Mutagenetix > Incidental Mutation

Incidental Mutation 'R7834:Krt9'

605874

Institutional Source

Beutler Lab

Gene Symbol

Krt9

Ensembl Gene

ENSMUSG00000051617

Gene Name

keratin 9

Synonyms

Krt1-9, K9

MMRRC Submission

045888-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7834 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100186781-100193246 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100192666 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 180 (T180A)

Ref Sequence

ENSEMBL: ENSMUSP00000055255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059707]

AlphaFold

Q6RHW0

Predicted Effect

probably benign
Transcript: ENSMUST00000059707
AA Change: T180A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000055255
Gene: ENSMUSG00000051617
AA Change: T180A

Domain	Start	End	E-Value	Type
low complexity region	6	125	N/A	INTRINSIC
Filament	130	442	2.96e-124	SMART
low complexity region	462	716	N/A	INTRINSIC
low complexity region	721	737	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

100% (75/75)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit hyperpigmented calluses on the footpad with acanthosis, hyperkeratosis, thick epidermis and increased keratinocyte proliferation. [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
Abcb11	A	T	2: 69,284,724 (GRCm38)	I626N	probably damaging	Het
Abcc12	C	T	8: 86,558,230 (GRCm38)	C252Y	probably damaging	Het
Abcc12	T	A	8: 86,531,550 (GRCm38)	Y779F	possibly damaging	Het
Adam22	A	T	5: 8,130,535 (GRCm38)	C521S	probably damaging	Het
Adcy5	C	A	16: 35,157,200 (GRCm38)	H368N	probably benign	Het
Akap13	T	A	7: 75,742,642 (GRCm38)	I2411N	possibly damaging	Het
Ankrd12	A	G	17: 65,987,352 (GRCm38)	F339S	probably damaging	Het
Bmp1	T	A	14: 70,508,565 (GRCm38)	R153W	probably damaging	Het
Bmp6	T	C	13: 38,469,667 (GRCm38)	F237L	probably damaging	Het
Cacna1c	A	G	6: 118,610,581 (GRCm38)	S1628P		Het
Ccdc141	T	C	2: 77,059,545 (GRCm38)	R468G	possibly damaging	Het
Cdc40	A	T	10: 40,882,949 (GRCm38)	S43T	probably benign	Het
Celf4	A	G	18: 25,753,485 (GRCm38)	M48T	probably benign	Het
Clec4g	A	T	8: 3,716,500 (GRCm38)	M267K	probably damaging	Het
Col6a1	G	T	10: 76,709,928 (GRCm38)	S903R	unknown	Het
Creg2	A	G	1: 39,650,634 (GRCm38)	F103L	probably damaging	Het
Cul9	T	C	17: 46,525,704 (GRCm38)		probably null	Het
Dchs1	G	A	7: 105,765,567 (GRCm38)	A756V	probably benign	Het
Diaph1	G	A	18: 37,853,709 (GRCm38)		probably benign	Het
Dmxl1	G	A	18: 49,920,977 (GRCm38)	G2550D	probably damaging	Het
Dst	G	T	1: 34,194,105 (GRCm38)	R3396I	probably benign	Het
Dync2h1	T	C	9: 7,118,953 (GRCm38)	T2171A	probably benign	Het
Fgd2	C	T	17: 29,364,951 (GRCm38)	T113M	probably damaging	Het
Galnt6	G	T	15: 100,714,103 (GRCm38)	S219R	probably damaging	Het
Gbp6	T	A	5: 105,273,265 (GRCm38)	E558V	probably benign	Het
Gnas	A	T	2: 174,298,990 (GRCm38)	K377*	probably null	Het
Hars2	T	C	18: 36,789,581 (GRCm38)	I389T	probably damaging	Het
Hsp90ab1	T	C	17: 45,571,165 (GRCm38)	I123V	possibly damaging	Het
Igkv6-14	A	T	6: 70,435,008 (GRCm38)	N97K	possibly damaging	Het
Isg20	T	C	7: 78,920,119 (GRCm38)	L168P	probably damaging	Het
Kcna1	C	T	6: 126,642,740 (GRCm38)	D206N	probably benign	Het
Kcnn3	A	G	3: 89,521,354 (GRCm38)	I296V	probably damaging	Het
Kif18a	G	A	2: 109,296,774 (GRCm38)	R351H	probably damaging	Het
Klra5	A	T	6: 129,899,290 (GRCm38)		probably null	Het
Lhx8	T	C	3: 154,311,537 (GRCm38)	S323G	probably null	Het
Lpcat2	T	A	8: 92,918,101 (GRCm38)	L506H	possibly damaging	Het
Map2	A	G	1: 66,416,488 (GRCm38)	E1447G	probably damaging	Het
Mapk8ip2	A	T	15: 89,461,373 (GRCm38)	I779F	probably damaging	Het
Mcmdc2	G	A	1: 9,912,174 (GRCm38)		probably null	Het
Mrps15	G	A	4: 126,055,389 (GRCm38)	E217K	probably damaging	Het
Muc5b	G	A	7: 141,859,070 (GRCm38)	G1918R	unknown	Het
Mug2	T	C	6: 122,036,282 (GRCm38)	I336T	probably benign	Het
Myh10	T	C	11: 68,785,826 (GRCm38)	V878A	probably damaging	Het
Nomo1	T	C	7: 46,056,738 (GRCm38)		probably null	Het
Ogdhl	T	A	14: 32,340,709 (GRCm38)	I584N	probably benign	Het
Pdzrn3	G	A	6: 101,151,195 (GRCm38)	R837C	probably damaging	Het
Pkhd1	A	G	1: 20,312,049 (GRCm38)	M2626T	probably benign	Het
Plat	G	T	8: 22,772,232 (GRCm38)	G91W	probably damaging	Het
Pml	C	A	9: 58,234,685 (GRCm38)	R288L	probably benign	Het
Pnliprp2	T	C	19: 58,774,159 (GRCm38)	S399P	probably benign	Het
Prelp	T	C	1: 133,914,772 (GRCm38)	T212A	probably damaging	Het
Ptpn13	T	A	5: 103,462,148 (GRCm38)	S4T	probably damaging	Het
Ptprb	A	C	10: 116,339,424 (GRCm38)	E821A	probably benign	Het
Rabgap1	T	C	2: 37,469,407 (GRCm38)		probably benign	Het
Reln	C	T	5: 22,039,635 (GRCm38)	V782M	possibly damaging	Het
Rpl3l	T	C	17: 24,733,463 (GRCm38)	V52A	possibly damaging	Het
Rrp1b	T	C	17: 32,051,724 (GRCm38)	V219A	probably benign	Het
Rtn1	T	A	12: 72,304,032 (GRCm38)	I468F	probably damaging	Het
Safb	T	A	17: 56,593,881 (GRCm38)	M129K	unknown	Het
Sall1	C	A	8: 89,033,374 (GRCm38)	S34I	probably benign	Het
Slc2a8	C	T	2: 32,976,907 (GRCm38)	G227D	probably damaging	Het
Slco4a1	G	T	2: 180,465,677 (GRCm38)	V295L	probably benign	Het
Slfn5	A	T	11: 82,960,452 (GRCm38)	Q525L	possibly damaging	Het
Speg	C	T	1: 75,384,927 (GRCm38)	T195M	probably damaging	Het
Syne2	A	T	12: 75,967,247 (GRCm38)	T3071S	probably benign	Het
Syngr1	G	T	15: 80,111,617 (GRCm38)	W119L	probably damaging	Het
Tenm2	A	G	11: 36,024,854 (GRCm38)	L1951P	probably damaging	Het
Ulk4	C	T	9: 121,263,668 (GRCm38)	E168K	possibly damaging	Het
Ush2a	G	A	1: 188,733,440 (GRCm38)	W2735*	probably null	Het
Usp17lb	T	A	7: 104,841,511 (GRCm38)	T70S	probably damaging	Het
Vmn2r6	T	G	3: 64,538,022 (GRCm38)	N761H	probably damaging	Het
Vps13d	A	T	4: 145,108,573 (GRCm38)	I2741K		Het
Wdr38	A	T	2: 39,000,184 (GRCm38)	Q110L	possibly damaging	Het
Zfp872	A	G	9: 22,200,110 (GRCm38)	K295R	probably damaging	Het

Other mutations in Krt9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00725:Krt9	APN	11	100,190,006 (GRCm38)	missense	probably damaging	1.00
IGL01695:Krt9	APN	11	100,191,437 (GRCm38)	critical splice donor site	probably null
IGL02383:Krt9	APN	11	100,191,215 (GRCm38)	missense	probably damaging	1.00
IGL02529:Krt9	APN	11	100,189,966 (GRCm38)	missense	probably damaging	0.99
IGL02819:Krt9	APN	11	100,191,520 (GRCm38)	missense	probably damaging	1.00
droplet	UTSW	11	100,190,788 (GRCm38)	missense	probably damaging	1.00
R5944_Krt9_487	UTSW	11	100,188,439 (GRCm38)	missense	unknown
G1citation:Krt9	UTSW	11	100,189,077 (GRCm38)	small deletion	probably benign
R1356:Krt9	UTSW	11	100,188,814 (GRCm38)	small insertion	probably benign
R1397:Krt9	UTSW	11	100,192,638 (GRCm38)	missense	probably damaging	1.00
R1498:Krt9	UTSW	11	100,188,369 (GRCm38)	nonsense	probably null
R1772:Krt9	UTSW	11	100,191,305 (GRCm38)	missense	probably damaging	0.99
R1871:Krt9	UTSW	11	100,190,788 (GRCm38)	missense	probably damaging	1.00
R1883:Krt9	UTSW	11	100,188,697 (GRCm38)	missense	unknown
R1985:Krt9	UTSW	11	100,189,991 (GRCm38)	missense	probably benign	0.02
R2056:Krt9	UTSW	11	100,191,495 (GRCm38)	missense	probably damaging	1.00
R2253:Krt9	UTSW	11	100,190,859 (GRCm38)	missense	possibly damaging	0.83
R2305:Krt9	UTSW	11	100,193,116 (GRCm38)	missense	unknown
R2875:Krt9	UTSW	11	100,189,205 (GRCm38)	nonsense	probably null
R3813:Krt9	UTSW	11	100,189,677 (GRCm38)	missense	probably damaging	1.00
R3874:Krt9	UTSW	11	100,190,849 (GRCm38)	missense	probably damaging	1.00
R4157:Krt9	UTSW	11	100,188,649 (GRCm38)	missense	unknown
R4762:Krt9	UTSW	11	100,190,849 (GRCm38)	missense	probably damaging	1.00
R4873:Krt9	UTSW	11	100,190,037 (GRCm38)	missense	probably benign	0.06
R4875:Krt9	UTSW	11	100,190,037 (GRCm38)	missense	probably benign	0.06
R4923:Krt9	UTSW	11	100,189,077 (GRCm38)	small deletion	probably benign
R4973:Krt9	UTSW	11	100,188,712 (GRCm38)	missense	unknown
R5153:Krt9	UTSW	11	100,191,242 (GRCm38)	missense	probably damaging	0.99
R5658:Krt9	UTSW	11	100,190,767 (GRCm38)	missense	probably damaging	0.98
R5696:Krt9	UTSW	11	100,189,077 (GRCm38)	small deletion	probably benign
R5944:Krt9	UTSW	11	100,188,439 (GRCm38)	missense	unknown
R6147:Krt9	UTSW	11	100,188,839 (GRCm38)	missense	unknown
R6403:Krt9	UTSW	11	100,189,659 (GRCm38)	missense	probably damaging	0.99
R6476:Krt9	UTSW	11	100,190,814 (GRCm38)	missense	probably damaging	1.00
R6822:Krt9	UTSW	11	100,189,077 (GRCm38)	small deletion	probably benign
R7159:Krt9	UTSW	11	100,189,077 (GRCm38)	small deletion	probably benign
R7174:Krt9	UTSW	11	100,189,077 (GRCm38)	small deletion	probably benign
R7203:Krt9	UTSW	11	100,190,791 (GRCm38)	missense	probably damaging	1.00
R7805:Krt9	UTSW	11	100,192,696 (GRCm38)	missense	possibly damaging	0.85
R7817:Krt9	UTSW	11	100,189,077 (GRCm38)	small deletion	probably benign
R7822:Krt9	UTSW	11	100,189,077 (GRCm38)	small deletion	probably benign
R7947:Krt9	UTSW	11	100,189,077 (GRCm38)	small deletion	probably benign
R7977:Krt9	UTSW	11	100,189,077 (GRCm38)	small deletion	probably benign
R8943:Krt9	UTSW	11	100,189,077 (GRCm38)	small deletion	probably benign
R9092:Krt9	UTSW	11	100,189,077 (GRCm38)	small deletion	probably benign
R9099:Krt9	UTSW	11	100,189,077 (GRCm38)	small deletion	probably benign
R9203:Krt9	UTSW	11	100,188,908 (GRCm38)	missense	unknown
R9313:Krt9	UTSW	11	100,188,721 (GRCm38)	missense	unknown
R9361:Krt9	UTSW	11	100,189,077 (GRCm38)	small deletion	probably benign
R9370:Krt9	UTSW	11	100,189,077 (GRCm38)	small deletion	probably benign
R9438:Krt9	UTSW	11	100,188,998 (GRCm38)	missense	unknown
R9448:Krt9	UTSW	11	100,189,077 (GRCm38)	small deletion	probably benign
R9455:Krt9	UTSW	11	100,189,077 (GRCm38)	small deletion	probably benign
R9620:Krt9	UTSW	11	100,188,360 (GRCm38)	missense	unknown
R9676:Krt9	UTSW	11	100,189,077 (GRCm38)	small deletion	probably benign
R9719:Krt9	UTSW	11	100,189,077 (GRCm38)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCAAGCCTCTAAGACCTTAG -3'
(R):5'- AGGCGGTATTCTGAACACC -3'

Sequencing Primer
(F):5'- GACCTTAGAAACCAAATGCAAGTTTG -3'
(R):5'- CGGTATTCTGAACACCAATGAG -3'

Posted On

2019-12-20