Mutagenetix > Incidental Mutation

Incidental Mutation 'R9401:Hipk1'

711202

Institutional Source

Beutler Lab

Gene Symbol

Hipk1

Ensembl Gene

ENSMUSG00000008730

Gene Name

homeodomain interacting protein kinase 1

Synonyms

1110062K04Rik, Myak

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9401 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103647131-103698879 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103685295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 107 (T107A)

Ref Sequence

ENSEMBL: ENSMUSP00000029438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029438] [ENSMUST00000106845] [ENSMUST00000118317] [ENSMUST00000137078]

AlphaFold

O88904

Predicted Effect

probably benign
Transcript: ENSMUST00000029438
AA Change: T107A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029438
Gene: ENSMUSG00000008730
AA Change: T107A

Domain	Start	End	E-Value	Type
low complexity region	3	21	N/A	INTRINSIC
low complexity region	87	99	N/A	INTRINSIC
low complexity region	151	170	N/A	INTRINSIC
S_TKc	190	518	3.39e-76	SMART
low complexity region	586	603	N/A	INTRINSIC
low complexity region	679	695	N/A	INTRINSIC
low complexity region	941	959	N/A	INTRINSIC
low complexity region	1047	1063	N/A	INTRINSIC
low complexity region	1095	1111	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106845
AA Change: T107A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102458
Gene: ENSMUSG00000008730
AA Change: T107A

Domain	Start	End	E-Value	Type
low complexity region	3	21	N/A	INTRINSIC
low complexity region	87	99	N/A	INTRINSIC
low complexity region	151	170	N/A	INTRINSIC
S_TKc	190	518	3.39e-76	SMART
low complexity region	586	603	N/A	INTRINSIC
low complexity region	679	695	N/A	INTRINSIC
low complexity region	896	914	N/A	INTRINSIC
low complexity region	1002	1018	N/A	INTRINSIC
low complexity region	1050	1066	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118317
AA Change: T107A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113998
Gene: ENSMUSG00000008730
AA Change: T107A

Domain	Start	End	E-Value	Type
low complexity region	3	21	N/A	INTRINSIC
low complexity region	87	99	N/A	INTRINSIC
low complexity region	151	170	N/A	INTRINSIC
S_TKc	190	518	3.39e-76	SMART
low complexity region	586	603	N/A	INTRINSIC
low complexity region	679	695	N/A	INTRINSIC
low complexity region	941	959	N/A	INTRINSIC
low complexity region	1047	1063	N/A	INTRINSIC
low complexity region	1095	1111	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137078
AA Change: T107A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000120396
Gene: ENSMUSG00000008730
AA Change: T107A

Domain	Start	End	E-Value	Type
low complexity region	3	21	N/A	INTRINSIC
low complexity region	87	99	N/A	INTRINSIC
low complexity region	151	170	N/A	INTRINSIC
S_TKc	190	518	3.39e-76	SMART
low complexity region	586	603	N/A	INTRINSIC
low complexity region	672	695	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile, do not develop spontaneous tumors, and are resistant to DMBA-induced skin tumor formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,780,785 (GRCm39)	D850G	probably benign	Het
Abcc9	T	A	6: 142,543,836 (GRCm39)	T1480S	possibly damaging	Het
Adgrb3	C	A	1: 25,592,783 (GRCm39)	V335F	probably damaging	Het
Agfg1	C	A	1: 82,859,958 (GRCm39)	A275D	probably benign	Het
Alms1	T	A	6: 85,655,001 (GRCm39)	C2713*	probably null	Het
Atp8a1	G	A	5: 67,906,492 (GRCm39)	A474V		Het
Baz1a	C	A	12: 54,963,339 (GRCm39)	S918I	probably damaging	Het
Bcl2l12	G	T	7: 44,643,674 (GRCm39)	T120K	possibly damaging	Het
Bcl6	G	T	16: 23,791,107 (GRCm39)	Q416K	possibly damaging	Het
Cdhr1	T	A	14: 36,820,055 (GRCm39)	I16F	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cilp	T	C	9: 65,185,381 (GRCm39)	V492A	probably damaging	Het
Crim1	CCGC	CC	17: 78,658,294 (GRCm39)		probably null	Het
Crppa	T	C	12: 36,552,073 (GRCm39)	V309A	probably benign	Het
Ctcfl	T	G	2: 172,947,881 (GRCm39)	T479P	probably damaging	Het
Dlx6	A	C	6: 6,863,581 (GRCm39)	M68L	probably benign	Het
Dnah7a	C	A	1: 53,568,026 (GRCm39)	V1857F	probably benign	Het
Dpy19l4	A	G	4: 11,265,806 (GRCm39)	V714A	probably benign	Het
Elovl7	T	A	13: 108,419,188 (GRCm39)	N273K	probably benign	Het
Fbxo22	A	G	9: 55,130,628 (GRCm39)	K299R	probably benign	Het
Fig4	A	G	10: 41,143,733 (GRCm39)	V242A	probably benign	Het
Fmo9	A	T	1: 166,505,189 (GRCm39)	M68K	probably damaging	Het
Fry	T	A	5: 150,302,403 (GRCm39)	Y537N	probably damaging	Het
Fryl	C	T	5: 73,222,563 (GRCm39)	W2006*	probably null	Het
Fzd8	T	A	18: 9,213,205 (GRCm39)	C96S	possibly damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gspt1	T	C	16: 11,050,535 (GRCm39)	D272G	possibly damaging	Het
Gzmf	A	T	14: 56,448,813 (GRCm39)	M1K	probably null	Het
Hsd3b9	T	G	3: 98,363,819 (GRCm39)	T9P	probably damaging	Het
Ighe	C	T	12: 113,233,107 (GRCm39)	C438Y		Het
Igkv4-50	T	A	6: 69,677,967 (GRCm39)	R46W		Het
Igsf3	T	A	3: 101,333,075 (GRCm39)	Y118N	probably damaging	Het
Itsn1	T	A	16: 91,612,408 (GRCm39)	Y266N	probably damaging	Het
Jph3	A	G	8: 122,511,854 (GRCm39)	E614G	probably damaging	Het
Klk1b8	T	A	7: 43,603,674 (GRCm39)	D170E	probably benign	Het
Ly6e	A	T	15: 74,830,153 (GRCm39)	K36*	probably null	Het
Map3k6	C	A	4: 132,968,467 (GRCm39)	A23E	probably damaging	Het
Med13l	T	A	5: 118,883,089 (GRCm39)	M1316K	probably benign	Het
Or5c1	T	C	2: 37,222,293 (GRCm39)	V178A	possibly damaging	Het
Or6c76b	A	G	10: 129,693,298 (GRCm39)	R304G	probably benign	Het
Or8u3-ps	A	T	2: 85,952,368 (GRCm39)	I34F	possibly damaging	Het
Pih1d2	T	A	9: 50,529,905 (GRCm39)	C45S	probably damaging	Het
Pik3r2	G	A	8: 71,223,737 (GRCm39)	S318L	possibly damaging	Het
Pknox1	T	C	17: 31,802,752 (GRCm39)	I9T	probably benign	Het
Pknox2	T	C	9: 36,835,041 (GRCm39)	I143V	probably damaging	Het
Polr1d	A	G	5: 147,015,488 (GRCm39)	Y57C	probably damaging	Het
Pum3	A	T	19: 27,376,336 (GRCm39)	D527E	probably benign	Het
Rars2	T	A	4: 34,654,819 (GRCm39)	H374Q	probably damaging	Het
Rassf9	G	A	10: 102,348,369 (GRCm39)		probably benign	Het
Rbl1	T	A	2: 157,016,742 (GRCm39)	H619L	possibly damaging	Het
Scamp4	T	C	10: 80,448,238 (GRCm39)	V153A	probably benign	Het
Sec23b	T	G	2: 144,420,286 (GRCm39)	I450S	probably benign	Het
Slc35b2	A	G	17: 45,877,910 (GRCm39)	I297V	probably benign	Het
Slc4a4	C	T	5: 89,327,525 (GRCm39)	T654I	probably damaging	Het
Slc6a5	T	A	7: 49,601,185 (GRCm39)	M662K	probably damaging	Het
Smarcad1	T	C	6: 65,071,321 (GRCm39)	Y589H	probably benign	Het
Spata31d1e	T	C	13: 59,890,012 (GRCm39)	T603A	probably benign	Het
Stab1	A	T	14: 30,883,069 (GRCm39)	F374I	probably benign	Het
Stat5a	C	T	11: 100,756,254 (GRCm39)	T158M	possibly damaging	Het
Trpc3	A	T	3: 36,675,503 (GRCm39)	Y878*	probably null	Het
Ubr1	T	A	2: 120,765,765 (GRCm39)	T491S	probably benign	Het
Uggt1	C	T	1: 36,255,212 (GRCm39)		probably null	Het
Ugt1a6a	T	A	1: 88,066,882 (GRCm39)	Y229*	probably null	Het
Vmn1r225	G	A	17: 20,722,911 (GRCm39)	W117*	probably null	Het
Vmn1r225	A	C	17: 20,722,912 (GRCm39)	K118Q	probably damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r116	T	C	17: 23,620,566 (GRCm39)	S767P	probably damaging	Het
Wdr90	AGAC	AGACGAC	17: 26,064,750 (GRCm39)		probably benign	Het
Ythdf3	C	T	3: 16,258,659 (GRCm39)	P280S	probably damaging	Het
Zbbx	A	G	3: 75,019,390 (GRCm39)	S107P	probably benign	Het
Zdhhc7	A	T	8: 120,813,425 (GRCm39)	V128E	probably benign	Het
Zfp235	A	G	7: 23,841,551 (GRCm39)	S657G	probably damaging	Het
Zfp442	T	A	2: 150,251,615 (GRCm39)	I96F	possibly damaging	Het
Zfp84	G	A	7: 29,476,297 (GRCm39)	E330K	probably damaging	Het

Other mutations in Hipk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Hipk1	APN	3	103,685,476 (GRCm39)	missense	possibly damaging	0.49
IGL01024:Hipk1	APN	3	103,667,952 (GRCm39)	missense	probably benign	0.31
IGL01069:Hipk1	APN	3	103,685,015 (GRCm39)	missense	possibly damaging	0.95
IGL01798:Hipk1	APN	3	103,668,875 (GRCm39)	missense	probably damaging	0.99
IGL01937:Hipk1	APN	3	103,651,320 (GRCm39)	missense	possibly damaging	0.71
IGL01945:Hipk1	APN	3	103,651,320 (GRCm39)	missense	possibly damaging	0.71
IGL02184:Hipk1	APN	3	103,666,066 (GRCm39)	missense	possibly damaging	0.96
IGL02430:Hipk1	APN	3	103,667,971 (GRCm39)	missense	probably damaging	1.00
IGL02603:Hipk1	APN	3	103,657,588 (GRCm39)	missense	probably damaging	0.97
IGL02632:Hipk1	APN	3	103,667,861 (GRCm39)	missense	probably benign	0.14
IGL02686:Hipk1	APN	3	103,685,333 (GRCm39)	missense	possibly damaging	0.82
IGL03293:Hipk1	APN	3	103,684,575 (GRCm39)	missense	possibly damaging	0.83
effluvient	UTSW	3	103,661,641 (GRCm39)	splice site	probably null
R0012:Hipk1	UTSW	3	103,670,996 (GRCm39)	missense	probably damaging	0.98
R0012:Hipk1	UTSW	3	103,670,996 (GRCm39)	missense	probably damaging	0.98
R0512:Hipk1	UTSW	3	103,667,890 (GRCm39)	missense	possibly damaging	0.95
R0741:Hipk1	UTSW	3	103,654,128 (GRCm39)	missense	probably benign	0.17
R0785:Hipk1	UTSW	3	103,661,641 (GRCm39)	splice site	probably null
R0786:Hipk1	UTSW	3	103,651,620 (GRCm39)	missense	probably benign
R0833:Hipk1	UTSW	3	103,661,612 (GRCm39)	missense	probably damaging	0.98
R0836:Hipk1	UTSW	3	103,661,612 (GRCm39)	missense	probably damaging	0.98
R1165:Hipk1	UTSW	3	103,668,840 (GRCm39)	missense	possibly damaging	0.62
R1322:Hipk1	UTSW	3	103,651,297 (GRCm39)	missense	probably damaging	1.00
R1384:Hipk1	UTSW	3	103,666,090 (GRCm39)	splice site	probably benign
R1521:Hipk1	UTSW	3	103,685,098 (GRCm39)	missense	probably benign	0.16
R1543:Hipk1	UTSW	3	103,685,480 (GRCm39)	missense	probably benign	0.00
R2085:Hipk1	UTSW	3	103,657,670 (GRCm39)	missense	probably benign	0.00
R2158:Hipk1	UTSW	3	103,667,854 (GRCm39)	missense	probably damaging	1.00
R2291:Hipk1	UTSW	3	103,668,926 (GRCm39)	missense	probably damaging	1.00
R3522:Hipk1	UTSW	3	103,651,430 (GRCm39)	missense	probably damaging	0.96
R4516:Hipk1	UTSW	3	103,657,688 (GRCm39)	missense	probably damaging	0.98
R4518:Hipk1	UTSW	3	103,657,688 (GRCm39)	missense	probably damaging	0.98
R4884:Hipk1	UTSW	3	103,651,338 (GRCm39)	missense	possibly damaging	0.47
R5023:Hipk1	UTSW	3	103,684,823 (GRCm39)	missense	probably damaging	1.00
R6045:Hipk1	UTSW	3	103,654,218 (GRCm39)	missense	probably benign	0.45
R6641:Hipk1	UTSW	3	103,660,721 (GRCm39)	missense	probably damaging	0.99
R6904:Hipk1	UTSW	3	103,684,828 (GRCm39)	missense	possibly damaging	0.90
R6925:Hipk1	UTSW	3	103,685,561 (GRCm39)	missense	unknown
R7169:Hipk1	UTSW	3	103,651,533 (GRCm39)	missense	probably benign
R7212:Hipk1	UTSW	3	103,684,926 (GRCm39)	nonsense	probably null
R7313:Hipk1	UTSW	3	103,685,574 (GRCm39)	missense	unknown
R7678:Hipk1	UTSW	3	103,667,866 (GRCm39)	missense	probably damaging	0.98
R8133:Hipk1	UTSW	3	103,660,710 (GRCm39)	missense	possibly damaging	0.83
R8154:Hipk1	UTSW	3	103,656,652 (GRCm39)	missense	probably damaging	1.00
R8166:Hipk1	UTSW	3	103,685,489 (GRCm39)	missense	possibly damaging	0.95
R8941:Hipk1	UTSW	3	103,660,743 (GRCm39)	missense	probably damaging	0.99
R8989:Hipk1	UTSW	3	103,668,960 (GRCm39)	missense	possibly damaging	0.80
R9236:Hipk1	UTSW	3	103,671,789 (GRCm39)	missense	probably damaging	1.00
R9302:Hipk1	UTSW	3	103,685,099 (GRCm39)	missense	probably benign	0.01
R9383:Hipk1	UTSW	3	103,684,883 (GRCm39)	missense	probably damaging	0.99
R9729:Hipk1	UTSW	3	103,668,890 (GRCm39)	missense	probably damaging	1.00
R9798:Hipk1	UTSW	3	103,651,431 (GRCm39)	missense	possibly damaging	0.88
Z1088:Hipk1	UTSW	3	103,671,860 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ACTCTTGGTGGTCACAGTGG -3'
(R):5'- TGTTTCAGGACAGAGCAGCAAC -3'

Sequencing Primer
(F):5'- CACAGTGGTGGTCGTGGC -3'
(R):5'- GAGCAGCAACGACAAATACTATAC -3'

Posted On

2022-05-16