Mutagenetix > Incidental Mutation

Incidental Mutation 'R6534:Hand2'

520283

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

044660-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6534 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57774018-57777552 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 57775071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 44 (H44N)

Ref Sequence

ENSEMBL: ENSMUSP00000044983 (fasta)

Gene Model

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

AlphaFold

Q61039

Predicted Effect

probably benign
Transcript: ENSMUST00000040104
AA Change: H44N

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000044983
Gene: ENSMUSG00000038193
AA Change: H44N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185946

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189169

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223675

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225933

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225862

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225650

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226014

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (37/37)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	A	T	7: 97,875,655 (GRCm39)	L142M	probably benign	Het
Adgrb2	T	C	4: 129,916,012 (GRCm39)	F1435L	probably damaging	Het
Anapc13	T	C	9: 102,511,292 (GRCm39)	L60P	probably damaging	Het
Apaf1	T	C	10: 90,891,862 (GRCm39)	D497G	probably damaging	Het
Arpc1b	A	T	5: 145,059,377 (GRCm39)	I34F	probably damaging	Het
Atp2a2	A	T	5: 122,595,261 (GRCm39)	W1030R	possibly damaging	Het
Cdk5rap2	T	C	4: 70,273,050 (GRCm39)	E241G	probably damaging	Het
Cyp4a14	T	A	4: 115,347,156 (GRCm39)		probably null	Het
Ddx10	A	G	9: 53,134,988 (GRCm39)	Y399H	probably damaging	Het
Dnah9	T	C	11: 65,846,074 (GRCm39)	E2988G	probably damaging	Het
Dock10	T	C	1: 80,481,388 (GRCm39)	I536M	probably benign	Het
Drc7	T	C	8: 95,797,910 (GRCm39)	Y443H	probably damaging	Het
Ecel1	A	G	1: 87,082,564 (GRCm39)	S50P	probably benign	Het
Esco1	T	A	18: 10,594,794 (GRCm39)	Q164L	possibly damaging	Het
Exosc7	A	G	9: 122,961,077 (GRCm39)	D248G	probably benign	Het
Galnt3	A	G	2: 65,932,875 (GRCm39)	L201P	probably damaging	Het
Kcnq1	C	T	7: 142,748,064 (GRCm39)	P411S	probably benign	Het
Lonp2	A	G	8: 87,443,086 (GRCm39)	D429G	probably benign	Het
Magi3	A	G	3: 103,992,536 (GRCm39)	I312T	possibly damaging	Het
Mansc4	A	T	6: 146,988,371 (GRCm39)	I31N	probably damaging	Het
Mill2	T	A	7: 18,590,521 (GRCm39)	D200E	possibly damaging	Het
Or5d47	G	A	2: 87,804,385 (GRCm39)	A208V	probably benign	Het
Pde4d	A	G	13: 109,769,435 (GRCm39)	K41R	probably benign	Het
Pik3r5	G	A	11: 68,381,443 (GRCm39)	D210N	possibly damaging	Het
Plcl1	C	T	1: 55,735,907 (GRCm39)	T416I	probably damaging	Het
Plekhd1	T	C	12: 80,754,031 (GRCm39)	Y166H	probably damaging	Het
Prrc1	A	G	18: 57,522,346 (GRCm39)	T393A	probably damaging	Het
Scaper	A	T	9: 55,791,260 (GRCm39)	C213S	probably benign	Het
Sfxn4	T	C	19: 60,827,461 (GRCm39)	I298V	probably damaging	Het
Slc36a2	A	T	11: 55,075,693 (GRCm39)	D31E	probably benign	Het
Stra6l	G	A	4: 45,860,041 (GRCm39)		probably null	Het
Tnpo3	A	T	6: 29,572,702 (GRCm39)		probably null	Het
Tonsl	A	G	15: 76,513,877 (GRCm39)	Y1231H	probably damaging	Het
Ush2a	C	A	1: 188,183,999 (GRCm39)	Y1434*	probably null	Het
Zfp69	T	C	4: 120,788,394 (GRCm39)	Y307C	probably benign	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
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
R8428:Hand2	UTSW	8	57,775,461 (GRCm39)	missense	probably benign	0.00
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'- ATCTTCGGAGTCAGGAGTCC -3'
(R):5'- CTGTTGATGCTCTGAGTCCTGC -3'

Sequencing Primer
(F):5'- TCTGCCTGGTCGCTGCAG -3'
(R):5'- TCTGAGTCCTGCGCCGC -3'

Posted On

2018-06-06