Mutagenetix > Incidental Mutations

Incidental Mutation 'R8165:Spic'

633732

Institutional Source

Beutler Lab

Gene Symbol

Spic

Ensembl Gene

ENSMUSG00000004359

Gene Name

Spi-C transcription factor (Spi-1/PU.1 related)

Synonyms

Spi-C, C76795, Prf

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.543) question?

Stock #

R8165 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88674772-88685015 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88677566 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 86 (S86T)

Ref Sequence

ENSEMBL: ENSMUSP00000004473 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004473] [ENSMUST00000133724] [ENSMUST00000138734]

Predicted Effect

probably damaging
Transcript: ENSMUST00000004473
AA Change: S86T

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000004473
Gene: ENSMUSG00000004359
AA Change: S86T

Domain	Start	End	E-Value	Type
ETS	111	199	6.67e-32	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000133724
AA Change: S86T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000138734
AA Change: S86T

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118799
Gene: ENSMUSG00000004359
AA Change: S86T

Domain	Start	End	E-Value	Type
ETS	111	167	1.14e-5	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene regulates the development of red pulp macrophages, which are necessary for iron homeostasis and the recycling of red blood cells. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygote null mice have prenatal lethality with incomplete penetrance, absent red pulp macrophages, decreased phagocytosis of senescent red blood cell, and enlargement of spleens with age due to an increase in splenic iron levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	A	5: 63,897,946		probably null	Het
1110037F02Rik	T	A	4: 11,542,128	D1521E	probably benign	Het
Amph	A	G	13: 19,094,837	K161E	probably benign	Het
Aox2	A	T	1: 58,308,929	H602L	probably benign	Het
Areg	A	G	5: 91,143,633	N145S	probably damaging	Het
Arhgap29	C	T	3: 121,988,573	T142I	probably damaging	Het
Bcar3	C	T	3: 122,511,156		probably benign	Het
Brpf3	C	T	17: 28,806,274	A107V	probably benign	Het
Btnl2	T	A	17: 34,368,708	S509T	possibly damaging	Het
Cacna2d2	A	G	9: 107,525,454		probably null	Het
Casz1	C	T	4: 148,944,431	P1111L	probably damaging	Het
Ccdc91	C	T	6: 147,631,588	T411I	unknown	Het
Chd9	A	C	8: 91,041,141	E2422A	probably damaging	Het
Clrn3	T	C	7: 135,528,404	I34V	probably benign	Het
Cnksr3	C	T	10: 7,154,467	D79N	probably damaging	Het
Cops8	A	G	1: 90,612,007		probably null	Het
Cpa2	A	G	6: 30,564,346	K392R	probably benign	Het
Dnajc28	G	A	16: 91,616,907	R150*	probably null	Het
Dnase1l3	T	C	14: 7,994,299		probably benign	Het
Fam65a	C	A	8: 105,620,888	L1028M	unknown	Het
Gdpd5	A	T	7: 99,456,482	T502S	probably benign	Het
Gp2	A	T	7: 119,450,152	D387E	probably damaging	Het
Gpr179	A	G	11: 97,351,538	L160P	probably benign	Het
Hmcn1	G	A	1: 150,646,658	T3497M	probably benign	Het
Idh3b	T	A	2: 130,280,500	T322S	possibly damaging	Het
Kit	A	T	5: 75,620,880	N323I	possibly damaging	Het
Kng2	T	C	16: 22,987,496	S445G	unknown	Het
Lin54	A	G	5: 100,454,499	V393A	probably benign	Het
Lyst	T	A	13: 13,698,360	W2715R	probably damaging	Het
Mad1l1	T	C	5: 140,315,058	T28A	probably benign	Het
Med7	T	A	11: 46,441,246	C223S	probably benign	Het
Megf8	T	A	7: 25,353,873	L1823Q	probably damaging	Het
Mga	C	A	2: 119,947,238	Q1755K	probably benign	Het
Mgat4b	A	T	11: 50,210,974	N22I	probably benign	Het
Ndufb6	C	T	4: 40,270,665		probably null	Het
Neil3	A	G	8: 53,589,094	L490P	probably benign	Het
Nek9	C	T	12: 85,303,643	V886I	probably benign	Het
Nol4l	A	T	2: 153,420,553	Y366*	probably null	Het
Nt5dc2	A	G	14: 31,138,929	T354A	probably damaging	Het
Olfr339	T	A	2: 36,421,703	Y102N	probably damaging	Het
Pde2a	G	A	7: 101,500,448		probably null	Het
Phf1	T	C	17: 26,937,070	F444L	possibly damaging	Het
Plin4	G	A	17: 56,107,019	T202I	possibly damaging	Het
Plk4	G	C	3: 40,813,574	V851L	probably damaging	Het
Pp2d1	A	G	17: 53,515,229	S270P	probably damaging	Het
Scn9a	A	G	2: 66,540,530	F569L	probably damaging	Het
Sel1l2	T	A	2: 140,262,706	L306F	probably damaging	Het
Stkld1	A	G	2: 26,946,656	N278S	probably benign	Het
Taar7d	T	A	10: 24,027,597	F126I	probably benign	Het
Tbc1d31	A	G	15: 57,960,949	E869G	possibly damaging	Het
Tbcd	C	T	11: 121,493,885	T315M	probably benign	Het
Terf2	T	C	8: 107,083,024	K221E	possibly damaging	Het
Tex43	T	A	18: 56,589,475		probably benign	Het
Thsd7a	T	A	6: 12,468,963	T539S		Het
Tll2	A	G	19: 41,088,874	F818L	possibly damaging	Het
Tmem87a	T	C	2: 120,370,478	T427A	possibly damaging	Het
Ush2a	C	A	1: 188,451,755	Q1419K	possibly damaging	Het
Vill	T	A	9: 119,066,753	F511Y	probably damaging	Het
Vps13c	A	G	9: 67,858,790	D63G	probably benign	Het
Vrk2	A	G	11: 26,535,575	F138L	probably benign	Het
Zfp710	T	C	7: 80,086,027	I514T	probably damaging	Het
Zgrf1	T	A	3: 127,563,383	F753I	possibly damaging	Het

Other mutations in Spic

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Spic	APN	10	88675867	missense	probably damaging	1.00
IGL01503:Spic	APN	10	88675761	missense	probably damaging	0.96
IGL01611:Spic	APN	10	88676002	missense	possibly damaging	0.69
IGL01792:Spic	APN	10	88679945	missense	possibly damaging	0.85
R0047:Spic	UTSW	10	88675941	missense	probably damaging	1.00
R0047:Spic	UTSW	10	88675941	missense	probably damaging	1.00
R0126:Spic	UTSW	10	88676062	missense	probably damaging	1.00
R0166:Spic	UTSW	10	88675717	missense	possibly damaging	0.84
R0585:Spic	UTSW	10	88676043	missense	probably damaging	1.00
R4066:Spic	UTSW	10	88675683	missense	possibly damaging	0.63
R4067:Spic	UTSW	10	88675683	missense	possibly damaging	0.63
R4436:Spic	UTSW	10	88676955	missense	probably benign	0.03
R4748:Spic	UTSW	10	88675890	missense	probably damaging	1.00
R5001:Spic	UTSW	10	88675899	missense	possibly damaging	0.61
R8247:Spic	UTSW	10	88676061	missense	probably damaging	1.00
R8411:Spic	UTSW	10	88678636	missense	possibly damaging	0.74
W0251:Spic	UTSW	10	88679904	missense	probably damaging	0.97
X0018:Spic	UTSW	10	88678565	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- GCAGTCATTTCTACTGGCTGC -3'
(R):5'- AGAGAAGCCAAACTTTAGCCTC -3'

Sequencing Primer
(F):5'- AAACACCCTTGGAGTGGTTC -3'
(R):5'- GCCAAACTTTAGCCTCTACCC -3'

Posted On

2020-07-13