRCm39)	M2265I	probably benign	Het
Memo1	G	A	17: 74,548,976 (GRCm39)	R121*	probably null	Het
Morc1	T	C	16: 48,432,677 (GRCm39)	V715A	probably benign	Het
Mycbp2	A	T	14: 103,466,928 (GRCm39)		probably null	Het
Ncapg2	T	A	12: 116,388,270 (GRCm39)	V318D	possibly damaging	Het
Ndst1	T	C	18: 60,833,517 (GRCm39)	Y498C	probably damaging	Het
Nod1	C	T	6: 54,921,341 (GRCm39)	A326T	probably damaging	Het
Or2ag15	A	G	7: 106,340,706 (GRCm39)	V145A	probably benign	Het
Or4c11	T	A	2: 88,695,864 (GRCm39)	M305K	probably benign	Het
Peg3	T	C	7: 6,710,624 (GRCm39)	S1533G	probably benign	Het
Pgc	G	T	17: 48,045,165 (GRCm39)	G361V	probably damaging	Het
Phka1	C	T	X: 101,629,712 (GRCm39)	R477H	probably damaging	Het
Plagl2	C	T	2: 153,074,574 (GRCm39)	R109Q	probably damaging	Het
Prr36	T	A	8: 4,266,230 (GRCm39)	I107F	probably benign	Het
Ptpdc1	T	A	13: 48,740,080 (GRCm39)	R450S	probably damaging	Het
Ptprb	A	T	10: 116,138,179 (GRCm39)	D361V	possibly damaging	Het
Rbm44	A	G	1: 91,096,551 (GRCm39)	D970G	probably benign	Het
Scrn2	T	G	11: 96,921,396 (GRCm39)	V52G	probably benign	Het
Sdk1	C	T	5: 142,197,875 (GRCm39)	T2176I	probably benign	Het
Slc38a5	A	C	X: 8,146,070 (GRCm39)	Q465P	probably benign	Het
Slc38a5	G	T	X: 8,146,071 (GRCm39)	Q465H	probably benign	Het
Smarca1	T	C	X: 46,981,255 (GRCm39)	T48A	possibly damaging	Het
Trak2	A	T	1: 58,962,766 (GRCm39)	I132N	probably damaging	Het
Trank1	A	G	9: 111,194,117 (GRCm39)	T714A	probably benign	Het
Trank1	T	C	9: 111,194,327 (GRCm39)	S784P	probably benign	Het
Trp53i13	G	A	11: 77,399,083 (GRCm39)		probably benign	Het
Trrap	A	C	5: 144,767,831 (GRCm39)	D2596A	probably benign	Het
Ttyh1	A	T	7: 4,127,656 (GRCm39)	T19S	probably damaging	Het
Tyk2	C	T	9: 21,020,660 (GRCm39)	V947M	probably damaging	Het
Ugt2b34	G	A	5: 87,040,689 (GRCm39)	A411V	possibly damaging	Het
Virma	T	A	4: 11,518,929 (GRCm39)	Y725*	probably null	Het
Vmn1r192	A	G	13: 22,372,079 (GRCm39)	L47P	probably damaging	Het
Vmn2r74	T	C	7: 85,610,500 (GRCm39)	D64G	possibly damaging	Het

Other mutations in Serpina1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7931:Serpina1d	UTSW	12	103,733,815 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2013-11-05