Mutagenetix > Incidental Mutation

Incidental Mutation 'R3423:Sp9'

348334

Institutional Source

Beutler Lab

Gene Symbol

Sp9

Ensembl Gene

ENSMUSG00000068859

Gene Name

trans-acting transcription factor 9

Synonyms

MMRRC Submission

040641-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.689) question?

Stock #

R3423 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

73094809-73106115 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73104315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 290 (A290T)

Ref Sequence

ENSEMBL: ENSMUSP00000088322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090813]

AlphaFold

Q64HY3

Predicted Effect

probably benign
Transcript: ENSMUST00000090813
AA Change: A290T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000088322
Gene: ENSMUSG00000068859
AA Change: A290T

Domain	Start	End	E-Value	Type
low complexity region	53	65	N/A	INTRINSIC
low complexity region	71	88	N/A	INTRINSIC
low complexity region	92	103	N/A	INTRINSIC
low complexity region	233	257	N/A	INTRINSIC
low complexity region	268	306	N/A	INTRINSIC
ZnF_C2H2	332	356	2.63e0	SMART
ZnF_C2H2	362	386	1.84e-4	SMART
ZnF_C2H2	392	414	5.99e-4	SMART
low complexity region	416	427	N/A	INTRINSIC
low complexity region	452	472	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147133

Meta Mutation Damage Score

0.0713

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8	A	G	17: 32,535,429 (GRCm39)	F195S	possibly damaging	Het
Aldh3a1	G	A	11: 61,106,362 (GRCm39)	A246T	probably damaging	Het
Caskin1	T	A	17: 24,718,539 (GRCm39)	N331K	probably damaging	Het
Ceacam5	G	A	7: 17,491,562 (GRCm39)	S644N	possibly damaging	Het
Csmd3	A	T	15: 47,710,648 (GRCm39)	D1646E	probably damaging	Het
Cyp4a12a	A	C	4: 115,184,471 (GRCm39)	K282T	probably benign	Het
Dtnb	C	T	12: 3,641,962 (GRCm39)	R42*	probably null	Het
Dyrk3	A	G	1: 131,057,219 (GRCm39)	I318T	probably damaging	Het
Fhip2b	G	A	14: 70,824,025 (GRCm39)	T535M	probably damaging	Het
Gm11110	T	C	17: 57,410,435 (GRCm39)		probably benign	Het
Gm8674	T	A	13: 50,055,792 (GRCm39)		noncoding transcript	Het
Igfn1	A	G	1: 135,926,379 (GRCm39)	S24P	probably benign	Het
Inpp4b	A	G	8: 82,678,890 (GRCm39)	M307V	possibly damaging	Het
Ism2	T	C	12: 87,333,871 (GRCm39)	N58S	probably benign	Het
Kmt2a	A	C	9: 44,731,394 (GRCm39)		probably benign	Het
Limk1	A	G	5: 134,701,523 (GRCm39)		probably null	Het
Lrrc14	T	A	15: 76,597,318 (GRCm39)		probably null	Het
Mapt	C	T	11: 104,189,548 (GRCm39)	R189*	probably null	Het
Meltf	C	T	16: 31,715,343 (GRCm39)	R679*	probably null	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Mug2	T	C	6: 122,024,465 (GRCm39)		probably benign	Het
Myo15a	G	A	11: 60,401,126 (GRCm39)		probably null	Het
Nup98	T	C	7: 101,834,084 (GRCm39)	T293A	probably benign	Het
Nwd2	A	T	5: 63,957,504 (GRCm39)	Y278F	probably damaging	Het
Or12d12	T	A	17: 37,610,761 (GRCm39)	D184V	probably benign	Het
Phactr4	A	C	4: 132,097,058 (GRCm39)	D496E	probably benign	Het
Pramel6	T	A	2: 87,341,140 (GRCm39)		probably null	Het
Ptprq	C	T	10: 107,418,337 (GRCm39)	A1680T	probably damaging	Het
Retnlb	T	A	16: 48,639,008 (GRCm39)	C70S	probably damaging	Het
Ros1	C	A	10: 52,004,512 (GRCm39)		probably null	Het
Sez6l	T	C	5: 112,574,615 (GRCm39)	D875G	probably damaging	Het
Slc18b1	T	G	10: 23,698,874 (GRCm39)	M348R	probably damaging	Het
Slc36a3	G	T	11: 55,033,607 (GRCm39)	T137K	probably benign	Het
Sos2	T	C	12: 69,650,327 (GRCm39)	N865D	probably damaging	Het
Spg11	C	T	2: 121,901,534 (GRCm39)	V1469I	probably benign	Het
Unc13c	G	T	9: 73,837,935 (GRCm39)	A972D	possibly damaging	Het
Vwa3a	T	C	7: 120,398,334 (GRCm39)	L945P	probably damaging	Het

Other mutations in Sp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03129:Sp9	APN	2	73,103,865 (GRCm39)	missense	probably benign	0.00
R0604:Sp9	UTSW	2	73,103,982 (GRCm39)	missense	probably benign	0.00
R0718:Sp9	UTSW	2	73,104,171 (GRCm39)	missense	possibly damaging	0.70
R3747:Sp9	UTSW	2	73,104,652 (GRCm39)	missense	probably damaging	0.98
R4335:Sp9	UTSW	2	73,104,633 (GRCm39)	missense	probably damaging	1.00
R4873:Sp9	UTSW	2	73,103,962 (GRCm39)	missense	possibly damaging	0.86
R4875:Sp9	UTSW	2	73,103,962 (GRCm39)	missense	possibly damaging	0.86
R5341:Sp9	UTSW	2	73,104,858 (GRCm39)	missense	possibly damaging	0.92
R5389:Sp9	UTSW	2	73,104,641 (GRCm39)	missense	probably damaging	0.99
R5891:Sp9	UTSW	2	73,104,595 (GRCm39)	missense	probably damaging	1.00
R6938:Sp9	UTSW	2	73,103,616 (GRCm39)	missense	probably damaging	0.99
R7092:Sp9	UTSW	2	73,104,115 (GRCm39)	missense	probably damaging	0.99
R7699:Sp9	UTSW	2	73,103,724 (GRCm39)	missense	probably damaging	0.98
R8336:Sp9	UTSW	2	73,104,796 (GRCm39)	missense	possibly damaging	0.86
R8809:Sp9	UTSW	2	73,104,019 (GRCm39)	missense	probably damaging	1.00
R8900:Sp9	UTSW	2	73,103,863 (GRCm39)	missense	probably benign	0.03
R9057:Sp9	UTSW	2	73,103,613 (GRCm39)	missense	probably damaging	1.00
R9225:Sp9	UTSW	2	73,103,839 (GRCm39)	nonsense	probably null
R9335:Sp9	UTSW	2	73,104,621 (GRCm39)	missense	probably damaging	0.99
R9462:Sp9	UTSW	2	73,104,243 (GRCm39)	missense	probably benign	0.23
Z1088:Sp9	UTSW	2	73,103,574 (GRCm39)	missense	possibly damaging	0.94
Z1176:Sp9	UTSW	2	73,103,800 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCATCTCCAAGGTGCACACG -3'
(R):5'- ACGTCTTGCCGTACACCTTG -3'

Sequencing Primer
(F):5'- CGTACGAGTCGTGGTACAAGTC -3'
(R):5'- GCCGTACACCTTGCCACAG -3'

Posted On

2015-10-08