Mutagenetix > Incidental Mutation

Incidental Mutation 'R4067:Spic'

316175

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

040853-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.638) question?

Stock #

R4067 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88511131-88518885 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88511545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 237 (H237R)

Ref Sequence

ENSEMBL: ENSMUSP00000004473 (fasta)

Gene Model

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

AlphaFold

Q6P3D7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004473
AA Change: H237R

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000004473
Gene: ENSMUSG00000004359
AA Change: H237R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000133724

Predicted Effect

probably benign
Transcript: ENSMUST00000138734

SMART Domains

Protein: ENSMUSP00000118799
Gene: ENSMUSG00000004359

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220161

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

98% (61/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	T	A	1: 151,769,150 (GRCm39)	T121S	possibly damaging	Het
4930503E14Rik	T	C	14: 44,406,641 (GRCm39)	E136G	probably damaging	Het
Adgrg4	A	G	X: 56,005,320 (GRCm39)	N2527S	probably damaging	Het
Ak1	G	A	2: 32,519,593 (GRCm39)	S7N	probably benign	Het
Aktip	A	C	8: 91,852,466 (GRCm39)	I230R	possibly damaging	Het
Alms1	A	G	6: 85,598,271 (GRCm39)	I1032M	probably damaging	Het
Asb4	T	A	6: 5,423,651 (GRCm39)	V266E	probably damaging	Het
Bace1	G	A	9: 45,765,962 (GRCm39)	V130M	probably damaging	Het
Bglap	A	T	3: 88,291,744 (GRCm39)		probably benign	Het
Brpf3	T	C	17: 29,040,233 (GRCm39)	S885P	probably benign	Het
Chd9	A	T	8: 91,750,202 (GRCm39)	I1742F	possibly damaging	Het
Col9a2	T	A	4: 120,909,586 (GRCm39)	I415N	probably damaging	Het
Cybc1	A	T	11: 121,115,528 (GRCm39)		probably null	Het
Dnajc7	T	C	11: 100,492,607 (GRCm39)	Y38C	probably benign	Het
Dync2i2	A	G	2: 29,922,820 (GRCm39)	L309P	probably benign	Het
Enam	A	G	5: 88,651,236 (GRCm39)	Y840C	probably damaging	Het
Etnppl	T	A	3: 130,425,442 (GRCm39)	C416S	probably damaging	Het
Fgf20	A	T	8: 40,732,896 (GRCm39)	S181T	probably benign	Het
Fut8	T	A	12: 77,510,835 (GRCm39)	Y421N	probably damaging	Het
Gcn1	T	G	5: 115,737,147 (GRCm39)	L1295R	probably damaging	Het
Gm11437	A	G	11: 84,055,337 (GRCm39)	V93A	probably benign	Het
Gm9989	T	C	3: 81,829,549 (GRCm39)		noncoding transcript	Het
Gsdmc4	A	T	15: 63,765,736 (GRCm39)		probably null	Het
Gvin3	T	A	7: 106,198,772 (GRCm39)		noncoding transcript	Het
Ighv10-1	A	T	12: 114,442,643 (GRCm39)	M114K	probably benign	Het
Il22b	T	C	10: 118,126,115 (GRCm39)	I161V	probably damaging	Het
Itfg2	T	A	6: 128,387,413 (GRCm39)		probably benign	Het
Kirrel1	G	A	3: 86,995,774 (GRCm39)	Q387*	probably null	Het
Klk1	C	T	7: 43,876,968 (GRCm39)	R24*	probably null	Het
Klra7	T	C	6: 130,208,612 (GRCm39)		probably null	Het
Ltn1	T	C	16: 87,213,118 (GRCm39)	Y481C	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mrps2	A	G	2: 28,359,782 (GRCm39)	N213S	probably benign	Het
Muc4	A	T	16: 32,569,869 (GRCm39)	I310F	possibly damaging	Het
Ntrk3	T	A	7: 78,167,185 (GRCm39)	Y102F	probably damaging	Het
Or8k24	A	T	2: 86,216,431 (GRCm39)	C110*	probably null	Het
Otof	C	T	5: 30,556,635 (GRCm39)	G282D	probably damaging	Het
Pcdhb2	A	T	18: 37,430,367 (GRCm39)		probably null	Het
Pign	A	T	1: 105,515,703 (GRCm39)		probably null	Het
Plekha6	G	A	1: 133,222,416 (GRCm39)	E1001K	probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Ppm1d	A	G	11: 85,236,678 (GRCm39)	T486A	probably benign	Het
Pudp	A	G	18: 50,701,329 (GRCm39)	F135L	probably benign	Het
Rd3l	T	G	12: 111,945,945 (GRCm39)	N178T	probably benign	Het
Rel	A	C	11: 23,703,215 (GRCm39)		probably null	Het
Sf3a1	T	A	11: 4,117,824 (GRCm39)	F195L	probably damaging	Het
Slc30a1	G	C	1: 191,639,401 (GRCm39)	A95P	probably damaging	Het
Slc47a2	T	C	11: 61,194,773 (GRCm39)	T469A	probably benign	Het
Slc4a10	A	T	2: 61,876,989 (GRCm39)	M1L	probably benign	Het
Slc8a1	T	A	17: 81,955,703 (GRCm39)	D445V	probably damaging	Het
Slc9a7	C	T	X: 20,071,793 (GRCm39)	G113R	probably damaging	Het
Spata31e5	T	A	1: 28,816,712 (GRCm39)	D440V	probably damaging	Het
Stk26	A	G	X: 49,977,910 (GRCm39)	E317G	probably benign	Het
Tex10	A	T	4: 48,459,355 (GRCm39)	Y506*	probably null	Het
Trhde	T	A	10: 114,280,585 (GRCm39)	R848*	probably null	Het
Trpc5	T	A	X: 143,202,594 (GRCm39)	R545*	probably null	Het
Usp24	C	T	4: 106,216,286 (GRCm39)	T379M	possibly damaging	Het
Zfp783	A	T	6: 47,922,499 (GRCm39)		noncoding transcript	Het

Other mutations in Spic

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Spic	APN	10	88,511,729 (GRCm39)	missense	probably damaging	1.00
IGL01503:Spic	APN	10	88,511,623 (GRCm39)	missense	probably damaging	0.96
IGL01611:Spic	APN	10	88,511,864 (GRCm39)	missense	possibly damaging	0.69
IGL01792:Spic	APN	10	88,515,807 (GRCm39)	missense	possibly damaging	0.85
R0047:Spic	UTSW	10	88,511,803 (GRCm39)	missense	probably damaging	1.00
R0047:Spic	UTSW	10	88,511,803 (GRCm39)	missense	probably damaging	1.00
R0126:Spic	UTSW	10	88,511,924 (GRCm39)	missense	probably damaging	1.00
R0166:Spic	UTSW	10	88,511,579 (GRCm39)	missense	possibly damaging	0.84
R0585:Spic	UTSW	10	88,511,905 (GRCm39)	missense	probably damaging	1.00
R4066:Spic	UTSW	10	88,511,545 (GRCm39)	missense	possibly damaging	0.63
R4436:Spic	UTSW	10	88,512,817 (GRCm39)	missense	probably benign	0.03
R4748:Spic	UTSW	10	88,511,752 (GRCm39)	missense	probably damaging	1.00
R5001:Spic	UTSW	10	88,511,761 (GRCm39)	missense	possibly damaging	0.61
R8165:Spic	UTSW	10	88,513,428 (GRCm39)	missense	probably damaging	0.98
R8247:Spic	UTSW	10	88,511,923 (GRCm39)	missense	probably damaging	1.00
R8411:Spic	UTSW	10	88,514,498 (GRCm39)	missense	possibly damaging	0.74
R8681:Spic	UTSW	10	88,511,847 (GRCm39)	missense	possibly damaging	0.89
R9700:Spic	UTSW	10	88,515,757 (GRCm39)	missense	probably benign	0.14
R9777:Spic	UTSW	10	88,514,421 (GRCm39)	missense	possibly damaging	0.59
W0251:Spic	UTSW	10	88,515,766 (GRCm39)	missense	probably damaging	0.97
X0018:Spic	UTSW	10	88,514,427 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- ATGTAAACACTGCCTGGAAGG -3'
(R):5'- GCCAGAGCCCTGAGGAATTATG -3'

Sequencing Primer
(F):5'- GTAAACACTGCCTGGAAGGTTCTC -3'
(R):5'- CCCTGAGGAATTATGCCAGAACTG -3'

Posted On

2015-05-15