Mutagenetix > Incidental Mutation

Incidental Mutation 'R1478:Hmx3'

165626

Institutional Source

Beutler Lab

Gene Symbol

Hmx3

Ensembl Gene

ENSMUSG00000040148

Gene Name

H6 homeobox 3

Synonyms

Nkx5-1, Nkx5.1

MMRRC Submission

039531-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.800) question?

Stock #

R1478 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

131144596-131146654 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131145826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 178 (E178G)

Ref Sequence

ENSEMBL: ENSMUSP00000039018 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046093] [ENSMUST00000124096] [ENSMUST00000183219]

AlphaFold

P42581

Predicted Effect

probably damaging
Transcript: ENSMUST00000046093
AA Change: E178G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039018
Gene: ENSMUSG00000040148
AA Change: E178G

Domain	Start	End	E-Value	Type
low complexity region	14	26	N/A	INTRINSIC
low complexity region	44	52	N/A	INTRINSIC
low complexity region	57	84	N/A	INTRINSIC
low complexity region	173	208	N/A	INTRINSIC
HOX	227	289	1.78e-23	SMART
low complexity region	315	325	N/A	INTRINSIC
low complexity region	337	356	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183219

SMART Domains

Protein: ENSMUSP00000138799
Gene: ENSMUSG00000050100

Domain	Start	End	E-Value	Type
low complexity region	46	58	N/A	INTRINSIC
low complexity region	90	103	N/A	INTRINSIC
HOX	149	211	1.31e-21	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.7%
20x: 90.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for targeted null mutations exhibit hyperactivity and circling behavior, and severe vestibular defects. Mutant females are infertile due to failure of implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	A	5: 125,580,287 (GRCm39)	I204N	possibly damaging	Het
Acaca	A	G	11: 84,263,453 (GRCm39)	T2025A	probably damaging	Het
B4galt3	C	T	1: 171,103,938 (GRCm39)	R170C	probably benign	Het
BC028528	T	C	3: 95,799,271 (GRCm39)		probably null	Het
Ccdc73	A	T	2: 104,737,955 (GRCm39)	Q17L	possibly damaging	Het
Ccdc73	A	G	2: 104,745,012 (GRCm39)	T50A	possibly damaging	Het
Ccdc83	T	C	7: 89,908,677 (GRCm39)	D19G	probably damaging	Het
Ccn6	G	A	10: 39,029,239 (GRCm39)	R230W	probably damaging	Het
Cct8l1	T	C	5: 25,722,767 (GRCm39)	V494A	probably benign	Het
Chd1	T	C	17: 15,959,769 (GRCm39)	F663L	probably damaging	Het
Chn2	A	T	6: 54,270,065 (GRCm39)	E319V	probably damaging	Het
Cnnm1	T	C	19: 43,460,295 (GRCm39)	V679A	probably damaging	Het
Cntn6	C	T	6: 104,753,389 (GRCm39)	T447I	probably benign	Het
Cyp3a11	G	T	5: 145,795,581 (GRCm39)	L457I	probably benign	Het
Dera	T	A	6: 137,807,193 (GRCm39)	S214T	possibly damaging	Het
Dmtf1	A	G	5: 9,171,404 (GRCm39)	V501A	possibly damaging	Het
Dnpep	A	G	1: 75,292,671 (GRCm39)	V114A	probably damaging	Het
Dscam	C	T	16: 96,592,110 (GRCm39)	V722M	probably benign	Het
Dsp	A	G	13: 38,365,114 (GRCm39)	N499S	probably damaging	Het
Ecd	A	T	14: 20,396,725 (GRCm39)	Y53*	probably null	Het
Esyt3	T	C	9: 99,200,119 (GRCm39)	T692A	probably benign	Het
Fat1	T	A	8: 45,478,659 (GRCm39)	N2545K	probably damaging	Het
Fndc3a	A	G	14: 72,795,072 (GRCm39)		probably null	Het
Fscn3	A	G	6: 28,430,567 (GRCm39)	M246V	probably benign	Het
Gde1	G	T	7: 118,291,007 (GRCm39)	T106K	probably benign	Het
Gjc2	A	G	11: 59,068,434 (GRCm39)	I16T	possibly damaging	Het
Hacd4	A	T	4: 88,341,260 (GRCm39)	M168K	probably damaging	Het
Htt	A	G	5: 34,961,171 (GRCm39)	Y266C	probably damaging	Het
Jkampl	A	T	6: 73,446,039 (GRCm39)	L170Q	probably damaging	Het
Kif27	G	T	13: 58,451,359 (GRCm39)	R990S	probably damaging	Het
Krtap22-2	A	T	16: 88,807,534 (GRCm39)	Y21*	probably null	Het
Lrrc41	T	A	4: 115,952,405 (GRCm39)	L661*	probably null	Het
Lrrc63	T	C	14: 75,363,424 (GRCm39)	T236A	probably benign	Het
Mmp13	T	C	9: 7,272,892 (GRCm39)	L84P	probably damaging	Het
Myh8	T	C	11: 67,183,551 (GRCm39)	I754T	probably benign	Het
Neb	A	C	2: 52,065,619 (GRCm39)	D5961E	probably benign	Het
Nlrx1	T	C	9: 44,175,374 (GRCm39)	H134R	probably benign	Het
Npepps	A	T	11: 97,117,673 (GRCm39)	M542K	probably benign	Het
Nup160	C	T	2: 90,509,743 (GRCm39)		probably benign	Het
Or3a1c	T	A	11: 74,045,963 (GRCm39)		probably null	Het
Or8g33	T	A	9: 39,337,888 (GRCm39)	T160S	possibly damaging	Het
Pikfyve	T	C	1: 65,302,136 (GRCm39)		probably null	Het
Ppp6r1	A	T	7: 4,643,377 (GRCm39)		probably null	Het
Prss33	A	G	17: 24,054,072 (GRCm39)	W45R	probably damaging	Het
Ptprf	A	T	4: 118,069,302 (GRCm39)	Y980*	probably null	Het
Qrich1	T	C	9: 108,436,531 (GRCm39)	V743A	probably benign	Het
Rev3l	G	A	10: 39,659,329 (GRCm39)		probably null	Het
Samd9l	A	T	6: 3,376,369 (GRCm39)	N297K	probably benign	Het
Sap130	A	G	18: 31,813,527 (GRCm39)	H528R	possibly damaging	Het
Slc9b2	T	C	3: 135,031,863 (GRCm39)	V241A	probably benign	Het
Snx14	A	T	9: 88,276,581 (GRCm39)	V577E	probably benign	Het
Srrm2	T	C	17: 24,034,876 (GRCm39)	S507P	probably benign	Het
Stat2	A	G	10: 128,117,969 (GRCm39)		probably null	Het
Susd5	T	C	9: 113,925,752 (GRCm39)	F545S	probably benign	Het
Tafa2	T	A	10: 123,429,401 (GRCm39)	M5K	possibly damaging	Het
Tnnt2	A	G	1: 135,775,764 (GRCm39)	T107A	probably benign	Het
Trappc6b	T	A	12: 59,094,953 (GRCm39)	I41F	possibly damaging	Het
Ttn	T	A	2: 76,682,417 (GRCm39)		probably benign	Het
Vmn1r88	A	C	7: 12,911,878 (GRCm39)	D78A	probably damaging	Het
Xpc	C	T	6: 91,485,510 (GRCm39)	D122N	possibly damaging	Het
Xpo1	C	T	11: 23,241,623 (GRCm39)	A890V	probably damaging	Het
Zfp493	A	G	13: 67,934,680 (GRCm39)	H211R	probably damaging	Het
Zfp958	A	T	8: 4,679,190 (GRCm39)	H405L	probably damaging	Het

Other mutations in Hmx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01962:Hmx3	APN	7	131,146,000 (GRCm39)	missense	probably damaging	1.00
IGL02731:Hmx3	APN	7	131,145,692 (GRCm39)	splice site	probably null
gehring	UTSW	7	131,146,057 (GRCm39)	nonsense	probably null
R0924:Hmx3	UTSW	7	131,144,813 (GRCm39)	missense	probably benign	0.00
R0930:Hmx3	UTSW	7	131,144,813 (GRCm39)	missense	probably benign	0.00
R0960:Hmx3	UTSW	7	131,145,043 (GRCm39)	missense	probably benign	0.18
R2126:Hmx3	UTSW	7	131,146,278 (GRCm39)	missense	possibly damaging	0.86
R4667:Hmx3	UTSW	7	131,146,111 (GRCm39)	missense	possibly damaging	0.91
R5267:Hmx3	UTSW	7	131,145,898 (GRCm39)	missense	probably benign	0.15
R5326:Hmx3	UTSW	7	131,146,146 (GRCm39)	nonsense	probably null
R5386:Hmx3	UTSW	7	131,146,033 (GRCm39)	missense	probably damaging	1.00
R5779:Hmx3	UTSW	7	131,146,057 (GRCm39)	nonsense	probably null
R6326:Hmx3	UTSW	7	131,144,734 (GRCm39)	intron	probably benign
R7944:Hmx3	UTSW	7	131,146,111 (GRCm39)	missense	probably damaging	1.00
R9408:Hmx3	UTSW	7	131,146,102 (GRCm39)	missense	probably damaging	1.00
X0050:Hmx3	UTSW	7	131,145,880 (GRCm39)	missense	probably benign	0.01
Z1177:Hmx3	UTSW	7	131,144,849 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGCAGGGTTGAACCTTAGCAGTG -3'
(R):5'- GCGTTTCATGTCGAATGTGGACTCG -3'

Sequencing Primer
(F):5'- TCGCTCAAGGCTGTGTC -3'
(R):5'- TCGAGCTGGAAGACCTGG -3'

Posted On

2014-03-28