Mutagenetix > Incidental Mutation

Incidental Mutation 'R3973:Serpina1d'

312953

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

040841-MU

Accession Numbers

Essential gene?

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

Stock #

R3973 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103763594-103773592 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103767848 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 66 (S66T)

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: S66T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000077909
Gene: ENSMUSG00000071177
AA Change: S66T

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: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 147,945,031	I486T	probably damaging	Het
4921501E09Rik	A	T	17: 33,066,431	S466T	probably benign	Het
4933427D14Rik	T	C	11: 72,198,741	R106G	probably damaging	Het
Cfap54	A	G	10: 92,839,471	S2863P	possibly damaging	Het
Copa	T	A	1: 172,121,245	S1155T	probably benign	Het
Crot	T	C	5: 8,977,541	T264A	probably benign	Het
Ddx3y	G	A	Y: 1,267,170	A232V	probably damaging	Het
Dst	T	G	1: 34,011,898	V25G	probably benign	Het
Ehbp1	C	T	11: 22,137,867	A406T	probably benign	Het
Eml5	A	T	12: 98,802,465		probably benign	Het
Eps8	A	T	6: 137,509,155	M453K	probably benign	Het
Galnt3	T	C	2: 66,107,030	D112G	possibly damaging	Het
Glra4	C	T	X: 136,762,793	A336T	probably damaging	Het
Gmppb	A	G	9: 108,050,139	D95G	probably benign	Het
Gprc6a	T	C	10: 51,628,448	Y100C	possibly damaging	Het
Gpx6	C	A	13: 21,317,658	S150Y	probably damaging	Het
Hsd17b3	A	T	13: 64,059,486	V247D	probably damaging	Het
Htr7	T	C	19: 36,056,760	D165G	probably damaging	Het
Igha	T	C	12: 113,256,352		probably benign	Het
Igsf10	A	G	3: 59,331,924	C279R	probably damaging	Het
Irak4	A	G	15: 94,554,740	E182G	possibly damaging	Het
Lipo3	A	T	19: 33,558,323	V274E	probably damaging	Het
Lrpprc	A	C	17: 84,770,841		probably null	Het
Mast1	T	C	8: 84,918,764	Y684C	probably damaging	Het
Mdn1	T	C	4: 32,722,363	F2382L	probably benign	Het
Mepe	C	T	5: 104,337,078	P28L	probably benign	Het
Mrgpra3	T	A	7: 47,589,666	I171F	probably benign	Het
Muc2	T	A	7: 141,746,804		probably benign	Het
Myh3	C	T	11: 67,096,436	Q1371*	probably null	Het
Nodal	T	A	10: 61,423,054	V90E	probably benign	Het
Npas4	A	T	19: 4,986,551	H528Q	probably benign	Het
Nt5dc3	T	C	10: 86,824,236	V382A	probably damaging	Het
Pcdh18	G	A	3: 49,754,586	T293I	probably damaging	Het
Phf20l1	A	G	15: 66,641,816	D947G	probably damaging	Het
Pla2r1	A	G	2: 60,448,962	V758A	probably benign	Het
Plod2	G	T	9: 92,598,619	G422*	probably null	Het
Ppp1r12a	T	C	10: 108,253,480	V660A	probably benign	Het
Prdm6	T	C	18: 53,540,206	I186T	possibly damaging	Het
Prkd3	G	A	17: 78,959,141		probably benign	Het
Prrc2a	A	G	17: 35,157,932	L734P	probably damaging	Het
Rnf128	C	A	X: 139,664,522	L282I	probably damaging	Het
Rnf213	A	G	11: 119,469,053	N4424S		Het
Scrn3	T	C	2: 73,335,777	S385P	possibly damaging	Het
Setd3	T	C	12: 108,165,158	K3R	possibly damaging	Het
Slc2a7	A	G	4: 150,158,210		probably null	Het
Smad4	G	T	18: 73,677,736	T59K	possibly damaging	Het
Spc25	A	G	2: 69,202,601	L60P	probably damaging	Het
Stam	A	C	2: 14,138,961	H354P	probably damaging	Het
Tesk1	C	T	4: 43,445,786	P280S	possibly damaging	Het
Tmem120a	C	G	5: 135,736,277	R254P	probably benign	Het
Traf5	T	C	1: 191,997,876	T405A	probably benign	Het
Trav7-4	A	G	14: 53,461,662	S89G	probably benign	Het
Tsc22d1	T	C	14: 76,418,609	S761P	probably damaging	Het
Ugt1a10	C	A	1: 88,216,140	H361N	probably damaging	Het
Ugt2b1	C	A	5: 86,917,675	V502L	probably benign	Het
Vip	T	A	10: 5,642,590	S77T	possibly damaging	Het
Wdr72	A	T	9: 74,218,697	M1025L	probably benign	Het
Zfp541	A	G	7: 16,072,222	D94G	probably damaging	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
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
R7931:Serpina1d	UTSW	12	103767556	missense	probably damaging	0.99
R8085:Serpina1d	UTSW	12	103763828	missense	probably damaging	1.00
R9294:Serpina1d	UTSW	12	103767998	missense	probably damaging	0.99
R9473:Serpina1d	UTSW	12	103763680	makesense	probably null
R9667:Serpina1d	UTSW	12	103768040	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGTTGACAAAGAGGCCATTGC -3'
(R):5'- CTCATGGAGTCTGCTGCTTC -3'

Sequencing Primer
(F):5'- GCAGCTCACTGTCTGGTCTG -3'
(R):5'- CTTCTGGCAGGCCTGTG -3'

Posted On

2015-04-30