Mutagenetix > Incidental Mutation

Incidental Mutation 'R9736:Mab21l4'

731656

Institutional Source

Beutler Lab

Gene Symbol

Mab21l4

Ensembl Gene

ENSMUSG00000034159

Gene Name

mab-21-like 4

Synonyms

2310007B03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9736 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93079071-93088670 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93087661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 64 (V64A)

Ref Sequence

ENSEMBL: ENSMUSP00000035332 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043718] [ENSMUST00000143419]

AlphaFold

Q8CEZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000043718
AA Change: V64A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035332
Gene: ENSMUSG00000034159
AA Change: V64A

Domain	Start	End	E-Value	Type
Mab-21	71	372	2.18e-52	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000143419
AA Change: V64A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115971
Gene: ENSMUSG00000034159
AA Change: V64A

Domain	Start	End	E-Value	Type
Mab-21	71	372	2.18e-52	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	A	G	17: 43,022,212 (GRCm39)	I204T	probably benign	Het
Apc	T	A	18: 34,450,823 (GRCm39)	I2573N	probably damaging	Het
Ash1l	A	G	3: 88,891,733 (GRCm39)	D1204G	probably damaging	Het
Atp10a	T	A	7: 58,474,078 (GRCm39)	F1122I	probably damaging	Het
Cage1	A	C	13: 38,207,393 (GRCm39)	S151A	probably damaging	Het
Calhm2	G	A	19: 47,121,597 (GRCm39)	L191F	probably benign	Het
Cd109	C	T	9: 78,619,918 (GRCm39)	P1387S	probably damaging	Het
Cdhr2	T	C	13: 54,872,041 (GRCm39)	L635S	possibly damaging	Het
Cntfr	T	C	4: 41,658,290 (GRCm39)	T357A	unknown	Het
Cpox	A	G	16: 58,494,746 (GRCm39)	N261S	probably benign	Het
Crygb	A	T	1: 65,119,707 (GRCm39)	M91K	probably benign	Het
Ctnnd1	T	C	2: 84,442,430 (GRCm39)	K634R	probably benign	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Dmgdh	T	G	13: 93,843,158 (GRCm39)	F331L	possibly damaging	Het
Dpp10	T	A	1: 123,262,088 (GRCm39)	I765F	possibly damaging	Het
Fat2	T	A	11: 55,194,751 (GRCm39)	D1096V	probably damaging	Het
Fhod1	G	A	8: 106,059,597 (GRCm39)	T696I	probably damaging	Het
Gopc	A	T	10: 52,229,558 (GRCm39)	D220E	possibly damaging	Het
Grin3a	C	A	4: 49,672,472 (GRCm39)		probably null	Het
Gsdma	C	T	11: 98,567,169 (GRCm39)	P423L	probably damaging	Het
Gucy2d	G	A	7: 98,092,683 (GRCm39)	W20*	probably null	Het
Irs2	G	A	8: 11,058,217 (GRCm39)	R72W	probably damaging	Het
Lmo7	A	G	14: 102,157,929 (GRCm39)	I1421V	unknown	Het
Micu1	C	T	10: 59,699,123 (GRCm39)	Q467*	probably null	Het
Mycbp2	A	G	14: 103,434,852 (GRCm39)	V2197A	probably damaging	Het
Myh2	T	C	11: 67,063,999 (GRCm39)	S20P	probably benign	Het
Nwd2	A	G	5: 63,951,600 (GRCm39)	I210M	probably damaging	Het
Or4k45	A	T	2: 111,395,626 (GRCm39)	H54Q	probably benign	Het
Or5al5	T	A	2: 85,961,640 (GRCm39)	R122S	probably damaging	Het
Or5an1c	A	T	19: 12,218,920 (GRCm39)	I35N	probably damaging	Het
Pon3	A	G	6: 5,232,339 (GRCm39)	V227A	probably benign	Het
Psme4	T	A	11: 30,797,411 (GRCm39)	I1309K	probably damaging	Het
Ptprm	T	A	17: 66,997,562 (GRCm39)	Y1178F	probably damaging	Het
Qser1	A	G	2: 104,619,988 (GRCm39)	S185P	probably benign	Het
Wdr37	C	A	13: 8,911,136 (GRCm39)	M42I	probably benign	Het
Wwp1	T	A	4: 19,631,202 (GRCm39)	E610D	probably damaging	Het
Zbbx	A	G	3: 74,968,741 (GRCm39)	F572L	unknown	Het

Other mutations in Mab21l4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01954:Mab21l4	APN	1	93,079,794 (GRCm39)	missense	probably damaging	0.98
R0018:Mab21l4	UTSW	1	93,082,327 (GRCm39)	missense	probably benign	0.00
R0115:Mab21l4	UTSW	1	93,087,447 (GRCm39)	missense	possibly damaging	0.70
R0467:Mab21l4	UTSW	1	93,080,766 (GRCm39)	missense	probably damaging	1.00
R1452:Mab21l4	UTSW	1	93,080,661 (GRCm39)	missense	probably damaging	1.00
R1938:Mab21l4	UTSW	1	93,079,730 (GRCm39)	makesense	probably null
R3156:Mab21l4	UTSW	1	93,087,764 (GRCm39)	missense	possibly damaging	0.95
R4740:Mab21l4	UTSW	1	93,083,890 (GRCm39)	missense	probably benign	0.01
R5260:Mab21l4	UTSW	1	93,087,700 (GRCm39)	missense	probably damaging	0.99
R5283:Mab21l4	UTSW	1	93,087,575 (GRCm39)	missense	probably benign	0.02
R5645:Mab21l4	UTSW	1	93,080,668 (GRCm39)	missense	probably damaging	1.00
R6380:Mab21l4	UTSW	1	93,088,613 (GRCm39)	splice site	probably null
R6738:Mab21l4	UTSW	1	93,087,707 (GRCm39)	missense	probably benign	0.30
R7184:Mab21l4	UTSW	1	93,082,237 (GRCm39)	missense	probably benign	0.00
R7227:Mab21l4	UTSW	1	93,079,736 (GRCm39)	missense	probably benign	0.00
R7562:Mab21l4	UTSW	1	93,087,689 (GRCm39)	missense	probably damaging	1.00
R8001:Mab21l4	UTSW	1	93,082,321 (GRCm39)	missense	probably damaging	1.00
R8735:Mab21l4	UTSW	1	93,082,208 (GRCm39)	critical splice donor site	probably null
R8970:Mab21l4	UTSW	1	93,087,533 (GRCm39)	missense	probably benign	0.00
R9418:Mab21l4	UTSW	1	93,087,710 (GRCm39)	missense	probably benign	0.45
R9537:Mab21l4	UTSW	1	93,080,884 (GRCm39)	missense	possibly damaging	0.56
R9599:Mab21l4	UTSW	1	93,087,568 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TGTCAGCAGTCATCCATGGC -3'
(R):5'- CCAGTCTACACAAGCTCGAGAG -3'

Sequencing Primer
(F):5'- AGCAGTCATCCATGGCTCCAG -3'
(R):5'- ATGCCTGGCTCAGAGATGC -3'

Posted On

2022-11-14