Mutagenetix > Incidental Mutation

Incidental Mutation 'R6717:Stk33'

529433

Institutional Source

Beutler Lab

Gene Symbol

Stk33

Ensembl Gene

ENSMUSG00000031027

Gene Name

serine/threonine kinase 33

Synonyms

4921505G21Rik

MMRRC Submission

044835-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R6717 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108878430-109038288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108926823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 279 (T279S)

Ref Sequence

ENSEMBL: ENSMUSP00000112515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090414] [ENSMUST00000106745] [ENSMUST00000121378] [ENSMUST00000121748] [ENSMUST00000141210]

AlphaFold

Q924X7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090414
AA Change: T279S

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000087897
Gene: ENSMUSG00000031027
AA Change: T279S

Domain	Start	End	E-Value	Type
S_TKc	111	377	4.7e-102	SMART
low complexity region	399	414	N/A	INTRINSIC
low complexity region	445	467	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106745
AA Change: T279S

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102356
Gene: ENSMUSG00000031027
AA Change: T279S

Domain	Start	End	E-Value	Type
S_TKc	111	377	4.7e-102	SMART
low complexity region	399	414	N/A	INTRINSIC
low complexity region	445	467	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121378
AA Change: T156S

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112560
Gene: ENSMUSG00000031027
AA Change: T156S

Domain	Start	End	E-Value	Type
S_TKc	2	254	1.01e-83	SMART
low complexity region	276	291	N/A	INTRINSIC
low complexity region	322	344	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121748
AA Change: T279S

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112515
Gene: ENSMUSG00000031027
AA Change: T279S

Domain	Start	End	E-Value	Type
S_TKc	111	377	4.8e-102	SMART
low complexity region	399	414	N/A	INTRINSIC
low complexity region	445	467	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141210

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	C	T	5: 4,114,086 (GRCm39)	L3122F	probably damaging	Het
Atp6v1b1	A	T	6: 83,730,632 (GRCm39)		probably null	Het
Ccdc178	A	T	18: 22,153,946 (GRCm39)	V621E	probably damaging	Het
Cfap126	T	C	1: 170,941,671 (GRCm39)		probably null	Het
Cog2	T	C	8: 125,252,488 (GRCm39)	I64T	probably damaging	Het
Dhx9	A	C	1: 153,349,210 (GRCm39)		probably null	Het
Efcab7	A	G	4: 99,761,931 (GRCm39)	D407G	possibly damaging	Het
Eif2b5	G	T	16: 20,324,033 (GRCm39)	G459C	probably damaging	Het
Eml5	T	C	12: 98,793,765 (GRCm39)	E1168G	probably damaging	Het
Flnc	AGCTGTCAAGTATGCTG	AGCTG	6: 29,450,901 (GRCm39)		probably benign	Het
Fry	A	G	5: 150,419,777 (GRCm39)	T980A	probably benign	Het
Gabbr2	A	G	4: 46,787,574 (GRCm39)	V363A	possibly damaging	Het
Ggt6	T	A	11: 72,328,346 (GRCm39)	L244*	probably null	Het
Gprc6a	T	A	10: 51,491,233 (GRCm39)	I768F	probably damaging	Het
Grk1	G	A	8: 13,466,237 (GRCm39)	M560I	probably benign	Het
Hapln4	G	A	8: 70,537,740 (GRCm39)	E145K	probably damaging	Het
Hoxd9	C	T	2: 74,528,733 (GRCm39)	P112S	probably benign	Het
Ly6g6f	T	A	17: 35,304,550 (GRCm39)	M1L	probably benign	Het
Mast1	T	C	8: 85,644,383 (GRCm39)	T849A	probably benign	Het
Mob4	A	T	1: 55,175,872 (GRCm39)	M39L	possibly damaging	Het
Mrgpre	A	T	7: 143,335,260 (GRCm39)	L81Q	probably damaging	Het
Mst1	T	C	9: 107,957,774 (GRCm39)		probably null	Het
Muc5b	A	T	7: 141,411,559 (GRCm39)	R1502*	probably null	Het
Or4b13	T	A	2: 90,082,868 (GRCm39)	I155L	probably benign	Het
Or5ap2	T	A	2: 85,680,567 (GRCm39)	I257N	probably damaging	Het
Or9e1	T	C	11: 58,732,113 (GRCm39)	Y58H	probably damaging	Het
Pdc	A	G	1: 150,208,769 (GRCm39)	D84G	probably damaging	Het
Peak1	T	C	9: 56,114,523 (GRCm39)	N443D	probably benign	Het
Pkd1l3	T	A	8: 110,341,401 (GRCm39)	W85R	unknown	Het
Pramel31	G	T	4: 144,089,227 (GRCm39)	V182L	probably benign	Het
Rfc1	G	A	5: 65,459,347 (GRCm39)	Q190*	probably null	Het
Rfc1	A	G	5: 65,470,304 (GRCm39)	S68P	probably damaging	Het
Rnf145	T	C	11: 44,452,317 (GRCm39)	V432A	probably benign	Het
Ror2	A	G	13: 53,273,018 (GRCm39)	S204P	probably damaging	Het
Scn1a	T	C	2: 66,162,631 (GRCm39)	E205G	probably damaging	Het
Slc2a8	A	C	2: 32,866,189 (GRCm39)	M277R	probably damaging	Het
Slc4a1	T	C	11: 102,245,249 (GRCm39)	Y566C	probably damaging	Het
Slc6a12	A	G	6: 121,331,262 (GRCm39)	N185S	probably benign	Het
Srcap	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	7: 127,157,482 (GRCm39)		probably benign	Het
Taok3	A	G	5: 117,379,015 (GRCm39)		probably benign	Het
Tlr11	A	G	14: 50,599,561 (GRCm39)	T516A	probably benign	Het
Tmem132c	T	A	5: 127,641,093 (GRCm39)	L1088Q	possibly damaging	Het
Tmem132d	T	A	5: 127,861,485 (GRCm39)	M879L	probably benign	Het
Tnk2	A	G	16: 32,489,687 (GRCm39)	E322G	probably damaging	Het
Ttc28	T	C	5: 111,433,302 (GRCm39)	V2081A	probably benign	Het
Ttn	C	T	2: 76,624,753 (GRCm39)		probably null	Het
Zfp105	T	C	9: 122,759,373 (GRCm39)	V348A	possibly damaging	Het
Zswim2	T	C	2: 83,745,753 (GRCm39)	R562G	probably benign	Het

Other mutations in Stk33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01137:Stk33	APN	7	108,928,775 (GRCm39)	missense	probably benign	0.02
IGL01467:Stk33	APN	7	108,928,796 (GRCm39)	missense	probably damaging	0.99
IGL01558:Stk33	APN	7	108,940,491 (GRCm39)	intron	probably benign
IGL01775:Stk33	APN	7	108,911,574 (GRCm39)	missense	possibly damaging	0.92
R0052:Stk33	UTSW	7	108,878,876 (GRCm39)	missense	possibly damaging	0.46
R0336:Stk33	UTSW	7	108,930,681 (GRCm39)	missense	probably benign	0.01
R0394:Stk33	UTSW	7	108,940,696 (GRCm39)	missense	probably benign
R0579:Stk33	UTSW	7	108,924,904 (GRCm39)	missense	probably damaging	0.99
R0727:Stk33	UTSW	7	108,920,725 (GRCm39)	missense	probably damaging	0.96
R1363:Stk33	UTSW	7	108,879,028 (GRCm39)	missense	probably benign	0.06
R1574:Stk33	UTSW	7	108,879,027 (GRCm39)	missense	probably benign	0.01
R1574:Stk33	UTSW	7	108,879,027 (GRCm39)	missense	probably benign	0.01
R2153:Stk33	UTSW	7	108,940,527 (GRCm39)	missense	probably benign	0.01
R4366:Stk33	UTSW	7	108,879,002 (GRCm39)	missense	probably benign	0.06
R4896:Stk33	UTSW	7	108,926,802 (GRCm39)	missense	probably damaging	1.00
R4994:Stk33	UTSW	7	108,939,605 (GRCm39)	missense	probably benign	0.08
R5283:Stk33	UTSW	7	108,935,334 (GRCm39)	missense	possibly damaging	0.69
R6339:Stk33	UTSW	7	108,920,672 (GRCm39)	missense	probably benign	0.03
R6547:Stk33	UTSW	7	108,920,042 (GRCm39)	missense	possibly damaging	0.73
R6894:Stk33	UTSW	7	108,935,269 (GRCm39)	missense	possibly damaging	0.70
R8975:Stk33	UTSW	7	108,935,280 (GRCm39)	missense	probably damaging	1.00
R9168:Stk33	UTSW	7	108,928,747 (GRCm39)	missense	probably damaging	0.99
R9175:Stk33	UTSW	7	108,920,724 (GRCm39)	missense	probably damaging	1.00
R9204:Stk33	UTSW	7	108,940,686 (GRCm39)	missense	probably benign	0.00
R9416:Stk33	UTSW	7	108,940,689 (GRCm39)	missense	probably benign	0.39
Z1176:Stk33	UTSW	7	108,935,266 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- GAGCACTGGGAATTACTGGG -3'
(R):5'- GTGATAGAAGGAAAAGTCTGTCCC -3'

Sequencing Primer
(F):5'- CACTGGGAATTACTGGGAACGAG -3'
(R):5'- GACAGAAGTCACTGGATGAC -3'

Posted On

2018-08-01