Mutagenetix > Incidental Mutations

Incidental Mutation 'R6548:Serpina1d'

521395

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: 0.078) question?

Stock #

R6548 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103763594-103773592 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 103767552 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 164 (N164K)

Ref Sequence

ENSEMBL: ENSMUSP00000077909 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000078869
AA Change: N164K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077909
Gene: ENSMUSG00000071177
AA Change: N164K

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: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

93% (38/41)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	T	C	10: 43,174,773	L21P	probably damaging	Het
Ank3	C	T	10: 69,892,410	A642V	probably damaging	Het
Bap1	A	G	14: 31,256,225	N349S	probably benign	Het
Brca1	G	T	11: 101,524,765	Q32K	probably damaging	Het
Ccdc39	A	T	3: 33,837,959	N121K	probably benign	Het
Champ1	A	T	8: 13,880,002	N720I	probably damaging	Het
Chd3	T	A	11: 69,362,060	R216*	probably null	Het
D630003M21Rik	A	G	2: 158,205,699		probably null	Het
Exoc2	A	T	13: 30,826,064	V804E	possibly damaging	Het
Fcgbp	A	G	7: 28,091,918	N868S	probably benign	Het
Gm10376	T	C	14: 43,015,568	M1V	probably null	Het
Gpc2	G	A	5: 138,277,271		probably null	Het
Gpr37	G	A	6: 25,688,813	T95I	probably benign	Het
Ints3	G	A	3: 90,392,124		probably benign	Het
Krt28	T	C	11: 99,367,013	E334G	probably damaging	Het
Lrrc75a	T	A	11: 62,606,095	T214S	probably damaging	Het
Lyar	A	G	5: 38,227,858	I81V	probably benign	Het
Mon2	A	T	10: 123,036,093	L342Q	probably damaging	Het
Mug2	C	T	6: 122,047,442	A491V	probably damaging	Het
Myh2	A	G	11: 67,186,612	T858A	probably benign	Het
Net1	C	T	13: 3,886,074		probably null	Het
Olfr502	T	C	7: 108,523,216	T245A	probably benign	Het
Olfr593	T	A	7: 103,211,904	Y4N	probably benign	Het
Platr25	A	T	13: 62,673,809	I110N	possibly damaging	Het
Plk5	T	A	10: 80,363,045	L412H	probably damaging	Het
Rasal1	A	T	5: 120,674,725	T605S	probably benign	Het
Ryr2	T	A	13: 11,668,821	D3119V	probably damaging	Het
Serpina1a	G	T	12: 103,853,758	H387N	probably benign	Het
Smurf1	A	G	5: 144,899,497	Y69H	probably damaging	Het
Sod2	A	G	17: 13,008,363	K68R	probably benign	Het
Ssbp2	A	G	13: 91,539,351	N51S	possibly damaging	Het
Tcl1b1	A	G	12: 105,164,404	R49G	probably benign	Het
Tgfb1	A	G	7: 25,696,925	I214M	probably benign	Het
Tln1	A	G	4: 43,547,525	I812T	probably damaging	Het
Topaz1	T	A	9: 122,748,354	C110S	possibly damaging	Het
Ubap2l	A	G	3: 90,023,560	F393L	probably damaging	Het
Vmn1r62	G	A	7: 5,675,770	G150D	probably damaging	Het
Wdr24	C	A	17: 25,827,925	Q651K	probably damaging	Het
Wdr7	A	G	18: 63,778,251	T905A	possibly damaging	Het
Zfyve26	A	G	12: 79,238,335	F2382S	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCATGAGAGCTCAGAAACTG -3'
(R):5'- AAACATCGGAGGCTGACATC -3'

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

Posted On

2018-06-06