Mutagenetix > Incidental Mutation

Incidental Mutation 'R5135:Hormad1'

396107

Institutional Source

Beutler Lab

Gene Symbol

Hormad1

Ensembl Gene

ENSMUSG00000028109

Gene Name

HORMA domain containing 1

Synonyms

4921522K05Rik, Nohma

MMRRC Submission

043261-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5135 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95466988-95494982 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 95492531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029754] [ENSMUST00000029754] [ENSMUST00000060323] [ENSMUST00000090797] [ENSMUST00000090797] [ENSMUST00000098861] [ENSMUST00000107154] [ENSMUST00000171191] [ENSMUST00000171191] [ENSMUST00000177390]

AlphaFold

Q9D5T7

Predicted Effect

probably benign
Transcript: ENSMUST00000029754

SMART Domains

Protein: ENSMUSP00000029754
Gene: ENSMUSG00000028109

Domain	Start	End	E-Value	Type
Pfam:HORMA	24	221	4.7e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000029754

SMART Domains

Protein: ENSMUSP00000029754
Gene: ENSMUSG00000028109

Domain	Start	End	E-Value	Type
Pfam:HORMA	24	221	4.7e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000060323

SMART Domains

Protein: ENSMUSP00000058654
Gene: ENSMUSG00000046519

Domain	Start	End	E-Value	Type
Pfam:GPP34	50	275	8.5e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090797

SMART Domains

Protein: ENSMUSP00000088303
Gene: ENSMUSG00000028109

Domain	Start	End	E-Value	Type
Pfam:HORMA	23	221	5.4e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090797

SMART Domains

Protein: ENSMUSP00000088303
Gene: ENSMUSG00000028109

Domain	Start	End	E-Value	Type
Pfam:HORMA	23	221	5.4e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098861

SMART Domains

Protein: ENSMUSP00000096460
Gene: ENSMUSG00000046519

Domain	Start	End	E-Value	Type
low complexity region	58	69	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
Pfam:GPP34	106	277	5.1e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107154

SMART Domains

Protein: ENSMUSP00000102772
Gene: ENSMUSG00000028109

Domain	Start	End	E-Value	Type
Pfam:HORMA	23	221	5.4e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171191

SMART Domains

Protein: ENSMUSP00000127180
Gene: ENSMUSG00000028109

Domain	Start	End	E-Value	Type
Pfam:HORMA	23	221	5.4e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171191

SMART Domains

Protein: ENSMUSP00000127180
Gene: ENSMUSG00000028109

Domain	Start	End	E-Value	Type
Pfam:HORMA	23	221	5.4e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198013

Predicted Effect

probably benign
Transcript: ENSMUST00000176755

SMART Domains

Protein: ENSMUSP00000134804
Gene: ENSMUSG00000046519

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
low complexity region	70	81	N/A	INTRINSIC
Pfam:GPP34	104	275	7.5e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177390

SMART Domains

Protein: ENSMUSP00000134799
Gene: ENSMUSG00000046519

Domain	Start	End	E-Value	Type
low complexity region	58	69	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
Pfam:GPP34	106	332	8.3e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177399

SMART Domains

Protein: ENSMUSP00000134998
Gene: ENSMUSG00000046519

Domain	Start	End	E-Value	Type
Pfam:GPP34	23	170	5.4e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177389

Predicted Effect

probably benign
Transcript: ENSMUST00000176674

SMART Domains

Protein: ENSMUSP00000134885
Gene: ENSMUSG00000046519

Domain	Start	End	E-Value	Type
low complexity region	58	69	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
Pfam:GPP34	104	288	2.4e-39	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (82/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a HORMA domain-containing protein. HORMA domains are involved in chromatin binding and play a role in cell cycle regulation. The encoded protein may play a role in meiosis, and expression of this gene is a potential marker for cancer. A pseudogene of this gene is located on the long arm of chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozgous mice are infertile because of meiosis arrest associated with impaired synaptonemal-complex formation. [provided by MGI curators]

Allele List at MGI

All alleles(9) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(7)

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	T	C	1: 183,765,703 (GRCm39)	S119G	probably benign	Het
4930553M12Rik	G	T	4: 88,786,508 (GRCm39)	H37N	unknown	Het
Adam10	T	A	9: 70,673,356 (GRCm39)	C496S	probably damaging	Het
Aldh18a1	A	C	19: 40,543,261 (GRCm39)		probably benign	Het
Alox5	A	G	6: 116,390,747 (GRCm39)	F468S	probably benign	Het
Ankrd50	T	C	3: 38,509,952 (GRCm39)	H805R	probably damaging	Het
Ap2s1	T	A	7: 16,481,248 (GRCm39)	D72E	probably damaging	Het
Apaf1	T	C	10: 90,895,956 (GRCm39)	Y372C	probably damaging	Het
Apob	C	T	12: 8,060,086 (GRCm39)	T2823I	probably damaging	Het
Bhmt	A	G	13: 93,763,831 (GRCm39)	V70A	probably damaging	Het
Bltp3b	T	C	10: 89,625,217 (GRCm39)	I48T	probably damaging	Het
Cdc42bpg	T	A	19: 6,370,648 (GRCm39)	L1247H	probably damaging	Het
Cel	A	G	2: 28,449,435 (GRCm39)	V264A	probably benign	Het
Celsr2	T	C	3: 108,305,975 (GRCm39)	N2043S	probably damaging	Het
Clca4a	A	T	3: 144,660,707 (GRCm39)	W706R	probably damaging	Het
Col22a1	G	T	15: 71,671,186 (GRCm39)	P1058Q	unknown	Het
Cyp4a14	A	G	4: 115,347,157 (GRCm39)		probably null	Het
Dhx30	T	G	9: 109,927,863 (GRCm39)	R55S	probably damaging	Het
Dlgap5	C	T	14: 47,637,122 (GRCm39)	R452H	probably damaging	Het
Dnah12	T	A	14: 26,492,434 (GRCm39)	D1191E	probably damaging	Het
Dock3	A	T	9: 106,810,196 (GRCm39)	I164N	probably damaging	Het
Edrf1	T	A	7: 133,252,773 (GRCm39)	M436K	probably benign	Het
Eif2ak2	T	A	17: 79,173,774 (GRCm39)	Y268F	probably damaging	Het
Evi2a	G	A	11: 79,418,277 (GRCm39)	T111M	possibly damaging	Het
Fzd4	A	G	7: 89,056,709 (GRCm39)	E252G	probably damaging	Het
Gcm2	A	G	13: 41,256,435 (GRCm39)	V438A	probably benign	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm4846	T	C	1: 166,311,551 (GRCm39)	D436G	probably damaging	Het
Gm5414	T	A	15: 101,536,203 (GRCm39)	I141F	probably damaging	Het
Gm6185	T	A	1: 161,025,801 (GRCm39)		noncoding transcript	Het
Grip2	T	C	6: 91,750,897 (GRCm39)	E776G	possibly damaging	Het
H2-Ob	T	A	17: 34,462,490 (GRCm39)	V160E	probably benign	Het
Ighv2-1	A	T	12: 113,538,082 (GRCm39)		probably benign	Het
Igkv4-92	A	T	6: 68,732,538 (GRCm39)	C14S	probably benign	Het
Iqsec3	T	C	6: 121,360,878 (GRCm39)	I993M	probably damaging	Het
Kdm5b	T	A	1: 134,516,484 (GRCm39)		probably benign	Het
Kitl	T	C	10: 99,924,084 (GRCm39)		probably null	Het
Klhl26	G	T	8: 70,905,368 (GRCm39)	R100S	probably benign	Het
Kpna4	C	T	3: 69,000,142 (GRCm39)		probably null	Het
Lama5	T	A	2: 179,844,013 (GRCm39)	N383Y	possibly damaging	Het
Large1	T	G	8: 73,544,724 (GRCm39)	I685L	probably benign	Het
Larp4b	A	G	13: 9,220,773 (GRCm39)	E590G	probably damaging	Het
Liph	A	T	16: 21,774,915 (GRCm39)	C425*	probably null	Het
Lrrc31	A	T	3: 30,739,039 (GRCm39)	C327*	probably null	Het
Lrrc36	T	C	8: 106,190,530 (GRCm39)	V733A	probably benign	Het
Mmel1	T	A	4: 154,966,781 (GRCm39)	I83K	probably benign	Het
Myo16	G	T	8: 10,526,114 (GRCm39)	V885L	probably benign	Het
Naip2	A	T	13: 100,315,948 (GRCm39)	N277K	probably damaging	Het
Ncapg2	T	A	12: 116,391,406 (GRCm39)	I485N	possibly damaging	Het
Npc1l1	A	T	11: 6,174,245 (GRCm39)	Y687N	possibly damaging	Het
Obscn	A	T	11: 59,020,479 (GRCm39)	V922E	probably damaging	Het
Oc90	A	G	15: 65,755,679 (GRCm39)	S223P	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4a80	A	T	2: 89,582,239 (GRCm39)	L311H	possibly damaging	Het
Or4e1	T	C	14: 52,701,311 (GRCm39)	I52V	probably benign	Het
Pakap	G	T	4: 57,855,912 (GRCm39)	A414S	probably benign	Het
Pdlim5	C	T	3: 142,010,126 (GRCm39)	R174H	probably benign	Het
Pex5l	G	T	3: 33,009,980 (GRCm39)	A386E	probably damaging	Het
Plcxd1	T	A	5: 110,249,229 (GRCm39)		probably benign	Het
Pramel12	T	G	4: 143,145,579 (GRCm39)	S349R	probably benign	Het
Prl8a1	A	T	13: 27,763,802 (GRCm39)		probably null	Het
Ryr2	G	T	13: 11,677,016 (GRCm39)	N3278K	probably benign	Het
Sacm1l	A	G	9: 123,406,090 (GRCm39)	M324V	probably benign	Het
Sdad1	T	C	5: 92,451,793 (GRCm39)	T143A	probably benign	Het
Sec11a	A	T	7: 80,572,812 (GRCm39)		probably benign	Het
Sema6a	A	G	18: 47,424,239 (GRCm39)	V223A	probably damaging	Het
Serpinb6c	A	G	13: 34,064,080 (GRCm39)	V325A	probably damaging	Het
Slc4a2	G	A	5: 24,635,125 (GRCm39)	A177T	possibly damaging	Het
Slc5a4a	A	G	10: 75,983,428 (GRCm39)	N22D	unknown	Het
Stard13	C	T	5: 150,986,232 (GRCm39)	W308*	probably null	Het
Tanc2	C	T	11: 105,748,379 (GRCm39)	L504F	possibly damaging	Het
Tfap2e	G	T	4: 126,614,337 (GRCm39)	N282K	probably damaging	Het
Usp36	G	T	11: 118,155,731 (GRCm39)	T682K	possibly damaging	Het
Zc3h11a	T	C	1: 133,561,527 (GRCm39)	T315A	probably benign	Het
Zfa-ps	T	A	10: 52,419,118 (GRCm39)		noncoding transcript	Het
Zfp1002	A	T	2: 150,097,410 (GRCm39)	Y34*	probably null	Het
Zfp663	A	T	2: 165,195,590 (GRCm39)	C210S	possibly damaging	Het
Zfp747	T	C	7: 126,973,566 (GRCm39)	I201M	probably damaging	Het
Zic4	C	T	9: 91,266,205 (GRCm39)	T276M	probably damaging	Het

Other mutations in Hormad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01653:Hormad1	APN	3	95,485,608 (GRCm39)	missense	possibly damaging	0.49
IGL01686:Hormad1	APN	3	95,485,580 (GRCm39)	missense	probably benign	0.02
IGL02023:Hormad1	APN	3	95,485,604 (GRCm39)	missense	possibly damaging	0.91
B6584:Hormad1	UTSW	3	95,478,007 (GRCm39)	splice site	probably benign
R0025:Hormad1	UTSW	3	95,492,436 (GRCm39)	unclassified	probably benign
R0662:Hormad1	UTSW	3	95,482,910 (GRCm39)	missense	probably benign	0.01
R0704:Hormad1	UTSW	3	95,473,997 (GRCm39)	critical splice donor site	probably null
R1854:Hormad1	UTSW	3	95,487,317 (GRCm39)	missense	probably benign	0.08
R2199:Hormad1	UTSW	3	95,475,033 (GRCm39)	critical splice donor site	probably null
R2371:Hormad1	UTSW	3	95,482,910 (GRCm39)	missense	probably benign	0.18
R2411:Hormad1	UTSW	3	95,487,326 (GRCm39)	missense	probably benign	0.41
R3522:Hormad1	UTSW	3	95,483,596 (GRCm39)	missense	probably benign	0.01
R4075:Hormad1	UTSW	3	95,485,514 (GRCm39)	missense	possibly damaging	0.47
R4202:Hormad1	UTSW	3	95,492,509 (GRCm39)	missense	probably benign	0.00
R4535:Hormad1	UTSW	3	95,492,452 (GRCm39)	missense	probably benign	0.00
R4536:Hormad1	UTSW	3	95,492,452 (GRCm39)	missense	probably benign	0.00
R4844:Hormad1	UTSW	3	95,478,242 (GRCm39)	missense	probably damaging	0.98
R4903:Hormad1	UTSW	3	95,492,531 (GRCm39)	splice site	probably null
R4964:Hormad1	UTSW	3	95,492,531 (GRCm39)	splice site	probably null
R5208:Hormad1	UTSW	3	95,485,418 (GRCm39)	missense	possibly damaging	0.46
R5372:Hormad1	UTSW	3	95,483,735 (GRCm39)	missense	probably damaging	1.00
R5825:Hormad1	UTSW	3	95,469,870 (GRCm39)	missense	probably damaging	0.97
R5895:Hormad1	UTSW	3	95,467,044 (GRCm39)	critical splice donor site	probably null
R6124:Hormad1	UTSW	3	95,483,613 (GRCm39)	missense	probably benign
R6453:Hormad1	UTSW	3	95,485,568 (GRCm39)	missense	probably benign	0.02
R7308:Hormad1	UTSW	3	95,469,866 (GRCm39)	missense	probably damaging	0.99
R7373:Hormad1	UTSW	3	95,483,628 (GRCm39)	missense	probably damaging	1.00
R8744:Hormad1	UTSW	3	95,469,926 (GRCm39)	missense	possibly damaging	0.79
R9040:Hormad1	UTSW	3	95,487,470 (GRCm39)	missense	possibly damaging	0.68
R9360:Hormad1	UTSW	3	95,483,622 (GRCm39)	missense	probably benign	0.03
R9790:Hormad1	UTSW	3	95,494,693 (GRCm39)	missense	probably benign	0.13
R9791:Hormad1	UTSW	3	95,494,693 (GRCm39)	missense	probably benign	0.13
X0025:Hormad1	UTSW	3	95,488,878 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCATCTGAGTTATGTGTCAGTGTAAC -3'
(R):5'- ACTCAGGTGCATTTATCTGTGC -3'

Sequencing Primer
(F):5'- TCAACTGTTGCCTGTTTG -3'
(R):5'- TGCATTTATCTGTGCAGAAACAC -3'

Posted On

2016-06-21