Mutagenetix > Incidental Mutation

Incidental Mutation 'R8832:Fam126b'

673878

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 #

R8832 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58522806-58586323 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58548673 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 127 (I127N)

Ref Sequence

ENSEMBL: ENSMUSP00000095331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038372] [ENSMUST00000097724] [ENSMUST00000161000] [ENSMUST00000161600] [ENSMUST00000187717]

AlphaFold

Q8C729

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038372
AA Change: I127N

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038718
Gene: ENSMUSG00000038174
AA Change: I127N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097724
AA Change: I127N

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095331
Gene: ENSMUSG00000038174
AA Change: I127N

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: ENSMUST00000161000

SMART Domains

Protein: ENSMUSP00000125653
Gene: ENSMUSG00000038174

Domain	Start	End	E-Value	Type
Pfam:Hyccin	20	99	3e-33	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161600
AA Change: I127N

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123728
Gene: ENSMUSG00000038174
AA Change: I127N

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: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

99% (81/82)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700125H20Rik	A	G	11: 85,171,211	D12G	probably damaging	Het
2610507B11Rik	A	G	11: 78,267,238	K409E	probably benign	Het
9330159F19Rik	A	T	10: 29,224,345	E238V	probably damaging	Het
Adh6b	T	C	3: 138,349,702	V71A	probably benign	Het
Agmat	G	A	4: 141,747,009	R67H	probably benign	Het
AI182371	T	C	2: 35,095,897	D49G	unknown	Het
Ak7	A	G	12: 105,742,339	N351S	possibly damaging	Het
Aldh3b1	G	T	19: 3,914,025	R426S	probably damaging	Het
Aldh4a1	A	G	4: 139,644,155	D460G	probably benign	Het
Aox4	A	T	1: 58,255,490	M953L	probably benign	Het
Arhgap32	C	T	9: 32,260,819	P1632S	possibly damaging	Het
Armh1	A	G	4: 117,237,670	F58L	probably damaging	Het
Baz1b	C	T	5: 135,217,376	R560W	possibly damaging	Het
Bbs10	C	T	10: 111,300,405	Q460*	probably null	Het
BC034090	A	C	1: 155,226,288	S77A	probably damaging	Het
Brca2	A	G	5: 150,542,146	K1792E	possibly damaging	Het
Cadps2	A	T	6: 23,587,537	L318Q	possibly damaging	Het
Catsperg2	A	G	7: 29,697,844	V1078A	probably benign	Het
Ccno	A	G	13: 112,989,705	N236S	probably benign	Het
Cobll1	A	T	2: 65,099,258	S575T	probably damaging	Het
Col6a4	A	G	9: 106,072,154	Y761H	probably benign	Het
Cyp2j9	G	T	4: 96,585,884	H106Q	probably benign	Het
D5Ertd577e	G	T	5: 95,483,080	C272F	possibly damaging	Het
Dennd2c	T	A	3: 103,152,404		probably null	Het
Drd5	G	A	5: 38,319,735	V24M	probably benign	Het
Dthd1	T	C	5: 62,814,265	S144P	probably benign	Het
Fcna	C	A	2: 25,626,133	R124L	possibly damaging	Het
Fmnl2	A	G	2: 53,054,572	S188G		Het
Ggt1	A	T	10: 75,574,339	H35L	possibly damaging	Het
Gphn	A	T	12: 78,412,400		silent	Het
Hic1	G	A	11: 75,166,902	A387V	possibly damaging	Het
Igf1r	T	A	7: 68,226,021	F1244I	probably damaging	Het
Kcnk7	T	C	19: 5,704,708	V78A	probably damaging	Het
Kit	A	G	5: 75,639,131	N508D	probably benign	Het
Klk1b22	A	T	7: 44,114,853	E68D	probably benign	Het
Klra4	C	T	6: 130,044,056	D259N	probably benign	Het
Krtap2-4	A	T	11: 99,614,420	C122S	unknown	Het
Map3k1	T	G	13: 111,752,481	H1314P	possibly damaging	Het
Mast2	C	T	4: 116,311,678		probably null	Het
Mfsd2a	A	G	4: 122,949,309	V393A	probably benign	Het
Myh7b	T	A	2: 155,633,262	V1858E	probably benign	Het
Myo1c	G	A	11: 75,670,246	V793I	probably benign	Het
Myt1l	T	A	12: 29,920,352	N1145K	unknown	Het
Nckap1l	T	A	15: 103,478,815	S706T	probably benign	Het
Nos2	A	G	11: 78,955,464		probably null	Het
Odf2l	C	T	3: 145,128,059	S160L	probably benign	Het
Olfr1116	T	A	2: 87,269,399	M206K	probably benign	Het
Olfr1179	A	G	2: 88,402,793	I47T	probably damaging	Het
Olfr332	T	C	11: 58,490,237	I173V	possibly damaging	Het
Olfr688	T	C	7: 105,288,228	L45P	possibly damaging	Het
Olfr968	T	C	9: 39,772,590	D70G	probably damaging	Het
Pclo	T	C	5: 14,788,450	W1424R		Het
Pde8a	A	G	7: 81,306,750	N299S	probably benign	Het
Pi4kb	C	T	3: 94,993,033	T326M	probably damaging	Het
Pip4k2c	A	T	10: 127,201,168	H177Q	probably damaging	Het
Pld1	T	A	3: 28,123,697	W686R		Het
Ppp1r3b	A	T	8: 35,384,265	D86V	probably damaging	Het
Ppp1r3g	C	T	13: 35,969,160	R188*	probably null	Het
Ptbp1	A	G	10: 79,863,189	E527G	probably damaging	Het
Rasef	T	C	4: 73,780,321		probably benign	Het
Rce1	A	T	19: 4,625,504	C34S	unknown	Het
Rnf144a	T	C	12: 26,320,949		probably benign	Het
Rpl7	C	T	1: 16,103,261	R88H	possibly damaging	Het
Rubcnl	A	T	14: 75,031,919	T6S		Het
Samd9l	A	T	6: 3,374,990	V757D	probably damaging	Het
Sec22c	A	G	9: 121,685,572	V221A	probably benign	Het
Slc16a6	A	G	11: 109,455,106	Y444H	probably benign	Het
Slc6a15	A	T	10: 103,389,318	Y89F	probably damaging	Het
Smg1	A	G	7: 118,139,783	V3466A	probably benign	Het
Sobp	G	A	10: 43,160,828	T38I	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Srsf5	T	A	12: 80,949,504	F151I	probably damaging	Het
Taf2	A	C	15: 55,064,605	L134R	possibly damaging	Het
Tbc1d1	A	G	5: 64,284,677		probably benign	Het
Thap1	C	T	8: 26,158,233		probably benign	Het
Tmc5	A	T	7: 118,623,109	M11L	probably benign	Het
Tnfaip8	ACACACTCTCTCTCTC	AC	18: 50,046,841		probably benign	Het
Tomm7	T	C	5: 23,844,049	K9E	possibly damaging	Het
Trem3	T	C	17: 48,249,837	V112A	probably benign	Het
Vmn1r178	G	A	7: 23,893,839	C104Y	probably damaging	Het
Zdhhc20	A	T	14: 57,843,264	S263T	possibly damaging	Het
Zdhhc20	A	G	14: 57,865,632	S87P	probably benign	Het
Zfp423	C	A	8: 87,781,199	C839F	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
R7100:Fam126b	UTSW	1	58534494	missense	possibly damaging	0.94
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
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'- AGAAGACAATGTATTAGGGCCC -3'
(R):5'- CTGACAGATTTGGAAGACTATGC -3'

Sequencing Primer
(F):5'- CCTTTCACTTGGAAGCAGAGTCAG -3'
(R):5'- ACAGATTTGGAAGACTATGCTAGAG -3'

Posted On

2021-07-15