Mutagenetix > Incidental Mutation

Incidental Mutation 'R6317:Bhlhe22'

510016

Institutional Source

Beutler Lab

Gene Symbol

Bhlhe22

Ensembl Gene

ENSMUSG00000025128

Gene Name

basic helix-loop-helix family, member e22

Synonyms

Bhlhb5, Beta3

MMRRC Submission

044417-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6317 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18108489-18111678 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18109778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 276 (E276G)

Ref Sequence

ENSEMBL: ENSMUSP00000026120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026120]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026120
AA Change: E276G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026120
Gene: ENSMUSG00000025128
AA Change: E276G

Domain	Start	End	E-Value	Type
low complexity region	71	106	N/A	INTRINSIC
low complexity region	155	172	N/A	INTRINSIC
low complexity region	185	212	N/A	INTRINSIC
HLH	222	276	2.72e-16	SMART
low complexity region	289	314	N/A	INTRINSIC

Meta Mutation Damage Score

0.5426

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. A similar protein in mouse is required for the development of the dorsal cochlear nuclei, and is thought to play a role in in the differentiation of neurons involved in sensory input. The mouse protein also functions in retinogenesis. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a null mutation are slow to gain weight, develop skin lesions, have reduced numbers of specific subtypes of amacrine and cone bipolar cells, and exhibit abnormal innervation of the corticospinal tract. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	C	18: 70,601,264 (GRCm39)	N206S	probably damaging	Het
Abcf2	A	T	5: 24,774,156 (GRCm39)	Y315*	probably null	Het
Adck1	T	G	12: 88,368,921 (GRCm39)	V133G	probably damaging	Het
Aoc2	T	C	11: 101,216,292 (GRCm39)	F125S	probably damaging	Het
As3mt	A	G	19: 46,713,410 (GRCm39)	D319G	probably benign	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
Baz1a	T	C	12: 55,001,585 (GRCm39)	Q145R	possibly damaging	Het
Cdo1	C	A	18: 46,861,104 (GRCm39)	V36L	probably benign	Het
Ces1h	A	G	8: 94,084,046 (GRCm39)	F388S	unknown	Het
Col6a5	T	A	9: 105,766,266 (GRCm39)	N1885Y	probably damaging	Het
Corin	A	T	5: 72,496,388 (GRCm39)	C522S	probably damaging	Het
Csmd1	G	T	8: 16,760,658 (GRCm39)	T159K	possibly damaging	Het
Cspg4b	T	A	13: 113,504,802 (GRCm39)	L1977H	probably benign	Het
Cwc27	T	A	13: 104,940,769 (GRCm39)	K197*	probably null	Het
Cyp20a1	T	C	1: 60,391,283 (GRCm39)	S26P	probably damaging	Het
Daxx	T	A	17: 34,130,949 (GRCm39)	D321E	probably damaging	Het
Gria2	A	C	3: 80,648,311 (GRCm39)	Y142D	possibly damaging	Het
Gspt1	T	C	16: 11,041,072 (GRCm39)		probably null	Het
Ighv1-80	A	T	12: 115,876,265 (GRCm39)	V17D	probably damaging	Het
Ints4	T	A	7: 97,178,425 (GRCm39)	L675*	probably null	Het
Kif13a	C	T	13: 46,980,233 (GRCm39)	R173Q	probably damaging	Het
Map3k2	T	C	18: 32,336,086 (GRCm39)	I91T	probably damaging	Het
Map3k8	A	G	18: 4,348,979 (GRCm39)		probably null	Het
Mcemp1	G	A	8: 3,717,284 (GRCm39)	W101*	probably null	Het
Naca	T	C	10: 127,879,993 (GRCm39)	I1675T	probably benign	Het
Nol9	T	C	4: 152,125,514 (GRCm39)	F155S	probably damaging	Het
Obscn	C	A	11: 58,960,721 (GRCm39)	D3406Y	probably damaging	Het
Obsl1	A	G	1: 75,466,273 (GRCm39)	V1485A	possibly damaging	Het
Oga	A	T	19: 45,760,119 (GRCm39)		probably null	Het
Or8a1	T	C	9: 37,641,725 (GRCm39)	K185E	possibly damaging	Het
Otog	C	A	7: 45,950,639 (GRCm39)	P337H	probably damaging	Het
Patl1	T	C	19: 11,898,242 (GRCm39)	L140P	probably damaging	Het
Pcca	G	A	14: 122,820,035 (GRCm39)	V60M	probably damaging	Het
Pex11g	G	T	8: 3,514,092 (GRCm39)	D23E	probably damaging	Het
Phactr2	A	T	10: 13,137,626 (GRCm39)	M172K	probably damaging	Het
Plce1	G	A	19: 38,512,974 (GRCm39)	W91*	probably null	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Podn	A	G	4: 107,884,357 (GRCm39)	F44S	probably damaging	Het
Polr3e	A	G	7: 120,527,205 (GRCm39)	D87G	possibly damaging	Het
Prmt2	T	A	10: 76,058,351 (GRCm39)	I153F	probably benign	Het
Prpf6	T	C	2: 181,273,229 (GRCm39)	V258A	probably benign	Het
Ptpn21	G	T	12: 98,655,521 (GRCm39)	A482E	probably damaging	Het
Qrich1	A	T	9: 108,411,491 (GRCm39)	N339Y	probably damaging	Het
Rabgap1	T	A	2: 37,432,659 (GRCm39)	V750D	possibly damaging	Het
Reg3d	G	A	6: 78,354,428 (GRCm39)	P58S	probably damaging	Het
Rp1	A	G	1: 4,112,212 (GRCm39)	L1213P	unknown	Het
Sema6b	A	G	17: 56,431,047 (GRCm39)	L872S	probably benign	Het
Serpinb7	T	C	1: 107,379,436 (GRCm39)	I281T	probably damaging	Het
Shank2	T	C	7: 143,838,821 (GRCm39)	V685A	possibly damaging	Het
Slc28a2	A	G	2: 122,284,980 (GRCm39)	I323V	possibly damaging	Het
Slc7a6	A	T	8: 106,919,099 (GRCm39)	I228F	probably damaging	Het
Slc9a9	A	G	9: 94,821,512 (GRCm39)	T300A	possibly damaging	Het
Spta1	A	G	1: 174,068,653 (GRCm39)	N2151S	probably damaging	Het
Sult2a1	T	A	7: 13,569,945 (GRCm39)	I96L	probably benign	Het
Tgm2	T	C	2: 157,966,070 (GRCm39)	D528G	probably benign	Het
Ubl7	T	C	9: 57,818,456 (GRCm39)		probably null	Het
Vcan	T	A	13: 89,839,716 (GRCm39)	I983L	probably benign	Het
Vmn1r172	T	C	7: 23,359,742 (GRCm39)	L209P	probably damaging	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Vmn1r3	T	C	4: 3,184,993 (GRCm39)	S105G	probably benign	Het
Zfp644	A	T	5: 106,783,711 (GRCm39)	H945Q	probably damaging	Het

Other mutations in Bhlhe22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01946:Bhlhe22	APN	3	18,109,960 (GRCm39)	missense	probably damaging	1.00
IGL02615:Bhlhe22	APN	3	18,109,064 (GRCm39)	missense	possibly damaging	0.75
butchered	UTSW	3	18,109,733 (GRCm39)	missense	probably damaging	1.00
R0047:Bhlhe22	UTSW	3	18,109,733 (GRCm39)	missense	probably damaging	1.00
R1462:Bhlhe22	UTSW	3	18,109,946 (GRCm39)	missense	probably damaging	1.00
R1462:Bhlhe22	UTSW	3	18,109,946 (GRCm39)	missense	probably damaging	1.00
R1832:Bhlhe22	UTSW	3	18,109,139 (GRCm39)	missense	probably damaging	0.99
R2025:Bhlhe22	UTSW	3	18,109,975 (GRCm39)	missense	probably benign	0.02
R2400:Bhlhe22	UTSW	3	18,109,615 (GRCm39)	missense	probably damaging	0.99
R3981:Bhlhe22	UTSW	3	18,109,058 (GRCm39)	missense	probably damaging	0.96
R4505:Bhlhe22	UTSW	3	18,109,123 (GRCm39)	missense	probably benign
R4507:Bhlhe22	UTSW	3	18,109,123 (GRCm39)	missense	probably benign
R6128:Bhlhe22	UTSW	3	18,109,987 (GRCm39)	missense	probably damaging	1.00
R7199:Bhlhe22	UTSW	3	18,110,006 (GRCm39)	missense	probably damaging	1.00
R9124:Bhlhe22	UTSW	3	18,109,342 (GRCm39)	missense	probably damaging	0.99
R9214:Bhlhe22	UTSW	3	18,109,024 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGCGCCTCAACATCAACG -3'
(R):5'- TAAGGCTTCTCCGTGCACTG -3'

Sequencing Primer
(F):5'- ACATCAACGCTCGCGAG -3'
(R):5'- TGAATAGGGCACACTTCTCG -3'

Posted On

2018-04-02