Mutagenetix > Incidental Mutation

Incidental Mutation 'R6938:Sp9'

540366

Institutional Source

Beutler Lab

Gene Symbol

Sp9

Ensembl Gene

ENSMUSG00000068859

Gene Name

trans-acting transcription factor 9

Synonyms

MMRRC Submission

045052-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.689) question?

Stock #

R6938 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73094809-73106115 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73103616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 57 (C57R)

Ref Sequence

ENSEMBL: ENSMUSP00000088322 (fasta)

Gene Model

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

AlphaFold

Q64HY3

Predicted Effect

probably damaging
Transcript: ENSMUST00000090813
AA Change: C57R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088322
Gene: ENSMUSG00000068859
AA Change: C57R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot7	T	C	4: 152,302,351 (GRCm39)		probably null	Het
Acp6	T	C	3: 97,082,949 (GRCm39)	M320T	probably benign	Het
Adam22	A	T	5: 8,196,499 (GRCm39)	Y259N	probably benign	Het
Akap9	C	A	5: 4,096,628 (GRCm39)	A2501D	possibly damaging	Het
Angpt2	G	T	8: 18,748,105 (GRCm39)	S385*	probably null	Het
Asxl2	G	C	12: 3,526,149 (GRCm39)	R255T	probably damaging	Het
Btg3	T	C	16: 78,157,216 (GRCm39)	I244V	probably benign	Het
Casr	T	C	16: 36,316,283 (GRCm39)	T596A	probably damaging	Het
Ccl1	A	T	11: 82,067,684 (GRCm39)	V82D	probably damaging	Het
Col18a1	T	A	10: 76,948,333 (GRCm39)		probably benign	Het
Crybg1	T	C	10: 43,873,379 (GRCm39)	D1243G	probably benign	Het
Dnaaf9	A	C	2: 130,617,673 (GRCm39)	H297Q	probably benign	Het
Drc3	A	T	11: 60,284,949 (GRCm39)		probably null	Het
Enpep	T	C	3: 129,092,599 (GRCm39)	D528G	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Gbp4	T	C	5: 105,282,943 (GRCm39)	D109G	probably damaging	Het
Gstz1	A	G	12: 87,193,943 (GRCm39)		probably null	Het
Kctd10	C	A	5: 114,508,191 (GRCm39)	E106*	probably null	Het
Kctd20	G	A	17: 29,180,555 (GRCm39)	G110S	probably benign	Het
Klk1b26	A	T	7: 43,665,718 (GRCm39)	T177S	probably benign	Het
Kyat3	T	A	3: 142,431,183 (GRCm39)	V118E	probably damaging	Het
Maml3	T	C	3: 52,011,159 (GRCm39)	K136E	probably damaging	Het
Mex3d	T	C	10: 80,218,074 (GRCm39)	N381S	possibly damaging	Het
Mmrn2	A	T	14: 34,120,671 (GRCm39)	T514S	probably benign	Het
Nlrp1b	G	A	11: 71,109,042 (GRCm39)	A153V	probably damaging	Het
Or13e8	C	T	4: 43,696,286 (GRCm39)	V296M	probably damaging	Het
Pcolce	T	C	5: 137,603,878 (GRCm39)	T365A	probably benign	Het
Plbd1	T	C	6: 136,593,985 (GRCm39)	I377V	probably benign	Het
Plk2	T	A	13: 110,533,214 (GRCm39)	Y192*	probably null	Het
Rev3l	T	A	10: 39,738,706 (GRCm39)	V2820D	probably damaging	Het
Secisbp2l	G	T	2: 125,592,272 (GRCm39)	P650T	probably damaging	Het
Slc9a5	T	C	8: 106,080,064 (GRCm39)	L69P	probably damaging	Het
Tbl3	A	T	17: 24,924,187 (GRCm39)	V190D	possibly damaging	Het
Timm8b	A	G	9: 50,516,294 (GRCm39)	D49G	possibly damaging	Het
Tmem231	T	C	8: 112,660,144 (GRCm39)	S53G	probably damaging	Het
Topbp1	T	A	9: 103,205,753 (GRCm39)	V797D	probably damaging	Het
Trip11	A	T	12: 101,803,886 (GRCm39)	D1665E	probably damaging	Het
Txk	C	A	5: 72,856,492 (GRCm39)	R433L	probably damaging	Het
Vmn1r19	T	C	6: 57,381,992 (GRCm39)	S182P	possibly damaging	Het
Vps13b	T	G	15: 35,423,344 (GRCm39)	I221M	probably damaging	Het
Xpo7	T	C	14: 70,903,464 (GRCm39)	N1082D	probably benign	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
R3423:Sp9	UTSW	2	73,104,315 (GRCm39)	missense	probably benign	0.00
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
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'- GAACAACTTTCCTACTCGCTCGTG -3'
(R):5'- TGTGCACCTTGGAGATGAAG -3'

Sequencing Primer
(F):5'- GCTCACCGGTGCACTTTGTG -3'
(R):5'- CCTTGGAGATGAAGGCCGACTG -3'

Posted On

2018-11-06