Mutagenetix > Incidental Mutation

Incidental Mutation 'R8428:Hand2'

653604

Institutional Source

Beutler Lab

Gene Symbol

Hand2

Ensembl Gene

ENSMUSG00000038193

Gene Name

heart and neural crest derivatives expressed 2

Synonyms

Thing2, dHAND, Hed, Ehand2, bHLHa26

MMRRC Submission

067822-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8428 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57774018-57777552 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57775461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 174 (T174A)

Ref Sequence

ENSEMBL: ENSMUSP00000044983 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040104]

AlphaFold

Q61039

Predicted Effect

probably benign
Transcript: ENSMUST00000040104
AA Change: T174A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000044983
Gene: ENSMUSG00000038193
AA Change: T174A

Domain	Start	End	E-Value	Type
low complexity region	8	15	N/A	INTRINSIC
low complexity region	21	32	N/A	INTRINSIC
low complexity region	81	102	N/A	INTRINSIC
HLH	105	157	3.91e-17	SMART
low complexity region	172	184	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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 basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants have defects of the neural crest component of branchial and aortic arches and die from heart failure at embryonic day 10.5. Targeted branchial arch specific enhancer mutants show craniofacial defects and die perinatally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	A	G	10: 126,923,175 (GRCm39)	I670V	unknown	Het
Bcan	G	T	3: 87,904,405 (GRCm39)	T117K	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Cbx8	C	A	11: 118,929,754 (GRCm39)	V280F	probably damaging	Het
Ccdc117	A	T	11: 5,484,350 (GRCm39)	S163R	possibly damaging	Het
Ccdc17	A	T	4: 116,456,823 (GRCm39)	I509F	probably damaging	Het
Cdon	T	C	9: 35,403,163 (GRCm39)	V1091A	probably benign	Het
Cntnap5b	C	T	1: 100,311,310 (GRCm39)	T972I	probably damaging	Het
Dlg2	T	C	7: 90,740,240 (GRCm39)	L9P	possibly damaging	Het
Dnah6	T	A	6: 73,051,634 (GRCm39)	R3053S	probably benign	Het
Dnah7a	T	A	1: 53,512,112 (GRCm39)	N2983I	probably damaging	Het
Dnah7c	T	C	1: 46,711,536 (GRCm39)	Y2588H	probably damaging	Het
Dpysl5	A	G	5: 30,902,811 (GRCm39)	D81G	probably damaging	Het
Dscaml1	A	G	9: 45,653,884 (GRCm39)	D1387G	probably benign	Het
Exd1	G	T	2: 119,369,348 (GRCm39)	T89K	possibly damaging	Het
Ezh2	T	A	6: 47,522,745 (GRCm39)	R364*	probably null	Het
Fam161b	C	T	12: 84,404,369 (GRCm39)	D104N	probably benign	Het
Fbxw8	C	A	5: 118,215,763 (GRCm39)	V416L	probably benign	Het
Flnc	A	T	6: 29,450,849 (GRCm39)	D1499V	probably benign	Het
Fmc1	A	T	6: 38,516,115 (GRCm39)	R54*	probably null	Het
Fzr1	A	G	10: 81,206,942 (GRCm39)	F61S	probably damaging	Het
Get4	T	G	5: 139,251,393 (GRCm39)	C160G	probably benign	Het
Gm32742	G	A	9: 51,055,675 (GRCm39)	R1330*	probably null	Het
Gnat3	G	A	5: 18,220,312 (GRCm39)	A225T	possibly damaging	Het
Gucy2c	A	G	6: 136,704,892 (GRCm39)	Y541H	probably damaging	Het
Helb	T	C	10: 119,927,522 (GRCm39)	T863A	probably damaging	Het
Hoxa7	A	T	6: 52,194,993 (GRCm39)	V2D	unknown	Het
Ifi44	G	A	3: 151,444,978 (GRCm39)	R325*	probably null	Het
Igfn1	C	T	1: 135,895,520 (GRCm39)	G1682E	probably damaging	Het
Itch	A	G	2: 155,010,627 (GRCm39)	N32D	probably benign	Het
Kif26b	T	C	1: 178,744,923 (GRCm39)	V1673A	probably benign	Het
Map1a	A	T	2: 121,135,418 (GRCm39)	D2078V	probably benign	Het
Mgat4b	G	T	11: 50,121,512 (GRCm39)	V35L	probably benign	Het
Micu3	G	A	8: 40,761,205 (GRCm39)	M38I	probably benign	Het
Myo15a	A	T	11: 60,387,241 (GRCm39)	H706L	probably damaging	Het
Ndc1	A	G	4: 107,226,017 (GRCm39)	T42A	probably benign	Het
Nfat5	T	A	8: 108,095,152 (GRCm39)	M1131K	probably damaging	Het
Nop14	G	A	5: 34,798,784 (GRCm39)	S648L	probably damaging	Het
Or51k1	G	T	7: 103,661,632 (GRCm39)	Y92*	probably null	Het
Otogl	A	G	10: 107,634,597 (GRCm39)	V1413A	probably damaging	Het
Palb2	T	A	7: 121,711,224 (GRCm39)	M967L	possibly damaging	Het
Pira12	G	A	7: 3,898,257 (GRCm39)	T355I	probably benign	Het
Ppa2	A	G	3: 133,053,904 (GRCm39)	K198R	probably damaging	Het
Prokr1	T	C	6: 87,565,756 (GRCm39)	T30A	probably benign	Het
Prss50	C	T	9: 110,687,128 (GRCm39)	R24C	unknown	Het
Rbm17	T	C	2: 11,605,441 (GRCm39)	T38A	possibly damaging	Het
Rps6ka5	G	A	12: 100,541,500 (GRCm39)	Q420*	probably null	Het
Senp6	G	T	9: 80,025,794 (GRCm39)	R448L	probably damaging	Het
Senp7	T	C	16: 55,999,391 (GRCm39)	I838T	probably damaging	Het
Sf3b2	C	T	19: 5,337,242 (GRCm39)	S329N	possibly damaging	Het
Slc13a4	A	T	6: 35,245,814 (GRCm39)	D610E	probably benign	Het
Slc24a2	A	G	4: 87,145,337 (GRCm39)	L239P	probably damaging	Het
Slc39a5	T	A	10: 128,232,884 (GRCm39)	H389L	probably damaging	Het
Syt4	A	G	18: 31,577,072 (GRCm39)	L94P	probably damaging	Het
Tgm5	A	G	2: 120,879,356 (GRCm39)	V560A	probably benign	Het
Thoc5	A	G	11: 4,876,115 (GRCm39)	T623A	probably damaging	Het
Tm7sf2	C	T	19: 6,113,074 (GRCm39)	V376I	probably benign	Het
Tmem268	T	A	4: 63,496,141 (GRCm39)	V194E	probably damaging	Het
Tpr	C	A	1: 150,290,564 (GRCm39)	R798S	probably damaging	Het
Trpv5	G	T	6: 41,630,182 (GRCm39)	T685K	possibly damaging	Het
Ttn	A	T	2: 76,584,774 (GRCm39)	N22141K	probably damaging	Het
Txnrd2	T	C	16: 18,275,048 (GRCm39)	I353T	unknown	Het
Upk1a	A	G	7: 30,303,043 (GRCm39)	Y252H	probably damaging	Het
Vmn2r118	A	G	17: 55,915,642 (GRCm39)	I436T	probably benign	Het
Vmn2r76	T	A	7: 85,874,479 (GRCm39)	I833F	possibly damaging	Het
Zfp277	T	C	12: 40,379,577 (GRCm39)	H319R	probably damaging	Het

Other mutations in Hand2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3874:Hand2	UTSW	8	57,775,011 (GRCm39)	missense	probably benign	0.00
R5287:Hand2	UTSW	8	57,775,080 (GRCm39)	missense	probably damaging	0.98
R6534:Hand2	UTSW	8	57,775,071 (GRCm39)	missense	probably benign	0.19
R7552:Hand2	UTSW	8	57,775,272 (GRCm39)	missense	probably damaging	1.00
R8245:Hand2	UTSW	8	57,774,994 (GRCm39)	missense	probably damaging	0.99
R8730:Hand2	UTSW	8	57,775,468 (GRCm39)	missense	probably benign	0.00
R9077:Hand2	UTSW	8	57,776,836 (GRCm39)	missense	probably damaging	0.99
Z1177:Hand2	UTSW	8	57,775,048 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCAGGACTCAGAGCATCAAC -3'
(R):5'- GACATTCTGCTGCTGACATCC -3'

Sequencing Primer
(F):5'- GAGCATCAACAGCGCCTTCG -3'
(R):5'- GTCTTGCTTTTGAGGAAACCATC -3'

Posted On

2020-10-20