Mutagenetix > Incidental Mutation

Incidental Mutation 'R7100:Fam126b'

550741

Institutional Source

Beutler Lab

Gene Symbol

Fam126b

Ensembl Gene

ENSMUSG00000038174

Gene Name

family with sequence similarity 126, member B

Synonyms

D1Ertd53e

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R7100 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58522806-58586323 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58534494 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 384 (T384S)

Ref Sequence

ENSEMBL: ENSMUSP00000095331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038372] [ENSMUST00000097724] [ENSMUST00000161600] [ENSMUST00000187717]

AlphaFold

Q8C729

Predicted Effect

probably benign
Transcript: ENSMUST00000038372

SMART Domains

Protein: ENSMUSP00000038718
Gene: ENSMUSG00000038174

Domain	Start	End	E-Value	Type
Pfam:Hyccin	20	330	1.7e-137	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097724
AA Change: T384S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095331
Gene: ENSMUSG00000038174
AA Change: T384S

Domain	Start	End	E-Value	Type
Pfam:Hyccin	22	330	3.3e-126	PFAM
low complexity region	374	399	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161600

SMART Domains

Protein: ENSMUSP00000123728
Gene: ENSMUSG00000038174

Domain	Start	End	E-Value	Type
Pfam:Hyccin	20	330	1.7e-137	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187717

Coding Region Coverage

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

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	A	G	2: 154,552,395	E89G	probably damaging	Het
Adgrv1	A	T	13: 81,270,897	V5993E	probably damaging	Het
Amdhd1	T	C	10: 93,537,074		probably null	Het
Amph	T	C	13: 19,149,841	*691Q	probably null	Het
Ankrd55	A	G	13: 112,356,110	K272E	probably benign	Het
Arhgef10l	C	T	4: 140,516,815	V838I	possibly damaging	Het
Arl2	C	A	19: 6,134,744	V160F	probably benign	Het
BC067074	T	A	13: 113,318,967	F516I		Het
Catsperb	T	C	12: 101,446,038	V128A	possibly damaging	Het
Cdk11b	T	A	4: 155,625,593	L17H	probably damaging	Het
Cpsf1	A	T	15: 76,596,114	N1391K	possibly damaging	Het
Cpxm2	C	T	7: 132,054,815	A573T	probably benign	Het
Daxx	T	C	17: 33,911,442	S144P	probably damaging	Het
Dpp3	T	C	19: 4,918,041	D303G	probably damaging	Het
Fam181a	T	A	12: 103,315,873	N12K	probably damaging	Het
Flg2	A	T	3: 93,203,711	R1015S	unknown	Het
Fstl5	A	G	3: 76,536,293	H315R	probably benign	Het
Fut4	A	G	9: 14,751,393	S202P	probably damaging	Het
Gm5114	T	C	7: 39,408,284	D637G	possibly damaging	Het
Gstcd	G	T	3: 133,084,943	T21K	probably benign	Het
Heca	C	T	10: 17,915,373	V312M	probably benign	Het
Herpud1	A	G	8: 94,390,847	R144G	probably damaging	Het
Hrasls5	T	A	19: 7,639,558	F313I	unknown	Het
Ino80	A	G	2: 119,374,513	S1511P	possibly damaging	Het
Irf2bp2	T	C	8: 126,591,733	T365A	probably benign	Het
Klk1	G	A	7: 44,229,424	G214E	probably damaging	Het
Lama3	A	T	18: 12,582,644	N1719I	possibly damaging	Het
Lmna	A	G	3: 88,484,990	I365T	probably damaging	Het
Lrp8	C	A	4: 107,802,450	A13E	possibly damaging	Het
Ly75	A	G	2: 60,306,434	L1483P	probably benign	Het
Mid1	A	G	X: 169,985,077	D407G	probably benign	Het
Mpl	G	T	4: 118,457,410	A21E		Het
Mus81	C	T	19: 5,484,211	G360S	probably damaging	Het
Nmt2	T	A	2: 3,312,913	S250T	probably benign	Het
Nr1d1	C	A	11: 98,771,334	R158L	probably damaging	Het
Pcgf6	G	A	19: 47,050,714	P36S	unknown	Het
Pcnx2	G	A	8: 125,759,114	A1915V	probably benign	Het
Peak1	A	G	9: 56,259,393	V417A	probably damaging	Het
Phf20l1	A	G	15: 66,604,840	N262S	probably benign	Het
Ppp2r5d	A	G	17: 46,685,682	V355A	probably benign	Het
Rasa3	T	C	8: 13,586,897	T395A	probably benign	Het
Rims1	T	A	1: 22,346,473	I432F	probably benign	Het
Rnf123	C	T	9: 108,056,639	C1080Y	probably damaging	Het
Serpina3g	T	C	12: 104,238,311		probably benign	Het
Shank2	T	A	7: 144,411,164	D836E	possibly damaging	Het
Slc24a5	A	C	2: 125,080,671	S118R	probably damaging	Het
Smg1	G	T	7: 118,184,520	H1048N	unknown	Het
Specc1l	T	G	10: 75,245,495	S242A	probably benign	Het
Tagap1	A	T	17: 6,956,712	L195Q	possibly damaging	Het
Tmem57	T	C	4: 134,806,660	D550G	probably damaging	Het
Trpc3	C	A	3: 36,650,067	E580D	probably benign	Het
Ttn	A	T	2: 76,710,822	V33940E	probably benign	Het
Upp2	G	T	2: 58,791,805	R318L	probably benign	Het
Vezt	T	A	10: 93,996,933	E205D	probably benign	Het
Vmn1r177	A	G	7: 23,866,110	F114L	probably benign	Het
Vmn2r53	C	A	7: 12,581,586	E769*	probably null	Het
Vnn3	T	C	10: 23,865,942	Y382H	probably damaging	Het

Other mutations in Fam126b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Fam126b	APN	1	58540253	splice site	probably benign
IGL00468:Fam126b	APN	1	58530232	missense	probably benign	0.25
IGL00701:Fam126b	APN	1	58535482	missense	possibly damaging	0.59
IGL00795:Fam126b	APN	1	58552179	missense	probably damaging	1.00
IGL02023:Fam126b	APN	1	58530115	missense	possibly damaging	0.53
IGL02501:Fam126b	APN	1	58540191	missense	probably damaging	1.00
IGL02657:Fam126b	APN	1	58535402	missense	probably damaging	1.00
IGL02970:Fam126b	APN	1	58539617	missense	probably damaging	1.00
IGL03221:Fam126b	APN	1	58540186	missense	probably benign	0.00
IGL03240:Fam126b	APN	1	58529917	missense	probably damaging	1.00
PIT4812001:Fam126b	UTSW	1	58548703	missense	possibly damaging	0.78
R0455:Fam126b	UTSW	1	58534479	splice site	probably benign
R1479:Fam126b	UTSW	1	58552268	nonsense	probably null
R1529:Fam126b	UTSW	1	58539607	missense	probably benign	0.00
R4275:Fam126b	UTSW	1	58529933	missense	probably benign
R5164:Fam126b	UTSW	1	58535438	missense	probably benign	0.13
R6332:Fam126b	UTSW	1	58529875	missense	probably damaging	0.99
R6352:Fam126b	UTSW	1	58557312	missense	probably damaging	1.00
R6549:Fam126b	UTSW	1	58539600	missense	probably benign	0.03
R7034:Fam126b	UTSW	1	58535537	missense	probably benign	0.17
R7036:Fam126b	UTSW	1	58535537	missense	probably benign	0.17
R7237:Fam126b	UTSW	1	58529948	nonsense	probably null
R7378:Fam126b	UTSW	1	58530034	missense	probably benign	0.00
R7403:Fam126b	UTSW	1	58548702	missense	possibly damaging	0.59
R8015:Fam126b	UTSW	1	58535482	missense	possibly damaging	0.59
R8249:Fam126b	UTSW	1	58534637	missense	probably benign	0.10
R8544:Fam126b	UTSW	1	58529822	missense	probably benign	0.09
R8726:Fam126b	UTSW	1	58546126	missense	possibly damaging	0.82
R8829:Fam126b	UTSW	1	58548673	missense	possibly damaging	0.86
R8832:Fam126b	UTSW	1	58548673	missense	possibly damaging	0.86
R8847:Fam126b	UTSW	1	58556554	missense	probably damaging	1.00
R9046:Fam126b	UTSW	1	58529786	missense	probably damaging	0.99
R9177:Fam126b	UTSW	1	58552202	missense	probably damaging	1.00
R9268:Fam126b	UTSW	1	58552202	missense	probably damaging	1.00
R9472:Fam126b	UTSW	1	58535482	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- ATGACACAGGGATGCAGACTC -3'
(R):5'- TGAATCCCAGATGGCTTTGAC -3'

Sequencing Primer
(F):5'- ACCTAACCTGGTGCTAGGCATATG -3'
(R):5'- TGACTTCTCAAACGAGGCTG -3'

Posted On

2019-05-15