Mutagenetix > Incidental Mutation

Incidental Mutation 'R9418:Mab21l4'

712145

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 #

R9418 (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 C at 93087710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 48 (L48V)

Ref Sequence

ENSEMBL: ENSMUSP00000035332 (fasta)

Gene Model

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

AlphaFold

Q8CEZ4

Predicted Effect

probably benign
Transcript: ENSMUST00000043718
AA Change: L48V

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000035332
Gene: ENSMUSG00000034159
AA Change: L48V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143419
AA Change: L48V

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115971
Gene: ENSMUSG00000034159
AA Change: L48V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	A	5: 138,645,317 (GRCm39)	G401R	probably damaging	Het
Adgrf5	G	A	17: 43,737,864 (GRCm39)	V233I	probably benign	Het
Ankrd34b	A	G	13: 92,575,232 (GRCm39)	K155E	probably damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Ccdc141	A	T	2: 76,871,766 (GRCm39)	H839Q	probably benign	Het
Ccdc18	T	C	5: 108,303,669 (GRCm39)	L251P	probably damaging	Het
Ciita	G	T	16: 10,319,765 (GRCm39)	E63*	probably null	Het
Cmya5	T	C	13: 93,226,209 (GRCm39)	T2960A	probably benign	Het
Cyp2b13	A	T	7: 25,761,110 (GRCm39)	I56F	probably benign	Het
Dcaf4	A	T	12: 83,586,606 (GRCm39)	Y422F	probably benign	Het
Dhrs7b	A	T	11: 60,746,594 (GRCm39)	I228F	probably damaging	Het
Drosha	T	C	15: 12,885,167 (GRCm39)	S853P	probably benign	Het
Dzank1	C	T	2: 144,355,408 (GRCm39)	V96M	probably damaging	Het
Fap	G	A	2: 62,385,181 (GRCm39)	Q65*	probably null	Het
Fbxo47	T	A	11: 97,747,067 (GRCm39)	N333I	possibly damaging	Het
Fem1al	C	T	11: 29,774,632 (GRCm39)	C275Y	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gpr171	T	C	3: 59,004,999 (GRCm39)	T259A	possibly damaging	Het
Hectd2	T	A	19: 36,589,574 (GRCm39)	S595T	probably benign	Het
Hexa	A	G	9: 59,464,592 (GRCm39)	I161V	probably benign	Het
Hira	A	G	16: 18,770,025 (GRCm39)	T777A	probably benign	Het
Il2ra	T	C	2: 11,689,203 (GRCm39)	F244S	possibly damaging	Het
Kcne3	A	G	7: 99,833,385 (GRCm39)	M1V	probably null	Het
Kcnj1	G	A	9: 32,308,203 (GRCm39)	C209Y	probably damaging	Het
Kcnj2	A	T	11: 110,963,357 (GRCm39)	I250F	probably damaging	Het
Krt26	C	T	11: 99,228,741 (GRCm39)		probably benign	Het
Leng9	T	C	7: 4,151,354 (GRCm39)	T441A	probably benign	Het
Lingo2	T	C	4: 35,709,035 (GRCm39)	H315R	probably benign	Het
Lrrc7	A	T	3: 157,908,023 (GRCm39)	S266T	possibly damaging	Het
Mib1	A	G	18: 10,812,064 (GRCm39)	D987G	probably damaging	Het
Mrc1	T	C	2: 14,234,358 (GRCm39)	V12A	probably benign	Het
Mta1	G	T	12: 113,094,987 (GRCm39)	R415L	probably damaging	Het
Mug2	T	A	6: 122,017,700 (GRCm39)	V479E	probably benign	Het
Mylk3	C	A	8: 86,091,444 (GRCm39)	M120I	possibly damaging	Het
Or13c7c	C	T	4: 43,835,879 (GRCm39)	V204M	probably benign	Het
Or2v2	G	T	11: 49,004,484 (GRCm39)	P23Q	probably benign	Het
Otog	A	T	7: 45,938,024 (GRCm39)	Q1911L	probably benign	Het
Pcdh20	C	T	14: 88,705,455 (GRCm39)	C615Y	probably benign	Het
Pde1b	A	G	15: 103,433,464 (GRCm39)	H294R	probably damaging	Het
Phldb3	A	T	7: 24,328,354 (GRCm39)	I633F	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pip5k1b	A	G	19: 24,327,581 (GRCm39)	V425A	probably benign	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Rab23	A	T	1: 33,777,424 (GRCm39)	E179D	probably benign	Het
Slc12a6	C	A	2: 112,174,555 (GRCm39)	L522I		Het
Slc22a19	A	T	19: 7,660,210 (GRCm39)	M400K	possibly damaging	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Spsb2	C	A	6: 124,786,282 (GRCm39)	A5D	probably damaging	Het
Tgfb1	A	G	7: 25,391,952 (GRCm39)	E169G	probably damaging	Het
Tm4sf5	T	A	11: 70,401,134 (GRCm39)	C117S	probably damaging	Het
Tmcc3	T	C	10: 94,415,087 (GRCm39)	L294P	possibly damaging	Het
Ubc	T	C	5: 125,464,466 (GRCm39)	Y287C	probably damaging	Het
Uroc1	G	T	6: 90,313,880 (GRCm39)	V56F	probably benign	Het
Ush1c	A	T	7: 45,872,292 (GRCm39)	F237I	probably damaging	Het
Xxylt1	A	T	16: 30,826,624 (GRCm39)	Y230*	probably null	Het
Zfp467	A	T	6: 48,415,990 (GRCm39)	C221S	probably damaging	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
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
R9736:Mab21l4	UTSW	1	93,087,661 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCAGCAGTCATCCATGGCTC -3'
(R):5'- CAGTCTACACAAGCTCGAGAG -3'

Sequencing Primer
(F):5'- ACAGATTGCAGGGCCATC -3'
(R):5'- AGAGCGGTCCCCAAGAG -3'

Posted On

2022-05-16