Mutagenetix > Incidental Mutation

Incidental Mutation 'R8709:Stkld1'

669422

Institutional Source

Beutler Lab

Gene Symbol

Stkld1

Ensembl Gene

ENSMUSG00000049897

Gene Name

serine/threonine kinase-like domain containing 1

Synonyms

LOC279029, Gm711

MMRRC Submission

068563-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R8709 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26824059-26843508 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26835817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 217 (H217Q)

Ref Sequence

ENSEMBL: ENSMUSP00000062967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055406] [ENSMUST00000153771]

AlphaFold

Q80YS9

Predicted Effect

probably benign
Transcript: ENSMUST00000055406
AA Change: H217Q

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000062967
Gene: ENSMUSG00000049897
AA Change: H217Q

Domain	Start	End	E-Value	Type
Pfam:Pkinase	3	266	8e-35	PFAM
Pfam:Pkinase_Tyr	7	262	4.5e-27	PFAM
low complexity region	352	366	N/A	INTRINSIC
low complexity region	446	456	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153771

SMART Domains

Protein: ENSMUSP00000121332
Gene: ENSMUSG00000049897

Domain	Start	End	E-Value	Type
Pfam:Pkinase	4	116	2.3e-8	PFAM
Pfam:Pkinase_Tyr	6	115	4.6e-6	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	A	G	4: 124,504,316 (GRCm39)	S79P	unknown	Het
Aadacl4fm2	C	G	4: 144,281,863 (GRCm39)	A310P	probably damaging	Het
Adamts20	T	A	15: 94,238,947 (GRCm39)	D757V	probably damaging	Het
Adamts9	C	T	6: 92,784,144 (GRCm39)	G1570D	probably damaging	Het
Adamtsl3	A	G	7: 82,077,642 (GRCm39)	Y109C	possibly damaging	Het
Agl	G	A	3: 116,566,121 (GRCm39)	R335C		Het
Ankfy1	C	A	11: 72,646,532 (GRCm39)	T805K	possibly damaging	Het
Cast	A	T	13: 74,892,780 (GRCm39)	V96E	probably damaging	Het
Cdh17	G	T	4: 11,795,685 (GRCm39)	E422*	probably null	Het
Cox4i1	T	A	8: 121,396,110 (GRCm39)	L21H	possibly damaging	Het
Cwc22	T	C	2: 77,726,694 (GRCm39)	E795G	probably benign	Het
Cwf19l2	C	A	9: 3,430,723 (GRCm39)	Q352K	probably benign	Het
Cyp2d9	T	C	15: 82,339,276 (GRCm39)	V226A	probably benign	Het
Dnah12	A	G	14: 26,414,757 (GRCm39)	I53V	probably benign	Het
Dnah7a	T	C	1: 53,674,476 (GRCm39)	I434V	probably benign	Het
Dock8	C	T	19: 25,055,448 (GRCm39)	Q137*	probably null	Het
Eif4b	T	G	15: 102,002,116 (GRCm39)	V515G	unknown	Het
Far2	T	A	6: 148,067,133 (GRCm39)	N339K	probably benign	Het
Gpr22	T	C	12: 31,759,829 (GRCm39)	T98A	probably damaging	Het
Hamp2	A	G	7: 30,621,974 (GRCm39)	C72R	probably damaging	Het
Hmgn1	G	A	16: 95,928,540 (GRCm39)	P16S	possibly damaging	Het
Hspd1	A	G	1: 55,120,922 (GRCm39)	S256P	probably benign	Het
Iqcn	T	C	8: 71,162,372 (GRCm39)	C522R	possibly damaging	Het
Iqgap2	T	C	13: 95,796,713 (GRCm39)	H1147R	probably damaging	Het
Itgb1	T	A	8: 129,439,887 (GRCm39)		probably benign	Het
Klhl29	A	T	12: 5,140,681 (GRCm39)	W654R	probably damaging	Het
Krtap22-2	T	A	16: 88,807,514 (GRCm39)	Y28F	unknown	Het
Lcp2	T	A	11: 34,004,354 (GRCm39)		probably benign	Het
Muc5ac	T	G	7: 141,370,663 (GRCm39)	L3225R	possibly damaging	Het
Myom3	A	G	4: 135,523,607 (GRCm39)	E908G	possibly damaging	Het
Nup54	A	G	5: 92,570,267 (GRCm39)		probably benign	Het
Or1p1	T	A	11: 74,180,054 (GRCm39)	I194N	possibly damaging	Het
Or4a74	C	T	2: 89,440,366 (GRCm39)	V27I	probably benign	Het
Or51af1	T	C	7: 103,141,519 (GRCm39)	T189A	probably benign	Het
Or5ae1	T	A	7: 84,565,671 (GRCm39)	I228N	probably damaging	Het
Pak4	A	C	7: 28,261,969 (GRCm39)	D453E	probably benign	Het
Pkd1l1	T	C	11: 8,805,567 (GRCm39)	T2120A		Het
Pkhd1l1	T	A	15: 44,381,570 (GRCm39)	S1099T	probably benign	Het
Pld2	C	T	11: 70,444,275 (GRCm39)	R524W	probably damaging	Het
Polr1a	T	A	6: 71,951,832 (GRCm39)	D1466E	probably benign	Het
Pxdn	C	T	12: 30,056,601 (GRCm39)	L1271F	probably damaging	Het
Rp1l1	A	C	14: 64,269,295 (GRCm39)	D1627A	probably damaging	Het
Sephs1	T	C	2: 4,889,402 (GRCm39)	V60A	probably benign	Het
Sipa1	C	T	19: 5,710,980 (GRCm39)	R10Q	probably damaging	Het
Sp4	T	C	12: 118,263,189 (GRCm39)	T286A	possibly damaging	Het
Spag5	T	A	11: 78,192,738 (GRCm39)	S23R	probably benign	Het
Spag9	T	A	11: 93,958,916 (GRCm39)	N313K	probably benign	Het
Stag1	T	A	9: 100,772,975 (GRCm39)		probably benign	Het
Stxbp2	T	A	8: 3,683,914 (GRCm39)	F104I	possibly damaging	Het
Tcf12	A	G	9: 71,765,787 (GRCm39)	V575A	possibly damaging	Het
Tcf12	A	T	9: 71,830,069 (GRCm39)	S131T	probably benign	Het
Tg	T	A	15: 66,553,786 (GRCm39)	S400R	probably benign	Het
Tomm40	T	C	7: 19,444,703 (GRCm39)	T200A	possibly damaging	Het
Trio	T	C	15: 27,919,323 (GRCm39)	E71G	unknown	Het
Zfp292	A	T	4: 34,805,982 (GRCm39)	V2359E	probably damaging	Het

Other mutations in Stkld1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01128:Stkld1	APN	2	26,841,483 (GRCm39)	missense	probably benign	0.01
IGL02183:Stkld1	APN	2	26,836,671 (GRCm39)	missense	probably benign	0.04
IGL02393:Stkld1	APN	2	26,840,154 (GRCm39)	missense	probably benign	0.41
IGL03136:Stkld1	APN	2	26,841,435 (GRCm39)	missense	probably benign	0.00
IGL03261:Stkld1	APN	2	26,842,789 (GRCm39)	missense	probably benign	0.21
R0067:Stkld1	UTSW	2	26,839,352 (GRCm39)	missense	probably benign	0.01
R0067:Stkld1	UTSW	2	26,839,352 (GRCm39)	missense	probably benign	0.01
R0973:Stkld1	UTSW	2	26,841,462 (GRCm39)	missense	probably benign	0.00
R1065:Stkld1	UTSW	2	26,830,050 (GRCm39)	missense	probably damaging	0.97
R1467:Stkld1	UTSW	2	26,839,407 (GRCm39)	missense	probably benign	0.00
R1467:Stkld1	UTSW	2	26,839,407 (GRCm39)	missense	probably benign	0.00
R1565:Stkld1	UTSW	2	26,840,102 (GRCm39)	missense	probably benign	0.00
R1844:Stkld1	UTSW	2	26,840,115 (GRCm39)	missense	probably damaging	1.00
R1871:Stkld1	UTSW	2	26,827,985 (GRCm39)	unclassified	probably benign
R1965:Stkld1	UTSW	2	26,836,744 (GRCm39)	splice site	probably null
R2001:Stkld1	UTSW	2	26,842,759 (GRCm39)	missense	probably damaging	1.00
R2308:Stkld1	UTSW	2	26,842,726 (GRCm39)	missense	probably damaging	0.98
R2566:Stkld1	UTSW	2	26,840,650 (GRCm39)	missense	probably damaging	1.00
R3929:Stkld1	UTSW	2	26,830,059 (GRCm39)	critical splice donor site	probably null
R4257:Stkld1	UTSW	2	26,833,146 (GRCm39)	missense	probably benign	0.02
R4493:Stkld1	UTSW	2	26,836,638 (GRCm39)	missense	probably benign	0.00
R4494:Stkld1	UTSW	2	26,836,638 (GRCm39)	missense	probably benign	0.00
R4589:Stkld1	UTSW	2	26,840,679 (GRCm39)	missense	probably damaging	1.00
R4775:Stkld1	UTSW	2	26,841,757 (GRCm39)	missense	probably damaging	0.99
R5601:Stkld1	UTSW	2	26,842,717 (GRCm39)	missense	probably damaging	1.00
R5707:Stkld1	UTSW	2	26,833,999 (GRCm39)	missense	probably damaging	1.00
R6259:Stkld1	UTSW	2	26,839,393 (GRCm39)	missense	possibly damaging	0.70
R6306:Stkld1	UTSW	2	26,833,899 (GRCm39)	missense	probably damaging	0.98
R6349:Stkld1	UTSW	2	26,835,872 (GRCm39)	missense	probably benign	0.00
R6418:Stkld1	UTSW	2	26,831,093 (GRCm39)	missense	possibly damaging	0.47
R6806:Stkld1	UTSW	2	26,833,922 (GRCm39)	missense	probably benign	0.01
R7079:Stkld1	UTSW	2	26,839,359 (GRCm39)	missense	probably benign	0.00
R7199:Stkld1	UTSW	2	26,842,726 (GRCm39)	missense	probably damaging	0.98
R7522:Stkld1	UTSW	2	26,837,259 (GRCm39)	missense	probably benign	0.13
R7556:Stkld1	UTSW	2	26,837,307 (GRCm39)	missense	possibly damaging	0.74
R7813:Stkld1	UTSW	2	26,835,888 (GRCm39)	nonsense	probably null
R8165:Stkld1	UTSW	2	26,836,668 (GRCm39)	missense	probably benign	0.01
R8330:Stkld1	UTSW	2	26,841,515 (GRCm39)	missense	probably benign	0.00
R8935:Stkld1	UTSW	2	26,833,941 (GRCm39)	nonsense	probably null
R9137:Stkld1	UTSW	2	26,840,572 (GRCm39)	missense	probably benign	0.00
R9599:Stkld1	UTSW	2	26,843,297 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- CTTTCTCTGGTCCATGGAGG -3'
(R):5'- ACATGTGGGCAAATCGGGAC -3'

Sequencing Primer
(F):5'- CATGGAGGCTACACTATGCTGAC -3'
(R):5'- CAAATCGGGACAGCTCTGTATG -3'

Posted On

2021-04-30