Mutagenetix > Incidental Mutation

Incidental Mutation 'R4365:Spindoc'

500594

Institutional Source

Beutler Lab

Gene Symbol

Spindoc

Ensembl Gene

ENSMUSG00000024970

Gene Name

spindlin interactor and repressor of chromatin binding

Synonyms

AI846148

MMRRC Submission

041113-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R4365 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7331443-7360359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7351219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 246 (D246G)

Ref Sequence

ENSEMBL: ENSMUSP00000025924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025924]

AlphaFold

Q05AH6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025924
AA Change: D246G

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025924
Gene: ENSMUSG00000024970
AA Change: D246G

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
Blast:ZnF_C2H2	91	115	1e-6	BLAST
low complexity region	186	203	N/A	INTRINSIC
low complexity region	243	256	N/A	INTRINSIC
low complexity region	304	315	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apob	A	T	12: 8,066,083 (GRCm39)	I4318F	possibly damaging	Het
Btrc	G	A	19: 45,501,919 (GRCm39)	D213N	probably damaging	Het
C4b	T	A	17: 34,953,717 (GRCm39)	I964F	possibly damaging	Het
Cacna1f	G	T	X: 7,476,213 (GRCm39)	A123S	probably damaging	Het
Ccdc153	G	A	9: 44,154,889 (GRCm39)	A71T	probably damaging	Het
Celsr3	C	A	9: 108,707,046 (GRCm39)	D1176E	possibly damaging	Het
Cfap46	A	C	7: 139,230,868 (GRCm39)	V920G	probably damaging	Het
Cnot10	T	A	9: 114,460,949 (GRCm39)	K74*	probably null	Het
Dnajb12	T	C	10: 59,715,588 (GRCm39)	F30S	probably damaging	Het
Emilin3	T	C	2: 160,750,406 (GRCm39)	R401G	probably benign	Het
F5	A	G	1: 164,012,519 (GRCm39)	T478A	probably damaging	Het
Hspa4l	C	A	3: 40,721,241 (GRCm39)		probably null	Het
Il1rl2	G	T	1: 40,390,951 (GRCm39)	R298L	probably benign	Het
Lipo2	A	T	19: 33,699,108 (GRCm39)	S307R	probably damaging	Het
Lrit2	T	A	14: 36,794,076 (GRCm39)	L380Q	probably damaging	Het
Ncan	A	G	8: 70,567,861 (GRCm39)	S84P	probably damaging	Het
Ncoa2	T	C	1: 13,250,771 (GRCm39)	I304V	probably damaging	Het
Nfe2l2	T	C	2: 75,509,772 (GRCm39)	D16G	probably damaging	Het
Nt5dc1	T	C	10: 34,186,377 (GRCm39)	D397G	probably benign	Het
Obsl1	A	C	1: 75,464,693 (GRCm39)	L1576R	possibly damaging	Het
Or5p1	A	T	7: 107,916,313 (GRCm39)	I71F	probably benign	Het
Or5v1	T	C	17: 37,810,270 (GRCm39)	S243P	probably damaging	Het
Or6c212	A	G	10: 129,559,281 (GRCm39)	I44T	probably damaging	Het
Pcdh17	A	G	14: 84,685,726 (GRCm39)	E731G	probably damaging	Het
Rag1	T	A	2: 101,473,288 (GRCm39)	K618M	probably damaging	Het
Ripor2	C	T	13: 24,905,694 (GRCm39)	P947S	probably benign	Het
Rnf150	A	G	8: 83,590,744 (GRCm39)	K36E	probably benign	Het
S100a9	T	C	3: 90,600,081 (GRCm39)	H105R	unknown	Het
St8sia4	A	T	1: 95,519,517 (GRCm39)	Y324N	possibly damaging	Het
Tlr11	T	A	14: 50,598,926 (GRCm39)	I304N	probably damaging	Het
Trpm3	A	G	19: 22,955,694 (GRCm39)	T1090A	probably benign	Het
Ube4a	T	C	9: 44,871,379 (GRCm39)	N7D	probably damaging	Het

Other mutations in Spindoc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01924:Spindoc	APN	19	7,360,042 (GRCm39)	missense	probably damaging	1.00
IGL02288:Spindoc	APN	19	7,335,667 (GRCm39)	nonsense	probably null
R0513:Spindoc	UTSW	19	7,351,509 (GRCm39)	missense	probably benign
R0831:Spindoc	UTSW	19	7,352,100 (GRCm39)	missense	probably benign	0.45
R1444:Spindoc	UTSW	19	7,360,086 (GRCm39)	missense	probably benign
R1636:Spindoc	UTSW	19	7,351,922 (GRCm39)	missense	probably damaging	1.00
R3732:Spindoc	UTSW	19	7,351,666 (GRCm39)	missense	probably damaging	1.00
R3732:Spindoc	UTSW	19	7,351,666 (GRCm39)	missense	probably damaging	1.00
R3733:Spindoc	UTSW	19	7,351,666 (GRCm39)	missense	probably damaging	1.00
R4785:Spindoc	UTSW	19	7,351,456 (GRCm39)	missense	probably benign
R5227:Spindoc	UTSW	19	7,351,512 (GRCm39)	missense	probably benign	0.00
R5982:Spindoc	UTSW	19	7,351,960 (GRCm39)	missense	probably damaging	1.00
R5987:Spindoc	UTSW	19	7,351,024 (GRCm39)	missense	probably benign	0.19
R6538:Spindoc	UTSW	19	7,360,064 (GRCm39)	missense	probably benign	0.17
R6718:Spindoc	UTSW	19	7,335,781 (GRCm39)	missense	probably damaging	0.99
R7102:Spindoc	UTSW	19	7,335,807 (GRCm39)	missense	probably benign	0.00
R7272:Spindoc	UTSW	19	7,360,085 (GRCm39)	missense	possibly damaging	0.77
R8348:Spindoc	UTSW	19	7,335,769 (GRCm39)	missense	possibly damaging	0.64
R8448:Spindoc	UTSW	19	7,335,769 (GRCm39)	missense	possibly damaging	0.64
R9624:Spindoc	UTSW	19	7,352,197 (GRCm39)	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- AGGGACTCAGCTTTCCTCAC -3'
(R):5'- AAAATCTTGGACCCTGACCC -3'

Sequencing Primer
(F):5'- CTCACCTGAAGAGGGGTTTTG -3'
(R):5'- CCAGGTGAGGGGACTTAGG -3'

Posted On

2017-12-01